Alcam - SNV Details



 Gene Information 
Gene Name Alcam
Old Gene Names for Alcam Ai853494
Gene Description activated leukocyte cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1313266]
MGI phenotype Homozygous null mice display abnormal motor neuron and retinal ganglion cell morphology and retinal dysplasia.
Uniprot Name
CCDS Name
Gene GO
cell adhesion; external side of plasma membrane; protein binding; integral component of membrane; neuronal cell body; axon; extracellular vesicular exosome; axon guidance; motor neuron axon guidance
Homolog in other species ALCAM
Omim http://omim.org/entry/601662
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022636
Chromosome 16
Coordinate 52,305,639     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aCc
Var Base G
Zygosity Heterozygous
Read Depth 64
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 105
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL02798
Median Base Quality 39
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved