Gli3 - SNV Details



 Human Rare Diseases 
Greig cephalopolysyndactyly syndrome
Polysyndactyly, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type B, bilateral
Acrocallosal syndrome
Polysyndactyly, unilateral
Postaxial polydactyly type B, unilateral
Pallister-Hall syndrome

 Gene Information 
Gene Name Gli3
Old Gene Names for Gli3 Ai854843 , Au023367
Gene Description GLI-Kruppel family member GLI3 [Source:MGI Symbol;Acc:MGI:95729]
MGI phenotype Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.
Uniprot Name
CCDS Name
Gene GO
inner ear development; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; T cell differentiation in thymus; limb morphogenesis; artery development; negative regulation of smoothened signaling pathway; cilium; chromatin binding; sagittal suture morphogenesis; odontogenesis of dentin-containing tooth; transcription
DNA-dependent; positive regulation of chondrocyte differentiation; lateral semicircular canal development; neuron fate commitment; mammary gland specification; anterior semicircular canal development; negative regulation of neuron differentiation; anterior/posterior pattern specification; frontal suture morphogenesis; mammary gland development; positive regulation of transcription from RNA polymerase II promoter; beta-catenin binding; cytoplasm; neural tube development; negative regulation of apoptotic process; embryonic digit morphogenesis; cell differentiation involved in kidney development; smoothened signaling pathway involved in ventral spinal cord interneuron specification; forebrain dorsal/ventral pattern formation; limb development; negative thymic T cell selection; melanocyte differentiation; negative regulation of cell differentiation; dorsal/ventral pattern formation; camera-type eye morphogenesis; intracellular; embryonic digestive tract development; proximal/distal pattern formation; zinc ion binding; negative regulation of canonical Wnt receptor signaling pathway; protein processing; sequence-specific DNA binding transcription factor activity; branching morphogenesis of a tube; regulation of gene expression; intracellular membrane-bounded organelle; tube development; lambdoid suture morphogenesis; protein binding; transcriptional repressor complex; negative regulation of cell proliferation; embryonic skeletal system morphogenesis; regulation of cell differentiation; histone acetyltransferase binding; kidney development; pallium development; anatomical structure development; palate development; nucleus; positive regulation of neuroblast proliferation; lateral ganglionic eminence cell proliferation; positive regulation of protein import into nucleus; in utero embryonic development; embryonic morphogenesis; regulation of cell proliferation; branching involved in ureteric bud morphogenesis; subpallium development; cytosol; positive regulation of transcription
DNA-dependent; oligodendrocyte differentiation; embryonic limb morphogenesis; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; telencephalon development; negative regulation of alpha-beta T cell differentiation; lung development; histone deacetylase binding; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; regulation of transcription
DNA-dependent; axon guidance; negative regulation of transcription from RNA polymerase II promoter; forebrain radial glial cell differentiation; pattern specification process; anatomical structure formation involved in morphogenesis; mediator complex; cerebral cortex radial glia guided migration; hindgut morphogenesis; metanephros development; forebrain development; positive regulation of alpha-beta T cell differentiation; thymocyte apoptotic process; central nervous system development; nucleolus; optic nerve morphogenesis; regulation of apoptotic process; heart development; camera-type eye development; spinal cord dorsal/ventral patterning; smoothened signaling pathway; developmental growth; brain development; embryonic digestive tract morphogenesis; positive regulation of osteoblast differentiation; tongue development
Homolog in other species GLI3
Omim http://omim.org/entry/165240
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021318
Chromosome 13
Coordinate 15,723,693     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gGg
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.50
G:V0.50
Amino Acid Position 786
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL02346
Median Base Quality 34.5
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved