Klf11 - SNV Details

 Human Rare Diseases 
MODY syndrome

 Gene Information 
Gene Name Klf11
Old Gene Names for Klf11 D12ertd427e , Tieg2 , Tieg3
Gene Description Kruppel-like factor 11 [Source:MGI Symbol;Acc:MGI:2653368]
MGI phenotype Mice homozygous for a knock-out allele are viable and fertile, show normal hematopoiesis, growth and development, and display no evidence of increased tumor formation following gamma-irradiation.
Uniprot Name
Gene GO
negative regulation of transcription
DNA-dependent; regulation of transcription involved in S phase of mitotic cell cycle; apoptotic process; positive regulation of apoptotic process; intracellular; zinc ion binding; sequence-specific DNA binding RNA polymerase II transcription factor activity; DNA binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; negative regulation of cell proliferation; nucleus; negative regulation of transcription from RNA polymerase II promoter
Homolog in other species KLF11
Omim http://omim.org/entry/603301
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020653
Chromosome 12
Coordinate 24,655,323     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 121
Allele Frequency
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL02527
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

Polyphen Score 0.06
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved