Kmt2c - SNV Details



 Gene Information 
Gene Name Kmt2c
Old Gene Names for Kmt2c E330008k23rik , Mll3
Gene Description myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]
MGI phenotype Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; transcription
DNA-dependent; zinc ion binding; DNA binding; histone H3-K4 methylation; protein binding; nucleus; histone methyltransferase activity (H3-K4 specific); regulation of transcription
DNA-dependent; histone methylation; histone methyltransferase complex
Homolog in other species MLL3
Omim http://omim.org/entry/606833
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Gnf Expression
MEDIAN
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038056
Chromosome 5
Coordinate 25,273,666     (Assembly: GRCm38)    
Ref Base T
Codon Change tgA/tgG
Var Base C
Zygosity Heterozygous
Read Depth 137
Allele Frequency
T:R0.47
C:V0.53
Amino Acid Position 4905
Amino Acid Change Stop->W (Stop -> Tryptophan)
Sample ID IGL01598
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved