Kdm5b - SNV Details



 Gene Information 
Gene Name Kdm5b
Old Gene Names for Kdm5b Jarid1b , 2010009j12rik , 2210016i17rik , Aw556288 , D1ertd202e , Plu1
Gene Description lysine (K)-specific demethylase 5B [Source:MGI Symbol;Acc:MGI:1922855]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; histone demethylase activity (H3-K4 specific); negative regulation of transcription
DNA-templated; intracellular; histone H3-K4 demethylation; zinc ion binding; transcription corepressor activity; 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; histone demethylase activity (H3-dimethyl-K4 specific); protein binding; histone demethylase activity (H3-trimethyl-K4 specific); nucleus; histone H3-K4 demethylation
trimethyl-H3-K4-specific; nucleolus; transcription
DNA-templated
Homolog in other species KDM5B
Omim http://omim.org/entry/605393
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042207
Chromosome 1
Coordinate 134,587,979     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 10
Allele Frequency
C:R0.70
A:V0.30
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL03056
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.82
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved