|Institutional Source||Beutler Lab|
|Gene Name||hes family bHLH transcription factor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0134 (G1)|
|Chromosomal Location||30064384-30067796 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 30067250 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 224 (V224A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023171 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023171]|
AA Change: V224A
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V224A
|Meta Mutation Damage Score||0.3077|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show anomalous timing in neurogenesis. Homozygotes for a null allele exhibit premature neurogenesis, severe neural tube defects, supernumerary hair cells in the inner ear, increased numbers of pulmonary neuroendocrine cells, and pancreatic hypoplasia. Death occurs in utero or neonatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hes1||
(F):5'- TTCAGCGAGTGCATGAACGAGG -3'
(R):5'- CAAATGCAGTGCATGGTCAGTCAC -3'
(F):5'- TGTGAGGGCGTTAACACC -3'
(R):5'- GCATGGTCAGTCACTTAATACAGC -3'