Mtmr4 - SNV Details



 Gene Information 
Gene Name Mtmr4
Old Gene Names for Mtmr4 Aa596759
Gene Description myotubularin related protein 4 [Source:MGI Symbol;Acc:MGI:2180699]
Uniprot Name
CCDS Name
Gene GO
membrane; cytoplasm; dephosphorylation; metal ion binding; protein tyrosine phosphatase activity; cellular_component; phosphatase activity
Homolog in other species MTMR4
Omim http://omim.org/entry/603559
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018401
Chromosome 11
Coordinate 87,604,067     (Assembly: GRCm38)    
Ref Base C
Codon Change aCg/aTg
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
C:R0.50
T:V0.50
Amino Acid Position 395
Amino Acid Change T->M (Threonine -> Methionine)
Sample ID IGL01134
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved