Kmt2c - SNV Details



 Gene Information 
Gene Name Kmt2c
Old Gene Names for Kmt2c E330008k23rik , Mll3
Gene Description lysine (K)-specific methyltransferase 2C [Source:MGI Symbol;Acc:MGI:2444959]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; regulation of transcription
DNA-templated; poly(A) RNA binding; zinc ion binding; DNA binding; histone H3-K4 methylation; protein binding; nucleus; histone methyltransferase activity (H3-K4 specific); histone methylation; histone methyltransferase complex; transcription
DNA-templated
Homolog in other species KMT2C
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038056
Chromosome 5
Coordinate 25,315,361     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.61
G:V0.37
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL03131
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved