Zhx1 - SNV Details



 Gene Information 
Gene Name Zhx1
Gene Description zinc fingers and homeoboxes 1 [Source:MGI Symbol;Acc:MGI:109271]
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; intracellular; zinc ion binding; transcription corepressor activity; DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity
Homolog in other species ZHX1
Omim http://omim.org/entry/604764
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022361
Chromosome 15
Coordinate 58,054,371     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 69
Allele Frequency
C:R0.49
T:V0.51
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL02479
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved