Kdm1b - SNV Details



 Gene Information 
Gene Name Kdm1b
Old Gene Names for Kdm1b Ai482520 , Aof1 , 4632428n09rik
Gene Description lysine (K)-specific demethylase 1B [Source:MGI Symbol;Acc:MGI:2145261]
MGI phenotype Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; transcription
DNA-dependent; oxidoreductase activity; DNA methylation involved in gamete generation; regulation of DNA methylation; histone H3-K4 demethylation; zinc ion binding; DNA binding; histone demethylase activity (H3-dimethyl-K4 specific); protein binding; regulation of gene expression by genetic imprinting; nucleus; flavin adenine dinucleotide binding; regulation of transcription
DNA-dependent; multicellular organismal development; histone demethylase activity (H3-monomethyl-K4 specific)
Homolog in other species KDM1B
Omim http://omim.org/entry/613081
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038080
Chromosome 13
Coordinate 47,060,855     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 86
Allele Frequency
G:R0.52
T:V0.48
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL02505
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 70 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved