OMIA 001960-9913 : Haplotype with homozygous deficiency FH4 in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 604098 (gene)

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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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
214 Fleckvieh Abortion due to haplotype FH4 SUGT1 missense Naturally occurring variant ARS-UCD1.2 12 g.11102143A>G c.949T>C p.(W317R) rs110793536 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