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
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
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

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

 Availability Details 
Availability Progeny Cryopreserved