Klf12 - SNV Details



 Gene Information 
Gene Name Klf12
Old Gene Names for Klf12 D530033k05rik , 2700063e05rik , Ai225908 , Ai315654 , B130052c06rik
Gene Description Kruppel-like factor 12 [Source:MGI Symbol;Acc:MGI:1333796]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; intracellular; zinc ion binding; 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
Homolog in other species KLF12
Omim http://omim.org/entry/607531
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC GROUP, NK GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN NS GROUP)
MEDIAN(HIGH IN PITUITARY, AMYGDALA, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000072294
Chromosome 14
Coordinate 100,149,757     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aAc
Var Base T
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.64
T:V0.36
Amino Acid Position 3
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01392
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved