OMIA:001902-9913 : Male subfertility, TMEM95-related in Bos taurus (taurine cattle)
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 617814 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2014
Mapping: A GWAS by Pausch et al. (2014) for male reproductive ability (ranging "from −40 to +13 and reflect[ing] the bulls' reproductive performance as percentage deviation from the population mean, based on 15 million artificial inseminations") on 7961 Fleckvieh AI bulls, each with imputed genotypes of 652,856 SNPs, highlighted a region on chromosome BTA19. Subsequent autozygosity mapping narrowed the region to 1386 kb.
Molecular basis: As reported by Pausch et al. (2014), "whole-genome re-sequencing data of 43 animals revealed a candidate causal nonsense mutation (rs378652941, c.483C>A, p.Cys161X) in the transmembrane protein 95 encoding gene TMEM95 which was subsequently validated in 1990 AI bulls. Immunohistochemical investigations evidenced that TMEM95 is located at the surface of spermatozoa of fertile animals whereas it is absent in spermatozoa of subfertile animals". Only "1.7% of 35,671 inseminations" were successful in bulls that are homozygous for the mutation.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TMEM95||transmembrane protein 95||Bos taurus||19||NC_037346.1 (27054969..27059048)||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.
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||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|779||Simmental (Cattle)||Male subfertility||TMEM95||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||19||g.27056843C>A||c.483C>A||p.(C161*)||rs378652941||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|
Cite this entry
|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