Zbtb38 - SNV Details



 Gene Information 
Gene Name Zbtb38
Old Gene Names for Zbtb38 A930014k01rik
Gene Description zinc finger and BTB domain containing 38 [Source:MGI Symbol;Acc:MGI:2442866]
Uniprot Name
CCDS Name
Gene GO
methyl-CpG binding; negative regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; metal ion binding; sequence-specific DNA binding transcription factor activity; protein homodimerization activity; protein binding; nucleus; nucleic acid binding; blood microparticle
Homolog in other species ZBTB38
Omim http://omim.org/entry/612218
Immgen Expression
MEDIAN
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040433
Chromosome 9
Coordinate 96,687,494     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 63
Allele Frequency
C:R0.56
A:V0.44
Amino Acid Change R->S (Arginine -> Serine)
Sample ID IGL00228
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved