Incidental Mutation 'IGL01629:Hes1'
ID 92885
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 # IGL01629
Quality Score
Status
Chromosome 16
Chromosomal Location 29883259-29886614 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 29884976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023171]
AlphaFold P35428
Predicted Effect probably benign
Transcript: ENSMUST00000023171
SMART Domains Protein: ENSMUSP00000023171
Gene: ENSMUSG00000022528

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Adm2 T A 15: 89,207,605 (GRCm39) probably null Het
Alox12 G A 11: 70,133,660 (GRCm39) P555S probably damaging Het
Alpk2 A G 18: 65,433,113 (GRCm39) S1798P probably damaging Het
Amfr T A 8: 94,714,136 (GRCm39) probably null Het
Arhgef18 T A 8: 3,431,942 (GRCm39) C168S possibly damaging Het
Atxn7l3 A T 11: 102,183,320 (GRCm39) probably benign Het
Ccdc191 A G 16: 43,779,663 (GRCm39) K707E possibly damaging Het
Cdc5l G T 17: 45,724,116 (GRCm39) D391E probably benign Het
Cmtm2b T C 8: 105,056,420 (GRCm39) S110P possibly damaging Het
Cyp2j8 T C 4: 96,387,840 (GRCm39) D207G probably damaging Het
Ddhd2 A G 8: 26,225,855 (GRCm39) F501L possibly damaging Het
Dnaaf6rt T A 1: 31,262,014 (GRCm39) probably null Het
Dnah1 C T 14: 31,014,277 (GRCm39) V1823M probably damaging Het
Gjb4 T C 4: 127,245,419 (GRCm39) D174G possibly damaging Het
Gm45213 A G 7: 65,711,962 (GRCm39) D58G probably damaging Het
Krt33b T A 11: 99,920,386 (GRCm39) Q89L probably benign Het
Llcfc1 C A 6: 41,661,459 (GRCm39) S3Y possibly damaging Het
Ltf A G 9: 110,864,874 (GRCm39) N569S probably damaging Het
Mknk1 T A 4: 115,732,731 (GRCm39) W320R probably damaging Het
Mrgprx3-ps T A 7: 46,959,353 (GRCm39) K213* probably null Het
Mslnl T G 17: 25,963,749 (GRCm39) V388G possibly damaging Het
Nfkb1 T C 3: 135,307,228 (GRCm39) I566V probably benign Het
Npy1r G A 8: 67,156,873 (GRCm39) V98I probably benign Het
Phf1 G T 17: 27,153,247 (GRCm39) A22S probably benign Het
Plcg1 T G 2: 160,599,930 (GRCm39) F897V possibly damaging Het
Ric1 A T 19: 29,581,381 (GRCm39) E1367D probably benign Het
Slc24a3 T C 2: 145,482,130 (GRCm39) probably benign Het
Sorl1 A G 9: 41,968,565 (GRCm39) probably null Het
Speer4a2 C T 5: 26,290,700 (GRCm39) S157N probably damaging Het
Spink5 T C 18: 44,129,677 (GRCm39) probably benign Het
Syne2 A G 12: 76,051,377 (GRCm39) I4036V possibly damaging Het
Taok1 A T 11: 77,429,030 (GRCm39) M890K possibly damaging Het
Tenm2 A T 11: 36,755,711 (GRCm39) Y96N probably damaging Het
Ttll10 T A 4: 156,131,351 (GRCm39) T233S probably benign Het
Vps39 G T 2: 120,154,079 (GRCm39) L628M probably benign Het
Zfp563 G A 17: 33,323,600 (GRCm39) R105H probably damaging Het
Other mutations in Hes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09