Cntn4 - SNV Details



 Human Rare Diseases 
Distal monosomy 3p

 Gene Information 
Gene Name Cntn4
Old Gene Names for Cntn4 Axcam
Gene Description contactin 4 [Source:MGI Symbol;Acc:MGI:1095737]
MGI phenotype Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb.
Uniprot Name
CCDS Name
Gene GO
nervous system development; negative regulation of neuron differentiation; cell adhesion; protein binding; neuron projection development; extracellular region; anchored to membrane; plasma membrane; brain development
Homolog in other species CNTN4
Omim http://omim.org/entry/607280
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000064293
Chromosome 6
Coordinate 106,550,431     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Att
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
G:R0.46
A:V0.54
Amino Acid Position 425
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL01710
Median Base Quality 31
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.76
Polyphen Prediction Possibly damaging
Sift Score 0.22
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000108886:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Immunoglobulin subtype 2 Ig_sub2 IPR003598 ENSMUSP00000108886 Smart 420
484 Description available Search pathways
Immunoglobulin I-set Ig_I-set IPR013098 ENSMUSP00000108886 Pfam 409
494 Description available Search pathways
Immunoglobulin-like domain Ig-like_dom IPR007110 ENSMUSP00000108886 Prosite_profiles 406
493 Description available Search pathways
Immunoglobulin V-set domain Ig_V-set IPR013106 ENSMUSP00000108886 Pfam 414
483 Description available Search pathways
Immunoglobulin subtype Ig_sub IPR003599 ENSMUSP00000108886 Smart 414
495 Description available Search pathways
Immunoglobulin Immunoglobulin IPR013151 ENSMUSP00000108886 Pfam 422
478 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved