Zfp148 - SNV Details



 Gene Information 
Gene Name Zfp148
Old Gene Names for Zfp148 2210405j08rik , Ai480666 , Aw045217
Gene Description zinc finger protein 148 [Source:MGI Symbol;Acc:MGI:1332234]
MGI phenotype Disruption of one allele results in haploinsufficient male infertility in which chimeric males display a loss of germ cells.
Uniprot Name
CCDS Name
Gene GO
negative regulation of gene expression; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; transcription regulatory region sequence-specific DNA binding; transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; intracellular; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; protein complex assembly; protein binding; double-stranded DNA binding; nucleus; negative regulation of transcription from RNA polymerase II promoter; Golgi apparatus; gamete generation
Homolog in other species ZNF148
Omim http://omim.org/entry/601897
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN THYMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022811
Chromosome 16
Coordinate 33,496,563     (Assembly: GRCm38)    
Ref Base T
Codon Change gTt/gAt
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
T:R0.45
A:V0.55
Amino Acid Position 535
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL02059
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.13
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved