Smek2 - SNV Details



 Gene Information 
Gene Name Smek2
Old Gene Names for Smek2 Aw011752 , Aw557776
Gene Description SMEK homolog 2, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:2144474]
Uniprot Name
CCDS Name
Gene GO
protein dephosphorylation; regulation of lipid metabolic process; cytoplasm; protein phosphatase 4 complex; protein binding; binding; nucleus; microtubule organizing center; positive regulation of gluconeogenesis
Homolog in other species SMEK2
Omim http://omim.org/entry/610352
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020463
Chromosome 11
Coordinate 29,188,445     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 10
Allele Frequency
T:R0.60
G:V0.40
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL02713
Median Base Quality 36
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved