OMIA:002041-9913 : Abortion (embryonic lethality), RPIA-related in Bos taurus
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608611 (trait) , 180430 (gene)
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): splice-site c.826+1G>A
Breed: Belgian Blue (Cattle) (VBO_0000139).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RPIA||ribose 5-phosphate isomerase A||Bos taurus||11||NC_037338.1 (47386164..47351588)||RPIA||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|
|416||Belgian Blue (Cattle)||Abortion (embryonic lethality), RPIA-related||RPIA||splicing||Naturally occurring variant||ARS-UCD1.2||11||g.47355110C>T||c.826+1G>A||2016||27646536||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|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.|
- Created by Frank Nicholas on 01 Sep 2016