OMIA 001902-9913 : Male subfertility in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TMEM95||transmembrane protein 95||Bos taurus||19||NC_037346.1 (27054972..27057600)||TMEM95||Homologene, Ensembl, NCBI gene|
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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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Fleckvieh||Male subfertility||TMEM95||nonsense (stop-gain)||UMD3.1||19||g.27689622C>A||c.483C>A||p.Cys161*||rs378652941||2014||24391514||Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
|2014||Pausch, H., Kölle, S., Wurmser, C., Schwarzenbacher, H., Emmerling, R., Jansen, S., Trottmann, M., Fuerst, C., Götz, K.U., Fries, R. :|
|A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle. PLoS Genet 10:e1004044, 2014. Pubmed reference: 24391514. DOI: 10.1371/journal.pgen.1004044.|
- Created by Frank Nicholas on 09 Jan 2014
- Changed by Frank Nicholas on 09 Jan 2014
- Changed by Frank Nicholas on 04 Aug 2017