Zfpm2 - SNV Details



 Human Rare Diseases 
Congenital diaphragmatic hernia
Tetralogy of Fallot

 Gene Information 
Gene Name Zfpm2
Old Gene Names for Zfpm2 B330005d23rik
Gene Description zinc finger protein, multitype 2 [Source:MGI Symbol;Acc:MGI:1334444]
MGI phenotype Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development.
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; embryonic organ development; negative regulation of transcription
DNA-templated; right ventricular cardiac muscle tissue morphogenesis; positive regulation of transcription from RNA polymerase II promoter; vasculogenesis involved in coronary vascular morphogenesis; outflow tract septum morphogenesis; cytoplasm; metal ion binding; cardiac muscle tissue morphogenesis; vasculogenesis; positive regulation of male gonad development; atrioventricular valve morphogenesis; transcription corepressor activity; DNA binding; negative regulation of cell death; protein binding; nucleic acid binding transcription factor activity; negative regulation of fat cell differentiation; nucleus; in utero embryonic development; mitral valve formation; ventricular septum morphogenesis; lung development; negative regulation of transcription from RNA polymerase II promoter; cardiac muscle tissue development; outflow tract morphogenesis; negative regulation of female gonad development; heart development; transcription factor binding; tricuspid valve formation; transcription
DNA-templated
Homolog in other species ZFPM2
Omim http://omim.org/entry/603693
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022306
Chromosome 15
Coordinate 41,103,013     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 53
Allele Frequency
C:R0.53
A:V0.47
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL02792
Median Base Quality 38
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved