Kmt2a - SNV Details



 Gene Information 
Gene Name Kmt2a
Old Gene Names for Kmt2a All1 , Mll , Mll1
Gene Description lysine (K)-specific methyltransferase 2A [Source:MGI Symbol;Acc:MGI:96995]
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; MLL1 complex; histone H3-K4 trimethylation; chromatin binding; regulation of transcription
DNA-templated; embryonic hemopoiesis; anterior/posterior pattern specification; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; zinc ion binding; positive regulation of cellular response to drug; DNA binding; positive regulation of transporter activity; protein homodimerization activity; DNA methylation; lysine-acetylated histone binding; protein complex assembly; regulation of histone H3-K4 methylation; histone H3-K4 methylation; protein binding; transcription regulatory region DNA binding; negative regulation of cell proliferation; nucleus; histone methyltransferase activity (H3-K4 specific); unmethylated CpG binding; histone H4-K16 acetylation; identical protein binding; histone methyltransferase complex; transcription
DNA-templated
Homolog in other species KMT2A
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002028
Chromosome 9
Coordinate 44,824,523     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.36
T:V0.64
Amino Acid Change I->K (Isoleucine -> Lysine)
Sample ID IGL02711
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Cryopreserved