OMIA 002038-9913 : Abortion (embryonic lethality), RNF20-related in Bos taurus

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): nonsense (stop-gain) p.Lys693∗

Breed: Holstein-Friesian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RNF20 ring finger protein 20 Bos taurus 8 NC_037335.1 (91277019..91302627) RNF20 Homologene, Ensembl, NCBI gene


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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
Holstein-Friesian Abortion (embryonic lethality), RNF20 RNF20 nonsense (stop-gain) UMD3.1 8 g.92930920A>T c.2077A>T p.K693* 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.

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  • Created by Frank Nicholas on 01 Sep 2016