Dsg1b - SNV Details



 Gene Information 
Gene Name Dsg1b
Gene Description desmoglein 1 beta [Source:MGI Symbol;Acc:MGI:2664357]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; homophilic cell adhesion; desmosome; plasma membrane; calcium ion binding
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061928
Chromosome 18
Coordinate 20,409,178     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 125
Allele Frequency
T:R0.47
C:V0.53
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02560
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.87
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved