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
CCDS 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
Omim http://omim.org/entry/602113
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000048154
Chromosome 15
Coordinate 98,865,492     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.36
C:V0.64
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02291
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved