Male subfertility, EML5-related
Phenotype Details
- Phene ID
- 6187
- Name
- Male subfertility, EML5-related
- Phene Name
- N/A
- OMIA ID
- 2904
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1753 | Male subfertility, EML5-related | 398298965 | 1 | 10 | NC_037337.1:g.100310158G>A | NM_001206576.1:c.4960C>T | NP_001193505.1:p.(R1654W) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Molecular Genetics
Nogueira et al. (2022) "A rare SNP, predicted to be deleterious was discovered within a conserved WD40 domain repeat-encoding region ... of the bovine autosomal ... EML5 gene ... in an Angus bull ... with low fertility." The authors "demonstrate that this mutant allele is present in many breeds world-wide."