|Institutional Source||Beutler Lab|
|Gene Name||GLIS family zinc finger 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.336)|
|Stock #||R7922 (G1)|
|Chromosomal Location||28258851-28680077 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 28317373 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 675 (D675G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124635 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000162022]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D675G
PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D675G
|Coding Region Coverage||
FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glis3||
(F):5'- TGACACCGCAGATGAGTCTC -3'
(R):5'- GTCTCCTAAAGTACCCACCAGG -3'
(F):5'- TCTCAGGCGAACAAGATTTGCTG -3'
(R):5'- GGCCAGATAACTGACCCTTCTG -3'