Kmt2d - SNV Details



 Gene Information 
Gene Name Kmt2d
Old Gene Names for Kmt2d Bc032281 , Bc058659 , C430014k11rik , Mll2
Gene Description lysine (K)-specific methyltransferase 2D [Source:MGI Symbol;Acc:MGI:2682319]
Uniprot Name
CCDS Name
Gene GO
positive regulation of intracellular estrogen receptor signaling pathway; oogenesis; oocyte growth; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; histone-lysine N-methyltransferase activity; response to estrogen; histone H3-K4 methylation; protein binding; transcription regulatory region DNA binding; nucleus; in utero embryonic development; positive regulation of cell proliferation; histone methyltransferase complex; transcription
DNA-templated; chromatin silencing
Homolog in other species KMT2D
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048154
Chromosome 15
Coordinate 98,855,543     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Change M->T (Methionine -> Threonine)
Sample ID IGL03102
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 

 Availability Details 
Availability