Cntnap5b - SNV Details



 Gene Information 
Gene Name Cntnap5b
Old Gene Names for Cntnap5b C230078m14rik
Gene Description contactin associated protein-like 5B [Source:MGI Symbol;Acc:MGI:3664583]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; signal transduction; cell adhesion; protein binding; receptor binding
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000067028
Chromosome 1
Coordinate 100,072,069     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 76
Allele Frequency
A:R0.51
T:V0.49
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02628
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved