Mtmr7 - SNV Details



 Gene Information 
Gene Name Mtmr7
Gene Description myotubularin related protein 7 [Source:MGI Symbol;Acc:MGI:1891693]
Uniprot Name
CCDS Name
Gene GO
membrane; dephosphorylation; protein tyrosine phosphatase activity; inositol phosphate dephosphorylation; protein binding; cytosol; phosphatidylinositol dephosphorylation; peptidyl-tyrosine dephosphorylation; phosphatase activity
Homolog in other species MTMR7
Omim http://omim.org/entry/603562
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039431
Chromosome 8
Coordinate 40,608,929     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 38
Allele Frequency
C:R0.50
T:V0.50
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL03394
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved