|Institutional Source||Beutler Lab|
|Gene Name||GLI-Kruppel family member GLI3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1596 (G1)|
|Chromosomal Location||15463235-15730026 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 15725471 bp|
|Amino Acid Change||Glutamine to Lysine at position 1148 (Q1148K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110510]|
|Predicted Effect||possibly damaging
AA Change: Q1148K
PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Q1148K
|Meta Mutation Damage Score||0.06|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gli3||
(F):5'- GATGAAGACCTCCTGCCAGATGATG -3'
(R):5'- CCCACTGTGGATTGCAAAGTGCTC -3'
(F):5'- CCTGCCAGATGATGTGGTACAG -3'
(R):5'- AACCTTCCACAGATTATGTGGGTG -3'