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 47,659,195     (Assembly: GRCm38)    
Ref Base T
Codon Change Aca/Gca
Var Base C
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 2693
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01986
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.14
Sift Prediction tolerated

 Availability Details 
Availability