Cntnap3 - SNV Details



 Gene Information 
Gene Name Cntnap3
Gene Description contactin associated protein-like 3 [Source:MGI Symbol;Acc:MGI:3588199]
Uniprot Name
CCDS Name
Gene GO
signal transduction; cell adhesion; protein binding; cellular_component; biological_process; receptor binding; molecular_function
Homolog in other species CNTNAP3
Immgen Expression
LOW
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
LOW
LOW
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033063
Chromosome 13
Coordinate 64,794,352     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.69
C:V0.31
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL00976
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.91
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved