Glis1 - SNV Details



 Gene Information 
Gene Name Glis1
Gene Description GLIS family zinc finger 1 [Source:MGI Symbol;Acc:MGI:2386723]
MGI phenotype Homozygous mice do not exhibit any overt abnormalities, including behavior, kidney or tooth morphology, up to 6 months of age.
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; metal ion binding; RNA polymerase II regulatory region sequence-specific DNA binding; DNA binding; regulation of transcription from RNA polymerase II promoter; nucleus; negative regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; transcription
DNA-templated
Homolog in other species GLIS1
Omim http://omim.org/entry/610378
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034762
Chromosome 4
Coordinate 107,435,905     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.32
G:V0.68
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL03167
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability