|Institutional Source||Beutler Lab|
|Gene Name||grainyhead like transcription factor 3|
|Synonyms||Som, ct, Get1|
|Is this an essential gene?||Probably essential (E-score: 0.927)|
|Stock #||R7345 (G1)|
|Chromosomal Location||135541888-135573630 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 135546246 bp|
|Amino Acid Change||Arginine to Glutamine at position 565 (R565Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101481 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105855]|
|Predicted Effect||probably damaging
AA Change: R565Q
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: R565Q
|Meta Mutation Damage Score||0.2774|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grhl3||
(F):5'- TGTGAGAAGACCCTTGCACC -3'
(R):5'- TGTTCTCCCCAGGGAAATAGG -3'
(F):5'- GAGAAGACCCTTGCACCTCCTC -3'
(R):5'- TCTCCCCAGGGAAATAGGATCATTG -3'