Mtf1 - SNV Details



 Gene Information 
Gene Name Mtf1
Gene Description metal response element binding transcription factor 1 [Source:MGI Symbol;Acc:MGI:101786]
MGI phenotype Mice homozygous for a targeted null mutation show impaired hepatocyte development followed by embryonic liver degeneration, generalized edema, and death at ~14 days of gestation. Mutant embryonic fibroblasts show increased susceptibility to the cytotoxic effects of cadmium and hydrogen peroxide.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; core promoter binding; RNA polymerase II core promoter sequence-specific DNA binding; response to oxidative stress; intracellular; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; histone acetyltransferase binding; nucleus; positive regulation of transcription
DNA-dependent; response to cadmium ion
Homolog in other species MTF1
Omim http://omim.org/entry/600172
Immgen Expression
MEDIAN
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028890
Chromosome 4
Coordinate 124,804,927     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttt/Ctt
Var Base C
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.63
C:V0.37
Amino Acid Position 73
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01902
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.84
Polyphen Prediction Possibly damaging
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved