Kmt2a - SNV Details

 Gene Information 
Gene Name Kmt2a
Old Gene Names for Kmt2a All1 , Mll , Mll1
Gene Description myeloid/lymphoid or mixed-lineage leukemia 1 [Source:MGI Symbol;Acc:MGI:96995]
MGI phenotype Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.
Uniprot Name
Gene GO
MLL1 complex; chromatin binding; transcription
DNA-dependent; embryonic hemopoiesis; anterior/posterior pattern specification; nuclear part; positive regulation of transcription from RNA polymerase II promoter; histone acetyl-lysine binding; zinc ion binding; DNA binding; DNA methylation; regulation of histone H3-K4 methylation; histone H3-K4 methylation; protein binding; negative regulation of cell proliferation; nucleus; positive regulation of transcription
DNA-dependent; histone methyltransferase activity (H3-K4 specific); unmethylated CpG binding; histone H4-K16 acetylation; regulation of transcription
DNA-dependent; histone methyltransferase complex
Homolog in other species MLL
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002028
Chromosome 9
Coordinate 44,849,005     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Ccc
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
Amino Acid Position 516
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01777
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details