Incidental Mutation 'R7721:Hes7'
ID 595235
Institutional Source Beutler Lab
Gene Symbol Hes7
Ensembl Gene ENSMUSG00000023781
Gene Name hes family bHLH transcription factor 7
Synonyms bHLHb37
MMRRC Submission 045777-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.750) question?
Stock # R7721 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69011230-69014881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69012352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 9 (T9S)
Ref Sequence ENSEMBL: ENSMUSP00000137894 (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 damaging
Transcript: ENSMUST00000024543
AA Change: V20E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024543
Gene: ENSMUSG00000023781
AA Change: V20E

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 unknown
Transcript: ENSMUST00000180487
AA Change: T9S
SMART Domains Protein: ENSMUSP00000137894
Gene: ENSMUSG00000097386
AA Change: T9S

DomainStartEndE-ValueType
low complexity region 31 40 N/A INTRINSIC
transmembrane domain 87 109 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,784,929 (GRCm39) probably null Het
Adamtsl3 T G 7: 82,255,728 (GRCm39) M1580R possibly damaging Het
Alg9 T C 9: 50,687,942 (GRCm39) I78T probably damaging Het
Ankmy2 G T 12: 36,207,143 (GRCm39) probably benign Het
Ankrd11 G T 8: 123,621,498 (GRCm39) L785M probably damaging Het
Atrnl1 T A 19: 57,684,763 (GRCm39) D796E probably benign Het
C1s2 A G 6: 124,607,017 (GRCm39) V277A possibly damaging Het
Ccdc121rt3 A G 5: 112,503,383 (GRCm39) I107T probably benign Het
Cldn15 A G 5: 136,997,015 (GRCm39) M19V probably benign Het
Cldn23 T G 8: 36,293,417 (GRCm39) S24R possibly damaging Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Csf2ra A T 19: 61,215,024 (GRCm39) W147R probably damaging Het
Ctsb G T 14: 63,370,765 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,088,874 (GRCm39) M34T probably benign Het
Dmtf1 T C 5: 9,176,564 (GRCm39) I463V probably damaging Het
Dnah7a T A 1: 53,670,842 (GRCm39) D470V probably benign Het
Dtx4 A G 19: 12,459,500 (GRCm39) S435P probably benign Het
Ear2 T A 14: 44,340,495 (GRCm39) M51K probably damaging Het
Efcab3 T A 11: 104,615,366 (GRCm39) L711* probably null Het
Elmo1 T A 13: 20,464,973 (GRCm39) probably null Het
Faf1 T A 4: 109,593,794 (GRCm39) I124N probably damaging Het
Gkap1 A C 13: 58,384,799 (GRCm39) probably null Het
Glipr2 T C 4: 43,957,770 (GRCm39) S4P probably benign Het
Gm38119 A T 3: 92,645,337 (GRCm39) C86S unknown Het
Gpr171 T G 3: 59,005,320 (GRCm39) I152L probably benign Het
Homer3 T C 8: 70,743,662 (GRCm39) V180A probably benign Het
Irx1 T A 13: 72,108,176 (GRCm39) M169L probably benign Het
Kap A G 6: 133,828,690 (GRCm39) probably null Het
Mgat5b A G 11: 116,857,627 (GRCm39) M2V Het
Mob4 C T 1: 55,187,479 (GRCm39) Q76* probably null Het
Or10w3 T A 19: 13,704,207 (GRCm39) I194N possibly damaging Het
Or8b47 A T 9: 38,435,013 (GRCm39) probably null Het
Or8g26 A G 9: 39,096,056 (GRCm39) D191G probably benign Het
Pate14 C T 9: 36,549,159 (GRCm39) G34R possibly damaging Het
Pcdha9 A T 18: 37,132,689 (GRCm39) Q586L probably benign Het
Pgk2 T A 17: 40,518,409 (GRCm39) I340F probably benign Het
Prex1 G A 2: 166,419,810 (GRCm39) Q1289* probably null Het
Prr22 A G 17: 57,078,819 (GRCm39) D324G possibly damaging Het
Rab2b A T 14: 52,501,217 (GRCm39) S201T probably benign Het
Rdh1 T A 10: 127,596,121 (GRCm39) probably null Het
Rhbdl1 G T 17: 26,055,123 (GRCm39) N82K probably benign Het
Rspo1 C A 4: 124,885,210 (GRCm39) Q29K possibly damaging Het
Rtp3 A T 9: 110,814,948 (GRCm39) Y472* probably null Het
Senp5 T A 16: 31,809,252 (GRCm39) M1L unknown Het
Slfn4 A T 11: 83,078,389 (GRCm39) probably null Het
Stab1 A G 14: 30,863,413 (GRCm39) V2091A possibly damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tpr A G 1: 150,320,180 (GRCm39) T2243A probably benign Het
Tubgcp6 A T 15: 88,985,604 (GRCm39) N1544K probably damaging Het
Uqcc1 T C 2: 155,700,066 (GRCm39) N202S probably benign Het
Vmn2r18 C T 5: 151,510,158 (GRCm39) E72K possibly damaging Het
Zfp654 C A 16: 64,606,570 (GRCm39) C3F probably damaging Het
Zfp804b T C 5: 6,821,263 (GRCm39) E600G 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
R8031:Hes7 UTSW 11 69,013,591 (GRCm39) missense probably damaging 1.00
R9025:Hes7 UTSW 11 69,013,782 (GRCm39) missense probably benign
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 PCR Primer
(F):5'- AGAGTGGCCCTAAAGTTCTTCAG -3'
(R):5'- TTTCAAGGAGCAGGCTTGGG -3'

Sequencing Primer
(F):5'- GGCCCTAAAGTTCTTCAGTGATACAC -3'
(R):5'- TTGGGTCCAGAGTCACCAC -3'
Posted On 2019-11-12