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 component of 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 48,287,495     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 40
Allele Frequency
A:R0.48
T:V0.52
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL00158
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.08
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved