OMIA 001960-9913 : Abortion due to haplotype FH4 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: 2015

Mapping: Chromosome BTA12: 10,859,759-12,805,107 (UMD3.1 genome assembly) (Pausch et al., 2015)

Molecular basis: Missense mutatiopn: c.949T>C, p.W317R (11,131,497 bp; rs110793536; UMD3.1 assembly) in SUGT1 (Pausch et al., 2015)

Breed: Fleckvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone Bos taurus 12 NC_037339.1 (11143201..11101324) SUGT1 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
Fleckvieh Abortion due to haplotype FH4 SUGT1 missense UMD3.1 12 g.11131497T>C c.949T>C p.W317R rs110793536 2015 25927203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2015 Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., Fries, R. :
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics 16:312, 2015. Pubmed reference: 25927203. DOI: 10.1186/s12864-015-1483-7.

Edit History


  • Created by Frank Nicholas on 28 Apr 2015
  • Changed by Frank Nicholas on 30 Apr 2015