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
DNA-dependent
DNA binding
chromatin modification
cytoplasm
histone H3-K4 methylation
histone methylation
histone methyltransferase activity (H3-K4 specific)
histone methyltransferase complex
intracellular signal transduction
keratinization
metal ion binding
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 25,293,161     (Assembly: GRCm38)    
Ref Base A
Codon Change Ttt/Att
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:0.48
T:0.52
Amino Acid Position 3914
Amino Acid Change F->I (Phenylalanine -> Isoleucine)
Sample ID IGL00694
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved