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Link to this search: https://omia.org/results/?gb_species_id=93934&result_type=variant&search_type=advanced
13 variant records found |
[show instead phene records] |
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1075 | OMIA:001602-93934 | Japanese quail | Feather colour, fawn-2/beige | ASIP | Y^f2 | duplication | Naturally occurring variant | Not currently ISAG evaluated | 20 | Robic et al. (2019) concluded "that fawn-2 and beige are the same allele, and that it is caused by a 70,895-bp tandem duplication . . . [with breakpoints] (NC-029535 [1,371,395(or 98)–1,442,295 (or 98)]) . . . located downstream of the ITCH exon 1 and upstream of the ASIP exon e4 (5′ UTR). . . . The 70,895 bp of the duplicated region include the entire AHCY gene on one strand, and parts of the ASIP and ITCH genes on the other strand." | 2019 | 30987584 | ||||||||
| 504 | OMIA:001602-93934 | Japanese quail | Feather colour, recessive black | ASIP | rb | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | 20 | c.373_380del | "A deletion of 8 bases was found in the ASIP gene" | 2008 | 18287406 | |||||||
| 654 | OMIA:001602-93934 | Japanese quail | Feather colour, lethal yellow | ASIP | Y | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | 20 | g.1463709_1604872del | Nadeau et al. (2008): "a >90-kb [141162bp] deletion upstream of ASIP" | 2008 | 18287407 | The g. coordinates were provided by Robic et al. (2019) | ||||||
| 257 | OMIA:000375-93934 | Japanese quail | Feather colour, panda/dotted white | EDNRB2 | missense | Naturally occurring variant | Not currently ISAG evaluated | c.995G>A | p.(R332H) | 2007 | 17313575 | |||||||||
| 256 | OMIA:001435-93934 | Japanese quail | Feather colour, extended brown | MC1R | missense | Naturally occurring variant | Not currently ISAG evaluated | c.?G>A | p.(E92K) | 2006 | 16734695 | |||||||||
| 503 | OMIA:000915-93934 | Japanese quail | Feather colour, silver | MITF | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | "a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region" = 2 bp deletion in exon 11 | 1998 | 9576828 | ||||||||||
| 505 | OMIA:000755-93934 | Japanese quail | Osteopetrosis | MITF | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | same MITF variant as for silver, as reported in 1998 | 2001 | 11169846 | ||||||||||
| 653 | OMIA:001445-93934 | Japanese quail | Feather colour, lavender | MLPH | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a large deletion in the region of the quail MLPH gene | 2002 | 12011184 | ||||||||||
| 316 | OMIA:000545-93934 | Japanese quail | Hypotrophic axonopathy | NEFL | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.352C>T | p.(Q114*) | 1993 | 8468353 | |||||||||
| 1071 | OMIA:002191-93934 | Japanese quail | Yellowish plumage | PMEL | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | g.811370G>A | p.(W149*) | Ishishita et al. (2018): g.811370G>A (NC_029544.1); Trp149* | 2018 | 30425278 | ||||||||
| 386 | OMIA:000370-93934 | Japanese quail | Feather colour, albinism, sex-linked, imperfect | SLC45A2 | splicing | Naturally occurring variant | Not currently ISAG evaluated | a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4" | 2007 | 17151254 | ||||||||||
| 259 | OMIA:000370-93934 | Japanese quail | Feather colour, cinnamon | SLC45A2 | missense | Naturally occurring variant | Not currently ISAG evaluated | c.287C>A | p.(A72D) | 2007 | 17151254 | |||||||||
| 258 | OMIA:001322-93934 | Japanese quail | Feather colour, roux | TYRP1 | missense | Naturally occurring variant | Not currently ISAG evaluated | c.845T>C | p.(F282S) | 2007 | 18028514 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
| Overall Statistics | |
|---|---|
| Total number of variants | 13 |
| Variants with genomic location | 0 (0.0% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, gross (>20) | 2 | 15.4% |
| deletion, small (<=20) | 3 | 23.1% |
| duplication | 1 | 7.7% |
| missense | 4 | 30.8% |
| nonsense (stop-gain) | 2 | 15.4% |
| splicing | 1 | 7.7% |
| Variant Effect | Count | Percent |
|---|---|---|
| unknown | 13 | 100.0% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1993 | 1 | 7.7% |
| 1994 | 0 | 0.0% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 1 | 7.7% |
| 1999 | 0 | 0.0% |
| 2000 | 0 | 0.0% |
| 2001 | 1 | 7.7% |
| 2002 | 1 | 7.7% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 1 | 7.7% |
| 2007 | 4 | 30.8% |
| 2008 | 2 | 15.4% |
| 2009 | 0 | 0.0% |
| 2010 | 0 | 0.0% |
| 2011 | 0 | 0.0% |
| 2012 | 0 | 0.0% |
| 2013 | 0 | 0.0% |
| 2014 | 0 | 0.0% |
| 2015 | 0 | 0.0% |
| 2016 | 0 | 0.0% |
| 2017 | 0 | 0.0% |
| 2018 | 1 | 7.7% |
| 2019 | 1 | 7.7% |