Six2 - SNV Details



 Gene Information 
Gene Name Six2
Gene Description sine oculis-related homeobox 2 [Source:MGI Symbol;Acc:MGI:102778]
MGI phenotype Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; mesenchymal to epithelial transition involved in metanephros morphogenesis; mesodermal cell fate specification; positive regulation of transcription from RNA polymerase II promoter; cell proliferation; middle ear morphogenesis; negative regulation of cell differentiation; protein import into nucleus; DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; embryonic skeletal system morphogenesis; kidney development; nucleus; chondrocyte differentiation; regulation of transcription
DNA-dependent; protein complex binding; metanephros development; embryonic cranial skeleton morphogenesis
Homolog in other species SIX2
Omim http://omim.org/entry/604994
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024134
Chromosome 17
Coordinate 85,685,503     (Assembly: GRCm38)    
Ref Base C
Codon Change Gag/Aag
Var Base T
Zygosity Heterozygous
Read Depth 26
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 191
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL02468
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.38
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved