Incidental Mutation 'R9025:Hes7'
ID 686495
Institutional Source Beutler Lab
Gene Symbol Hes7
Ensembl Gene ENSMUSG00000023781
Gene Name hes family bHLH transcription factor 7
Synonyms bHLHb37
MMRRC Submission 068854-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R9025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69011230-69014881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69013782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 214 (S214P)
Ref Sequence ENSEMBL: ENSMUSP00000024543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021268] [ENSMUST00000024543] [ENSMUST00000175661] [ENSMUST00000180487]
AlphaFold Q8BKT2
Predicted Effect probably benign
Transcript: ENSMUST00000021268
SMART Domains Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892

DomainStartEndE-ValueType
LH2 2 116 1.93e-20 SMART
Pfam:Lipoxygenase 249 697 3.4e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024543
AA Change: S214P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024543
Gene: ENSMUSG00000023781
AA Change: S214P

DomainStartEndE-ValueType
HLH 18 75 2.01e-5 SMART
low complexity region 137 152 N/A INTRINSIC
low complexity region 188 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175661
SMART Domains Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892

DomainStartEndE-ValueType
LH2 2 116 1.93e-20 SMART
Pfam:Lipoxygenase 245 377 7.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180487
SMART Domains Protein: ENSMUSP00000137894
Gene: ENSMUSG00000097386

DomainStartEndE-ValueType
low complexity region 31 40 N/A INTRINSIC
transmembrane domain 87 109 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted somite formation leading to skeletal defects including short trunk and tail, reduced numbers of ribs, and deformed and fused vertebrae, and neonatal death. Some heterozygotes have tail kinks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,534,545 (GRCm39) N837K possibly damaging Het
Adam29 A T 8: 56,325,196 (GRCm39) C419* probably null Het
Adamts7 C A 9: 90,067,848 (GRCm39) S446* probably null Het
Ager A G 17: 34,819,594 (GRCm39) R371G probably damaging Het
Apobr T A 7: 126,185,629 (GRCm39) V380E possibly damaging Het
Arhgap26 T C 18: 39,379,898 (GRCm39) S105P Het
Atrip A G 9: 108,902,906 (GRCm39) F56S probably damaging Het
Bag2 T C 1: 33,785,905 (GRCm39) Y139C Het
Bccip C T 7: 133,319,346 (GRCm39) Q146* probably null Het
Btbd10 G A 7: 112,951,031 (GRCm39) R20W possibly damaging Het
Catsperd T A 17: 56,962,156 (GRCm39) N443K probably damaging Het
Cdh26 G A 2: 178,104,409 (GRCm39) E265K probably benign Het
Cep76 T C 18: 67,767,885 (GRCm39) R216G probably damaging Het
Cgas C A 9: 78,349,787 (GRCm39) V192L probably benign Het
Cnot1 T A 8: 96,475,660 (GRCm39) M1000L probably benign Het
Cyp1a1 A G 9: 57,610,070 (GRCm39) T495A possibly damaging Het
Cyp2w1 T A 5: 139,342,470 (GRCm39) M421K probably benign Het
Dlg5 T C 14: 24,199,546 (GRCm39) T1453A probably benign Het
Dnah5 G T 15: 28,409,412 (GRCm39) W3610L probably damaging Het
Dnah9 T C 11: 65,896,651 (GRCm39) D2391G probably damaging Het
Dnajc10 G A 2: 80,179,637 (GRCm39) G724R probably damaging Het
Dst T A 1: 34,227,585 (GRCm39) I1726N possibly damaging Het
Dync2h1 A T 9: 7,139,462 (GRCm39) L1391* probably null Het
Dzank1 T C 2: 144,318,012 (GRCm39) S718G probably benign Het
E230025N22Rik T C 18: 36,819,890 (GRCm39) D300G probably damaging Het
Ebf3 T C 7: 136,914,098 (GRCm39) I131V possibly damaging Het
Eif3g T C 9: 20,807,426 (GRCm39) I131V probably benign Het
Eppk1 T A 15: 75,990,503 (GRCm39) Q2126L possibly damaging Het
Fam83h T C 15: 75,874,182 (GRCm39) R1052G probably benign Het
Fry A T 5: 150,219,273 (GRCm39) probably benign Het
Ggt6 C T 11: 72,328,123 (GRCm39) H208Y possibly damaging Het
Gm15821 T A 17: 34,433,235 (GRCm39) E28V unknown Het
Gprin2 T C 14: 33,916,957 (GRCm39) Q271R probably damaging Het
Gsdmd T C 15: 75,739,053 (GRCm39) F477L probably benign Het
Hmcn2 A G 2: 31,347,967 (GRCm39) H4871R possibly damaging Het
Il15ra G A 2: 11,723,233 (GRCm39) V86I possibly damaging Het
Il17rb C A 14: 29,724,857 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnab2 T C 4: 152,491,635 (GRCm39) Y63C probably damaging Het
Kctd17 A T 15: 78,314,282 (GRCm39) Y84F probably damaging Het
Lama1 T A 17: 68,119,491 (GRCm39) V2656E Het
Lama2 T C 10: 26,860,367 (GRCm39) N3040S probably benign Het
Ldha C T 7: 46,500,433 (GRCm39) R173C unknown Het
Lig1 A G 7: 13,037,746 (GRCm39) I665M probably damaging Het
Lipe G A 7: 25,083,923 (GRCm39) A412V probably damaging Het
Lrrc63 T C 14: 75,322,284 (GRCm39) T607A probably benign Het
Majin G A 19: 6,263,427 (GRCm39) probably null Het
Map3k19 A G 1: 127,758,175 (GRCm39) L335P probably benign Het
Map3k9 A G 12: 81,819,507 (GRCm39) L249P probably damaging Het
Muc5b G T 7: 141,426,209 (GRCm39) D4769Y probably damaging Het
Myh9 T C 15: 77,653,192 (GRCm39) T1382A probably benign Het
Nedd4l T A 18: 65,311,995 (GRCm39) D407E probably damaging Het
Ngp A G 9: 110,251,451 (GRCm39) I160V possibly damaging Het
Nmrk1 A G 19: 18,617,156 (GRCm39) probably benign Het
Nnmt C A 9: 48,503,461 (GRCm39) K188N probably damaging Het
Nup153 T A 13: 46,837,709 (GRCm39) Q1171L probably benign Het
Oplah T A 15: 76,187,417 (GRCm39) E556V probably benign Het
Or9g3 T G 2: 85,589,879 (GRCm39) L280F possibly damaging Het
Otog A G 7: 45,937,520 (GRCm39) D1743G probably benign Het
Otogl T C 10: 107,613,432 (GRCm39) Y2011C probably damaging Het
Pbx4 C T 8: 70,317,097 (GRCm39) P118L probably benign Het
Plekha6 T A 1: 133,212,999 (GRCm39) S757T probably benign Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Polr3a C T 14: 24,519,479 (GRCm39) S643N probably damaging Het
Pwp1 T A 10: 85,718,745 (GRCm39) L304Q probably damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rab11fip1 A G 8: 27,644,736 (GRCm39) F350L probably benign Het
Safb2 T C 17: 56,873,614 (GRCm39) E683G probably damaging Het
Scarb1 A T 5: 125,381,414 (GRCm39) N43K probably damaging Het
Serpina3k A G 12: 104,307,230 (GRCm39) E154G probably damaging Het
Sgsm3 T A 15: 80,892,182 (GRCm39) V250D probably damaging Het
Slit1 T A 19: 41,612,968 (GRCm39) I851F probably benign Het
Spag4 G A 2: 155,910,424 (GRCm39) G350E probably damaging Het
Sult2a7 A T 7: 14,225,755 (GRCm39) L77Q probably damaging Het
Tbc1d2 T A 4: 46,607,062 (GRCm39) T783S probably damaging Het
Thoc6 T C 17: 23,888,862 (GRCm39) E182G Het
Tmem132a A T 19: 10,837,525 (GRCm39) I595N probably damaging Het
Trim69 A G 2: 122,003,771 (GRCm39) N240S probably benign Het
Ush1c A T 7: 45,846,614 (GRCm39) probably benign Het
Wnk4 T G 11: 101,153,641 (GRCm39) Y234* probably null Het
Zfp943 A G 17: 22,211,321 (GRCm39) N136D possibly damaging Het
Znhit2 G A 19: 6,111,669 (GRCm39) R138H possibly damaging Het
Other mutations in Hes7
AlleleSourceChrCoordTypePredicted EffectPPH Score
entrapped UTSW 11 69,012,352 (GRCm39) missense unknown
R5719:Hes7 UTSW 11 69,012,415 (GRCm39) missense probably damaging 0.99
R7721:Hes7 UTSW 11 69,012,352 (GRCm39) missense unknown
R8031:Hes7 UTSW 11 69,013,591 (GRCm39) missense probably damaging 1.00
R9502:Hes7 UTSW 11 69,013,711 (GRCm39) missense probably benign 0.12
Z1186:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1187:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1188:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1189:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1190:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1191:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Z1192:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
Predicted Primers
Posted On 2021-10-11