Gmeb2 - SNV Details



 Gene Information 
Gene Name Gmeb2
Old Gene Names for Gmeb2 Ai839884
Gene Description glucocorticoid modulatory element binding protein 2 [Source:MGI Symbol;Acc:MGI:2652836]
Uniprot Name
CCDS Name
Gene GO
phosphorelay signal transduction system; transcription coactivator activity; regulation of transcription
DNA-templated; cytoplasm; metal ion binding; regulation of RNA biosynthetic process; DNA binding; nucleus; biological_process; signal transducer activity; transcription
DNA-templated; molecular_function
Homolog in other species GMEB2
Omim http://omim.org/entry/607451
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038705
Chromosome 2
Coordinate 181,265,883     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
G:R0.60
A:V0.40
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02882
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability