Zfp423 - SNV Details



 Gene Information 
Gene Name Zfp423
Old Gene Names for Zfp423 Zfp104 , Ebfaz
Gene Description zinc finger protein 423 [Source:MGI Symbol;Acc:MGI:1891217]
Uniprot Name
CCDS Name
Gene GO
cell differentiation; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; nervous system development; intracellular; zinc ion binding; protein homodimerization activity; protein binding; nucleus; positive regulation of transcription
DNA-dependent; Notch signaling pathway; nucleic acid binding; positive regulation of BMP signaling pathway; protein heterodimerization activity
Homolog in other species ZNF423
Omim http://omim.org/entry/604557
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN PITUITARY, AMYGDALA, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045333
Chromosome 8
Coordinate 87,780,662     (Assembly: GRCm38)    
Ref Base T
Codon Change cAc/cGc
Var Base C
Zygosity Heterozygous
Read Depth 69
Allele Frequency
T:R0.59
C:V0.41
Amino Acid Position 1018
Amino Acid Change H->R (Histidine -> Arginine)
Sample ID IGL01359
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000105282:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Zinc finger, C2H2-like Znf_C2H2-like IPR015880 ENSMUSP00000105282 Smart 996
1018 Description available Search pathways

 Availability Details 
Availability Cryopreserved