Gm11149,Ncam1 - SNV Details



 Gene Information 
Gene Name Gm11149 , Ncam1
Old Gene Names for Gm11149 Ensmusg00000060603 , Ensmusg00000079564
Gene Description predicted gene 11149 [Source:MGI Symbol;Acc:MGI:3642683],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.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
homotypic cell-cell adhesion; positive regulation of calcium-mediated signaling; external side of plasma membrane; cell-cell junction; protein binding; neuronal cell body; neuron projection development; axon; regulation of exocyst assembly; cell surface receptor signaling pathway; growth cone
NO_GO
Homolog in other species NO_HOMOLOG,NCAM1
Omim NO_OMIM,http://omim.org/entry/116930
Immgen Expression
MEDIAN(HIGH IN GN.BM)
MEDIAN,NO_IMMGEN
Gnf Expression
NO_GNF,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 49,523,565     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL00592
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability