Mcam - SNV Details



 Gene Information 
Gene Name Mcam
Old Gene Names for Mcam Av025631
Gene Description melanoma cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1933966]
Uniprot Name
CCDS Name
Gene GO
vascular wound healing; cell adhesion; positive regulation of cell migration; glomerular filtration; external side of plasma membrane; protein binding; integral component of membrane; nucleus; heterophilic cell-cell adhesion; plasma membrane; extracellular space
Homolog in other species MCAM
Omim http://omim.org/entry/155735
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032135
Chromosome 9
Coordinate 44,140,417     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 40
Allele Frequency
T:R0.57
C:V0.42
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02682
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability