Dennd6a - SNV Details

 Gene Information 
Gene Name Dennd6a
Old Gene Names for Dennd6a A630054l15rik , Fam116a
Gene Description DENN/MADD domain containing 6A [Source:MGI Symbol;Acc:MGI:2442980]
Uniprot Name
Gene GO
cytoplasm; positive regulation of Rab GTPase activity; Rab guanyl-nucleotide exchange factor activity; regulation of Rab GTPase activity; recycling endosome; positive regulation of cell-cell adhesion mediated by cadherin
Homolog in other species DENND6A
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040818
Chromosome 14
Coordinate 26,608,613     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 26
Allele Frequency
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL00427
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved