OMIA 002037-9913 : Abortion (embryonic lethality), RABGGTB-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): missense p.Tyr195Cys

Breed: Holstein-Friesian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RABGGTB Rab geranylgeranyltransferase beta subunit Bos taurus 3 NC_037330.1 (69064680..69057845) RABGGTB 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
Holstein-Friesian Abortion (embryonic lethality), RABGGTB RABGGTB missense UMD3.1 3 g.69318970A>G c.584A>G p.Y195C 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.

Edit History


  • Created by Frank Nicholas on 01 Sep 2016
  • Changed by Frank Nicholas on 01 Sep 2016