Incidental Mutation 'R8237:Hes1'
ID 637441
Institutional Source Beutler Lab
Gene Symbol Hes1
Ensembl Gene ENSMUSG00000022528
Gene Name hes family bHLH transcription factor 1
Synonyms Hry, bHLHb39
MMRRC Submission 067669-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8237 (G1)
Quality Score 219.009
Status Validated
Chromosome 16
Chromosomal Location 29883259-29886614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29886047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 217 (V217A)
Ref Sequence ENSEMBL: ENSMUSP00000023171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023171]
AlphaFold P35428
Predicted Effect probably damaging
Transcript: ENSMUST00000023171
AA Change: V217A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023171
Gene: ENSMUSG00000022528
AA Change: V217A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
HLH 40 97 6.51e-14 SMART
ORANGE 108 152 1.71e-18 SMART
low complexity region 156 204 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.2%
Validation Efficiency 100% (57/57)
MGI Phenotype 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

All alleles(7) : Targeted, knock-out(2) Targeted, other(4) Gene trapped(1)
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,373 (GRCm39) L285P probably damaging Het
Abca4 T C 3: 121,955,952 (GRCm39) I1905T probably benign Het
Abca5 A T 11: 110,200,981 (GRCm39) I473K probably benign Het
Adgrl3 CAA CA 5: 81,935,408 (GRCm39) probably null Het
Ap2a1 C A 7: 44,550,220 (GRCm39) R959L probably damaging Het
Birc6 G C 17: 74,918,126 (GRCm39) L1845F probably damaging Het
Cbs T C 17: 31,834,454 (GRCm39) I512V probably benign Het
Ccn4 C A 15: 66,791,083 (GRCm39) T295N probably benign Het
Ceacam3 T C 7: 16,897,082 (GRCm39) Y683H Het
Chd8 C T 14: 52,450,809 (GRCm39) S1426N probably damaging Het
Cog8 T C 8: 107,782,923 (GRCm39) D122G probably benign Het
Crybg1 G A 10: 43,842,376 (GRCm39) Q1772* probably null Het
Cspg4 T C 9: 56,799,964 (GRCm39) F1576S probably damaging Het
Ctse T A 1: 131,590,467 (GRCm39) V63E probably benign Het
Dnah3 G T 7: 119,525,636 (GRCm39) T3917N probably benign Het
Dst C T 1: 34,208,874 (GRCm39) T1124M possibly damaging Het
Fkbp10 A G 11: 100,306,785 (GRCm39) Q59R probably damaging Het
Fsip1 A G 2: 118,063,483 (GRCm39) S329P probably damaging Het
Ginm1 G T 10: 7,668,419 (GRCm39) S56R unknown Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm6401 T A 14: 41,787,452 (GRCm39) I125F probably damaging Het
Helz2 T C 2: 180,871,124 (GRCm39) D2815G possibly damaging Het
Hsd3b1 C T 3: 98,760,426 (GRCm39) M188I possibly damaging Het
Ighv1-75 T C 12: 115,797,876 (GRCm39) probably benign Het
Itprid2 T C 2: 79,487,614 (GRCm39) S566P probably benign Het
Kif1b T A 4: 149,275,642 (GRCm39) N1423I probably benign Het
Lmntd1 G A 6: 145,373,146 (GRCm39) T129M probably damaging Het
Lonrf2 T A 1: 38,839,854 (GRCm39) T414S probably benign Het
Lrp1b T C 2: 40,741,786 (GRCm39) D3161G Het
Lyst T C 13: 13,826,317 (GRCm39) I1608T probably benign Het
Map9 C T 3: 82,284,467 (GRCm39) P347L probably damaging Het
Mixl1 G A 1: 180,524,322 (GRCm39) Q86* probably null Het
Muc5b T C 7: 141,411,697 (GRCm39) S1548P unknown Het
Myo15b A G 11: 115,767,827 (GRCm39) K1376E Het
Nlrc5 A G 8: 95,252,753 (GRCm39) T105A unknown Het
Npepps A G 11: 97,139,026 (GRCm39) probably null Het
Nup205 T A 6: 35,204,438 (GRCm39) F1441L possibly damaging Het
Or5p69 A C 7: 107,967,234 (GRCm39) H179P probably damaging Het
Pbx4 A G 8: 70,317,093 (GRCm39) T117A probably benign Het
Phf2 T A 13: 48,976,514 (GRCm39) T234S unknown Het
Pik3r2 G A 8: 71,224,794 (GRCm39) A194V probably benign Het
Plaat1 C A 16: 29,039,106 (GRCm39) T62K probably benign Het
Plbd2 T C 5: 120,637,114 (GRCm39) D116G probably damaging Het
Plpp2 G A 10: 79,363,294 (GRCm39) A235V possibly damaging Het
Prkce G T 17: 86,866,646 (GRCm39) R502L probably damaging Het
Psrc1 C T 3: 108,293,930 (GRCm39) A249V probably damaging Het
Ptdss1 T C 13: 67,124,841 (GRCm39) C347R probably damaging Het
Serpina1b C A 12: 103,785,063 (GRCm39) probably null Het
Spcs1 C G 14: 30,722,658 (GRCm39) A113P noncoding transcript Het
Stxbp2 C T 8: 3,685,695 (GRCm39) T247M Het
Tex15 A G 8: 34,067,427 (GRCm39) T2286A possibly damaging Het
Usp45 T G 4: 21,834,274 (GRCm39) V736G probably damaging Het
Vmn2r69 A G 7: 85,060,340 (GRCm39) S415P probably benign Het
Zfp407 T C 18: 84,578,269 (GRCm39) E948G possibly damaging Het
Zfp942 A T 17: 22,147,226 (GRCm39) C468S possibly damaging Het
Zmym6 A G 4: 127,016,544 (GRCm39) E775G probably damaging Het
Zranb2 A G 3: 157,250,677 (GRCm39) R283G probably null Het
Other mutations in Hes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Hes1 APN 16 29,884,976 (GRCm39) splice site probably benign
IGL02010:Hes1 APN 16 29,886,128 (GRCm39) missense probably damaging 1.00
Crossing UTSW 16 29,884,997 (GRCm39) missense probably damaging 1.00
delaware UTSW 16 29,886,089 (GRCm39) missense probably damaging 1.00
I2289:Hes1 UTSW 16 29,884,699 (GRCm39) missense probably damaging 1.00
R0134:Hes1 UTSW 16 29,886,068 (GRCm39) missense probably damaging 0.98
R1070:Hes1 UTSW 16 29,886,101 (GRCm39) missense probably damaging 0.98
R6385:Hes1 UTSW 16 29,884,424 (GRCm39) missense possibly damaging 0.50
R6950:Hes1 UTSW 16 29,886,089 (GRCm39) missense probably damaging 1.00
R7354:Hes1 UTSW 16 29,884,746 (GRCm39) critical splice donor site probably null
R7744:Hes1 UTSW 16 29,884,997 (GRCm39) missense probably damaging 1.00
R8922:Hes1 UTSW 16 29,884,725 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGACCCAGATCAACGCCATG -3'
(R):5'- GGACTTTACGGGTAGCAGTG -3'

Sequencing Primer
(F):5'- GATCAACGCCATGACCTACC -3'
(R):5'- TCCACATGGAGTCCGAAGTG -3'
Posted On 2020-07-13