|Institutional Source||Beutler Lab|
|Gene Name||grainyhead like transcription factor 3|
|Synonyms||Som, ct, Get1|
|Is this an essential gene?||Probably essential (E-score: 0.941)|
|Stock #||R6429 (G1)|
|Chromosomal Location||135541888-135573630 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 135557196 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 195 (D195V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101481 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105855]|
AA Change: D195V
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: D195V
|Coding Region Coverage||
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'- AGAATAAGTGGCCATGTTCAGG -3'
(R):5'- AATCTGCTAGGCTTGGAGGG -3'
(F):5'- GCAAATTTGGATGGCTGTACAC -3'
(R):5'- CTAGGCTTGGAGGGGGTTCTAC -3'