Kdm1a - SNV Details



 Gene Information 
Gene Name Kdm1a
Old Gene Names for Kdm1a Kdm1 , 1810043o07rik , Aa408884 , Aof2 , D4ertd478e
Gene Description lysine (K)-specific demethylase 1A [Source:MGI Symbol;Acc:MGI:1196256]
MGI phenotype Mice homozygous for a null allele exhibit early embryonic lethality (E7.5) due to failure of egg cylinder elongation, and failure to gastrulate.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; positive regulation of erythrocyte differentiation; MRF binding; enzyme binding; positive regulation of sequence-specific DNA binding transcription factor activity; histone demethylase activity (H3-K4 specific); positive regulation of hormone biosynthetic process; chromatin binding; regulation of transcription
DNA-templated; oxidoreductase activity; negative regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; cell proliferation; positive regulation of neural precursor cell proliferation; granulocyte differentiation; histone H3-K4 demethylation; DNA binding; sequence-specific DNA binding transcription factor activity; regulation of primitive erythrocyte differentiation; transcription factor complex; negative regulation of sequence-specific DNA binding transcription factor activity; RNA polymerase II transcription factor binding; pituitary gland development; regulation of transcription from RNA polymerase II promoter; histone demethylase activity (H3-dimethyl-K4 specific); protein binding; transcription regulatory region DNA binding; nucleus; androgen receptor binding; negative regulation of DNA damage response
signal transduction by p53 class mediator; positive regulation of stem cell proliferation; muscle cell development; p53 binding; in utero embryonic development; flavin adenine dinucleotide binding; negative regulation of protein binding; demethylase activity; negative regulation of transcription from RNA polymerase II promoter; ligand-dependent nuclear receptor transcription coactivator activity; regulation of transcription by chromatin organization; histone demethylase activity (H3-K9 specific); nuclear chromatin; histone H3-K9 demethylation; protein demethylation; transcription factor binding; negative regulation of histone H3-K4 methylation; positive regulation of megakaryocyte differentiation; histone demethylase activity; transcription
DNA-templated; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of histone H3-K9 methylation
Homolog in other species KDM1A
Omim http://omim.org/entry/609132
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036940
Chromosome 4
Coordinate 136,552,535     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02885
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved