Incidental Mutation 'IGL02010:Hes1'
ID 183310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hes1
Ensembl Gene ENSMUSG00000022528
Gene Name hes family bHLH transcription factor 1
Synonyms Hry, bHLHb39
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02010
Quality Score
Status
Chromosome 16
Chromosomal Location 29883259-29886614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29886128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 244 (G244D)
Ref Sequence ENSEMBL: ENSMUSP00000023171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023171]
AlphaFold P35428
Predicted Effect probably damaging
Transcript: ENSMUST00000023171
AA Change: G244D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023171
Gene: ENSMUSG00000022528
AA Change: G244D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161839
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,110,442 (GRCm39) D569G probably benign Het
Abhd17b C T 19: 21,661,485 (GRCm39) T224I probably benign Het
Atf6b T A 17: 34,873,626 (GRCm39) S695R probably benign Het
Cdh6 A C 15: 13,034,276 (GRCm39) probably benign Het
Cep290 G T 10: 100,344,569 (GRCm39) C462F probably benign Het
Cep290 T C 10: 100,397,207 (GRCm39) S2156P probably benign Het
Cfap20dc A T 14: 8,578,384 (GRCm38) H119Q possibly damaging Het
Cit T C 5: 116,014,006 (GRCm39) F240L probably damaging Het
Col1a2 T A 6: 4,512,416 (GRCm39) probably null Het
Ctcf T A 8: 106,391,597 (GRCm39) H297Q probably damaging Het
Dhx29 T C 13: 113,103,168 (GRCm39) probably null Het
Dhx37 T G 5: 125,495,777 (GRCm39) T835P possibly damaging Het
Enc1 C T 13: 97,381,588 (GRCm39) L33F possibly damaging Het
Epyc T A 10: 97,485,563 (GRCm39) M1K probably null Het
F10 T C 8: 13,098,292 (GRCm39) I165T probably damaging Het
Fam124a T C 14: 62,824,728 (GRCm39) L74P probably damaging Het
Fam234b A G 6: 135,186,405 (GRCm39) S138G probably benign Het
Fam81a T C 9: 70,006,419 (GRCm39) K198E probably benign Het
Fbn2 T C 18: 58,170,794 (GRCm39) Y2199C probably damaging Het
Fign A C 2: 63,810,744 (GRCm39) S175R probably damaging Het
Grik1 T C 16: 87,848,396 (GRCm39) N124S possibly damaging Het
Hdac9 G T 12: 34,481,944 (GRCm39) L175M probably damaging Het
Hephl1 A C 9: 15,001,852 (GRCm39) Y163* probably null Het
Hexb A G 13: 97,313,353 (GRCm39) L501P probably benign Het
Igkv5-43 T C 6: 69,752,936 (GRCm39) I49V probably benign Het
Ipo5 T C 14: 121,170,789 (GRCm39) S491P probably benign Het
Jakmip2 C T 18: 43,692,158 (GRCm39) probably null Het
Lrfn5 A G 12: 61,886,469 (GRCm39) T86A probably damaging Het
Lrp1b T C 2: 41,358,954 (GRCm39) T640A probably damaging Het
M6pr G T 6: 122,292,085 (GRCm39) R139L possibly damaging Het
Myl9 A T 2: 156,620,579 (GRCm39) N39Y probably damaging Het
Nlrp3 A G 11: 59,440,361 (GRCm39) D646G probably benign Het
Nlrp5 A T 7: 23,116,797 (GRCm39) M174L probably benign Het
Nnmt T A 9: 48,503,331 (GRCm39) I232F probably damaging Het
Nrg1 T C 8: 32,408,171 (GRCm39) T21A probably benign Het
Or5t15 C T 2: 86,681,541 (GRCm39) C167Y possibly damaging Het
Or6c65 A G 10: 129,604,136 (GRCm39) Y257C probably benign Het
Pcare T A 17: 72,056,459 (GRCm39) T1073S probably benign Het
Pcdh7 T G 5: 58,286,597 (GRCm39) N1224K probably benign Het
Pde4a T C 9: 21,114,850 (GRCm39) probably null Het
Pfkfb3 T C 2: 11,488,805 (GRCm39) T320A probably benign Het
Plekhm2 T C 4: 141,364,730 (GRCm39) probably benign Het
Rabgap1l C T 1: 160,299,641 (GRCm39) R584H probably damaging Het
Rnf157 T A 11: 116,287,052 (GRCm39) N57I probably damaging Het
Rtf1 G A 2: 119,531,747 (GRCm39) probably null Het
Sap130 C A 18: 31,782,655 (GRCm39) R189S probably damaging Het
Slc34a1 T G 13: 24,003,025 (GRCm39) V225G probably benign Het
Smg1 T C 7: 117,785,369 (GRCm39) probably benign Het
Tecta G A 9: 42,248,489 (GRCm39) T1971I probably damaging Het
Tlcd5 A T 9: 43,022,859 (GRCm39) V165E probably damaging Het
Tmem263 T A 10: 84,950,274 (GRCm39) S22T probably benign Het
Tnrc18 A T 5: 142,773,049 (GRCm39) F410L unknown Het
Ttc27 T G 17: 75,087,906 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,668 (GRCm39) C101S probably damaging Het
Wdr17 T C 8: 55,112,738 (GRCm39) K781E probably damaging Het
Xkr6 C T 14: 64,056,653 (GRCm39) T188M probably benign Het
Other mutations in Hes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Hes1 APN 16 29,884,976 (GRCm39) splice site probably benign
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
R8237:Hes1 UTSW 16 29,886,047 (GRCm39) missense probably damaging 0.96
R8922:Hes1 UTSW 16 29,884,725 (GRCm39) nonsense probably null
Posted On 2014-05-07