Csmd3 - SNV Details



 Gene Information 
Gene Name Csmd3
Old Gene Names for Csmd3 4930500n14rik
Gene Description CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cellular_component; plasma membrane; biological_process; molecular_function
Homolog in other species CSMD3
Omim http://omim.org/entry/608399
Immgen Expression
LOW
LOW
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
LOW
LOW
LOW
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022311
Chromosome 15
Coordinate 47,666,628     (Assembly: GRCm38)    
Ref Base A
Codon Change gTt/gGt
Var Base C
Zygosity Heterozygous
Read Depth 70
Allele Frequency
A:R0.37
C:V0.63
Amino Acid Position 2592
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL02065
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability