Kmt2d - SNV Details

 Human Rare Diseases 
Kabuki syndrome

 Gene Information 
Gene Name Kmt2d
Old Gene Names for Kmt2d Bc032281 , Bc058659 , C430014k11rik , Mll2
Gene Description myeloid/lymphoid or mixed-lineage leukemia 2 [Source:MGI Symbol;Acc:MGI:2682319]
Uniprot Name
Gene GO
response to estrogen stimulus; positive regulation of intracellular estrogen receptor signaling pathway; transcription
DNA-dependent; oogenesis; oocyte growth; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; histone-lysine N-methyltransferase activity; histone H3-K4 methylation; protein binding; transcription regulatory region DNA binding; nucleus; in utero embryonic development; methyltransferase activity; positive regulation of cell proliferation; histone methyltransferase complex; chromatin silencing
Homolog in other species MLL2
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048154
Chromosome 15
Coordinate 98,853,168     (Assembly: GRCm38)    
Ref Base G
Codon Change Cct/Tct
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
Amino Acid Position 2215
Amino Acid Change P->S (Proline -> Serine)
Sample ID IGL01750
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved