Incidental Mutation 'IGL03387:Hes2'
ID 420918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hes2
Ensembl Gene ENSMUSG00000028940
Gene Name hes family bHLH transcription factor 2
Synonyms HES-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL03387
Quality Score
Status
Chromosome 4
Chromosomal Location 152243324-152246926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152244269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 18 (K18R)
Ref Sequence ENSEMBL: ENSMUSP00000030782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030782]
AlphaFold O54792
Predicted Effect probably damaging
Transcript: ENSMUST00000030782
AA Change: K18R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030782
Gene: ENSMUSG00000028940
AA Change: K18R

DomainStartEndE-ValueType
HLH 19 73 2.16e-10 SMART
Pfam:Hairy_orange 84 125 2.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138991
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the mammalian Hes gene family, the mammalian homologues of Drosophila hairy and Enhancer of split. Hes 2 is a basic helix-loop-helix transcriptional repressor and is an effector of the Notch signaling pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A C 13: 68,878,486 (GRCm39) I384S probably damaging Het
Atxn7 T C 14: 14,087,273 (GRCm38) probably benign Het
Blm A T 7: 80,143,895 (GRCm39) V848D probably damaging Het
Cul1 G T 6: 47,478,143 (GRCm39) L175F probably damaging Het
Cyp4a29 A G 4: 115,108,368 (GRCm39) H364R possibly damaging Het
Ddx60 A G 8: 62,465,483 (GRCm39) D1380G probably damaging Het
Det1 A T 7: 78,493,372 (GRCm39) C211S possibly damaging Het
Dnaaf9 A G 2: 130,559,200 (GRCm39) Y822H probably damaging Het
F5 A C 1: 164,020,801 (GRCm39) Q1092P probably damaging Het
Fam117b A C 1: 59,992,119 (GRCm39) Y256S probably benign Het
Fbxl13 A G 5: 21,728,796 (GRCm39) probably null Het
Galnt7 A G 8: 57,979,212 (GRCm39) I637T probably benign Het
H2-T24 T A 17: 36,317,671 (GRCm39) K120N unknown Het
Icam5 A T 9: 20,945,097 (GRCm39) Q220L probably benign Het
Kdm8 G A 7: 125,054,278 (GRCm39) A170T probably benign Het
Krt40 G A 11: 99,430,711 (GRCm39) A321V probably damaging Het
Mapkbp1 T A 2: 119,828,979 (GRCm39) V45D probably damaging Het
Mbip A G 12: 56,382,597 (GRCm39) Y290H probably damaging Het
Mical1 A G 10: 41,354,195 (GRCm39) Y48C probably damaging Het
Mslnl T C 17: 25,963,051 (GRCm39) S300P probably benign Het
Nanog T C 6: 122,688,731 (GRCm39) L104P probably damaging Het
Or10ak11 T C 4: 118,687,238 (GRCm39) Y132C probably damaging Het
Or4c113 A T 2: 88,885,457 (GRCm39) H104Q probably damaging Het
Or4f60 T A 2: 111,902,007 (GRCm39) Y307F probably benign Het
Or52n2c A T 7: 104,574,580 (GRCm39) N130K probably benign Het
Oxgr1 C A 14: 120,260,199 (GRCm39) E3* probably null Het
Pam16 A T 16: 4,434,671 (GRCm39) probably benign Het
Plcb1 A T 2: 134,655,606 (GRCm39) probably benign Het
Slc25a32 A T 15: 38,969,359 (GRCm39) V58E probably benign Het
Slc2a12 G T 10: 22,541,134 (GRCm39) V330F probably damaging Het
Slit1 T C 19: 41,591,881 (GRCm39) E1247G possibly damaging Het
Supt5 A T 7: 28,019,508 (GRCm39) C519S possibly damaging Het
Szt2 A G 4: 118,221,922 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,180 (GRCm39) W294R possibly damaging Het
Tex21 A T 12: 76,245,694 (GRCm39) M534K probably damaging Het
Tmem132c T C 5: 127,640,784 (GRCm39) I985T probably benign Het
Tmem87b T C 2: 128,665,019 (GRCm39) V61A probably benign Het
Trhr2 G A 8: 123,085,220 (GRCm39) probably benign Het
Ttc28 A G 5: 111,381,208 (GRCm39) D1209G probably benign Het
Uchl5 A G 1: 143,677,940 (GRCm39) E148G probably benign Het
Wdr62 T C 7: 29,970,199 (GRCm39) I203V possibly damaging Het
Wnk1 T C 6: 119,931,148 (GRCm39) I799V possibly damaging Het
Other mutations in Hes2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Hes2 APN 4 152,244,982 (GRCm39) missense probably damaging 0.98
R4618:Hes2 UTSW 4 152,244,845 (GRCm39) missense probably benign 0.01
R5049:Hes2 UTSW 4 152,244,331 (GRCm39) missense possibly damaging 0.95
R5527:Hes2 UTSW 4 152,244,849 (GRCm39) missense probably benign 0.04
R6722:Hes2 UTSW 4 152,244,834 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02