|Institutional Source||Beutler Lab|
|Gene Name||hes family bHLH transcription factor 7|
|Is this an essential gene?||Probably essential (E-score: 0.755)|
|Stock #||R8031 (G1)|
|Chromosomal Location||69120404-69124055 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 69122765 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 150 (A150V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024543 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021268] [ENSMUST00000024543] [ENSMUST00000175661] [ENSMUST00000180487]|
AA Change: A150V
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: A150V
|Meta Mutation Damage Score||0.0867|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted somite formation leading to skeletal defects including short trunk and tail, reduced numbers of ribs, and deformed and fused vertebrae, and neonatal death. Some heterozygotes have tail kinks. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hes7||
(F):5'- CACCATGGCGAGGTTAATAACACC -3'
(R):5'- AGGGCCAAGGTCTCCAAAAC -3'
(F):5'- GTTAATAACACCCGCGCGTGTC -3'
(R):5'- CAAGGTCTCCAAAACGCGGG -3'