Ncam1 - SNV Details



 Gene Information 
Gene Name Ncam1
Gene Description neural cell adhesion molecule 1 [Source:MGI Symbol;Acc:MGI:97281]
MGI phenotype Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions.
Uniprot Name
CCDS Name
Gene GO
homotypic cell-cell adhesion; positive regulation of calcium-mediated signaling; external side of plasma membrane; protein binding; cell surface; neuronal cell body; neuron projection development; axon; regulation of exocyst assembly; cell surface receptor signaling pathway; growth cone
Homolog in other species NCAM1
Omim http://omim.org/entry/116930
Immgen Expression
MEDIAN(HIGH IN GN.BM)
MEDIAN
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039542
Chromosome 9
Coordinate 49,567,402     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 43
Allele Frequency
A:R0.47
G:V0.54
Amino Acid Position 142
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02239
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.26
Polyphen Prediction Benign
Sift Score 0.06
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved