Rec8 - SNV Details



 Gene Information 
Gene Name Rec8
Old Gene Names for Rec8 Aw546880 , Rec8l1
Gene Description REC8 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1929645]
MGI phenotype Homozygous null mice display male and female infertility, failure of meiosis, azoospermia, and absence of oocytes and ovarian follicles. Mice homozygous for a targeted allele produce oocytes that fail to maintain sister chromatids during meiosis.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; meiosis; spermatid development; condensed nuclear chromosome; synapsis; condensed nuclear chromosome kinetochore; nuclear meiotic cohesin complex; protein binding; meiotic cohesin complex; lateral element; nucleus; synaptonemal complex; male germ cell nucleus; male meiosis I; nuclear chromosome; chromosome segregation; oocyte maturation; condensed nuclear chromosome
centromeric region
Homolog in other species REC8
Omim http://omim.org/entry/608193
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000002324
Chromosome 14
Coordinate 55,624,879     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 78
Allele Frequency
T:R0.51
A:V0.47
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02116
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved