Cntnap1 - SNV Details



 Gene Information 
Gene Name Cntnap1
Old Gene Names for Cntnap1 Ai841080 , Nrxn4
Gene Description contactin associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1858201]
MGI phenotype Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and and ataxia.
Uniprot Name
CCDS Name
Gene GO
neuromuscular process controlling posture; protein localization to paranode region of axon; cytoskeleton organization; signal transduction; SH3 domain binding; cell adhesion; protein binding; paranode region of axon; neuron projection development; neuromuscular process controlling balance; axon; paranodal junction assembly; neuron projection morphogenesis; plasma membrane; receptor binding; voltage-gated potassium channel complex; axon cargo transport
Homolog in other species CNTNAP1
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000017167
Chromosome 11
Coordinate 101,178,365     (Assembly: GRCm38)    
Ref Base A
Codon Change cAc/cTc
Var Base T
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.49
T:V0.51
Amino Acid Position 215
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL02184
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000099398:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000099398 Pfam 204
332 Description available Search pathways
Concanavalin A-like lectin/glucanases superfamily ConA-like_lec_gl_sf IPR008985 ENSMUSP00000099398 Superfamily 140
331 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000099398 Prosite_profiles 173
356 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000099398 Smart 196
333 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000099398 Pfam 204
332 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved