Incidental Mutation 'IGL02010:Hes1'
ID183310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hes1
Ensembl Gene ENSMUSG00000022528
Gene Namehes family bHLH transcription factor 1
SynonymsHry, bHLHb39
Accession Numbers

Genbank: NM_008235.2

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02010
Quality Score
Status
Chromosome16
Chromosomal Location30064384-30067796 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30067310 bp
ZygosityHeterozygous
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]
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
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M probably benign Het
Other mutations in Hes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Hes1 APN 16 30066158 splice site probably benign
I2289:Hes1 UTSW 16 30065881 missense probably damaging 1.00
R0134:Hes1 UTSW 16 30067250 missense probably damaging 0.98
R1070:Hes1 UTSW 16 30067283 missense probably damaging 0.98
R6385:Hes1 UTSW 16 30065606 missense possibly damaging 0.50
R6950:Hes1 UTSW 16 30067271 missense probably damaging 1.00
R7354:Hes1 UTSW 16 30065928 critical splice donor site probably null
R7744:Hes1 UTSW 16 30066179 missense probably damaging 1.00
Posted On2014-05-07