OMIA:002035-9913 : Abortion (embryonic lethality), OBFC1-related in Bos taurus (taurine cattle) |
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613128 (gene) , 617341 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Molecular basis: Charlier et al. (2016): frame-shift p.Lys127Valfs∗28
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
Jersey (Cattle) (VBO_0000250).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| OBFC1 | oligonucleotide/oligosaccharide-binding fold containing 1 | Bos taurus | 26 | NC_037353.1 (24480023..24413860) | OBFC1 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 555 | Jersey (Cattle) | Abortion (embryonic lethality), OBFC1-related | OBFC1 | deletion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 26 | g.24461804_24461805del | c.379_380del | p.(K127Vfs*29) | rs455647476 | rs455647476 | 2016 | 27646536 | 220110: Changed from g.24461803_24461804del to g.24461804_24461805del to adhere to HGVS 3'rule ENSBTAT00000019995.6:c.379_380del ENSBTAP00000019995.5:p.Lys127ValfsTer29 210909: FN changed c.379_380delAA to c.379_380del. He also added the ref sequence, based on the words in the text "Sequence reads were aligned to the bosTau6 reference genome". FN also checked the g. location against Suppl Material S2, which lists the location as 24720154. However, a search of the UMD assembly confirms that the AA del is actually as given, i.e. g.24720155_24720156del |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002035-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2016 | Charlier, C., Li, W., Harland, C., Littlejohn, M., Coppieters, W., Creagh, F., Davis, S., Druet, T., Faux, P., Guillaume, F., Karim, L., Keehan, M., Kadri, N.K., Tamma, N., Spelman, R., Georges, M. : |
| NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock. Genome Res 26:1333-1341, 2016. Pubmed reference: 27646536. DOI: 10.1101/gr.207076.116. |
Edit History
- Created by Frank Nicholas on 01 Sep 2016
- Changed by Frank Nicholas on 01 Sep 2016