OMIA 002042-9913 : Abortion (embryonic lethality), EXOSC4-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.Arg64∗

Breed: Belgian Blue.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EXOSC4 exosome component 4 Bos taurus 14 NC_037341.1 (757010..755134) EXOSC4 Homologene, Ensembl, NCBI gene

Variants

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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
Belgian Blue Abortion (embryonic lethality), EXOSC4 EXOSC4 nonsense (stop-gain) UMD3.1 14 g.1947890G>A c.190G>A p.R64* 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.

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  • Created by Frank Nicholas on 01 Sep 2016