Kdm5a - SNV Details



 Gene Information 
Gene Name Kdm5a
Old Gene Names for Kdm5a Jarid1a , Rbbp2 , Aa409370 , C76986
Gene Description lysine (K)-specific demethylase 5A [Source:MGI Symbol;Acc:MGI:2136980]
MGI phenotype Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatal survival is sensitive to genetic background.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; chromatin binding; transcription
DNA-dependent; cyclin-dependent protein kinase activating kinase holoenzyme complex; cytoplasm; intracellular; zinc ion binding; DNA binding; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen
2-oxoglutarate as one donor
and incorporation of one atom each of oxygen into both donors; protein binding; nucleus; positive regulation of transcription
DNA-dependent; chromatin modification; oxidoreductase activity
acting on single donors with incorporation of molecular oxygen
incorporation of two atoms of oxygen; nucleolus; multicellular organismal development
Homolog in other species KDM5A
Omim http://omim.org/entry/180202
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030180
Chromosome 6
Coordinate 120,399,016     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Aac
Var Base A
Zygosity Heterozygous
Read Depth 101
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 578
Amino Acid Change Y->N (Tyrosine -> Asparagine)
Sample ID IGL01361
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved