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
CCDS 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
HIGH
Gnf Expression
MEDIAN(HIGH IN IMM.G1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002028
Chromosome 9
Coordinate 44,809,096     (Assembly: GRCm38)    
Ref Base T
Codon Change Aca/Gca
Var Base C
Zygosity Heterozygous
Read Depth 71
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 3862
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01432
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 75 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.13
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000002095:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Methyltransferase, trithorax MeTrfase_trithorax IPR016569 ENSMUSP00000002095 PIRSF 1
3963 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating