Mau2 - SNV Details



 Gene Information 
Gene Name Mau2
Old Gene Names for Mau2 A930019l04rik , C77863 , 9130404d08rik , C79014
Gene Description MAU2 chromatid cohesion factor homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1921799]
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; cell division; protein binding; nucleus; chromatin; SMC loading complex; protein N-terminus binding; maintenance of mitotic sister chromatid cohesion
Homolog in other species MAU2
Omim http://omim.org/entry/614560
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000031858
Chromosome 8
Coordinate 70,029,245     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.47
T:V0.53
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL01684
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved