Incidental Mutation 'R2411:Hes6'
ID 266166
Institutional Source Beutler Lab
Gene Symbol Hes6
Ensembl Gene ENSMUSG00000067071
Gene Name hairy and enhancer of split 6
Synonyms bHLHb41
MMRRC Submission 040376-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R2411 (G1)
Quality Score 106
Status Not validated
Chromosome 1
Chromosomal Location 91339205-91341760 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 91340986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069620] [ENSMUST00000086851]
AlphaFold Q9JHE6
Predicted Effect probably null
Transcript: ENSMUST00000069620
SMART Domains Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866

DomainStartEndE-ValueType
PAS 179 246 3.23e1 SMART
PAS 319 385 5.75e-2 SMART
PAC 393 436 1.6e0 SMART
low complexity region 475 488 N/A INTRINSIC
low complexity region 821 834 N/A INTRINSIC
low complexity region 996 1014 N/A INTRINSIC
Pfam:Period_C 1040 1234 2.7e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000086851
SMART Domains Protein: ENSMUSP00000084062
Gene: ENSMUSG00000067071

DomainStartEndE-ValueType
HLH 31 84 4.07e-6 SMART
Pfam:Hairy_orange 95 134 1.8e-13 PFAM
low complexity region 151 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155752
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4933402D24Rik A G 1: 63,795,373 (GRCm39) probably benign Het
9030612E09Rik G T 10: 43,050,796 (GRCm39) R30L possibly damaging Het
Aadacl2 A G 3: 59,924,844 (GRCm39) D137G possibly damaging Het
Acad11 T G 9: 103,963,222 (GRCm39) probably benign Het
Acap1 A T 11: 69,776,311 (GRCm39) N229K probably damaging Het
Agbl1 A G 7: 76,369,898 (GRCm39) T666A probably damaging Het
Btbd16 T C 7: 130,391,954 (GRCm39) F160L probably damaging Het
Clock A C 5: 76,379,360 (GRCm39) H525Q probably benign Het
Col6a1 G T 10: 76,546,922 (GRCm39) Q767K unknown Het
Creld1 A G 6: 113,466,737 (GRCm39) H240R probably benign Het
Dlg4 G A 11: 69,932,755 (GRCm39) probably null Het
Fam204a A T 19: 60,187,870 (GRCm39) *237R probably null Het
Filip1 T A 9: 79,805,715 (GRCm39) N13I probably damaging Het
Gm14295 G T 2: 176,499,206 (GRCm39) A19S probably benign Het
Hddc3 A T 7: 79,993,341 (GRCm39) Q56L probably damaging Het
Hormad1 A G 3: 95,487,326 (GRCm39) D270G probably benign Het
Ifitm1 A G 7: 140,549,711 (GRCm39) probably null Het
Igbp1b A C 6: 138,634,871 (GRCm39) V191G probably damaging Het
Impg2 T A 16: 56,072,517 (GRCm39) N316K probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lilra6 T C 7: 3,914,453 (GRCm39) Y566C probably damaging Het
Map4k4 A G 1: 40,046,656 (GRCm39) D775G probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Mybpc2 G A 7: 44,155,662 (GRCm39) R864W probably damaging Het
Nckap1l C A 15: 103,391,995 (GRCm39) P810Q probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or14c44 T C 7: 86,062,290 (GRCm39) V281A possibly damaging Het
Or1ad1 A G 11: 50,875,758 (GRCm39) T77A probably damaging Het
Or4a27 C T 2: 88,559,741 (GRCm39) M67I probably benign Het
Ppp2r3c T C 12: 55,345,269 (GRCm39) K73R probably benign Het
Ptpru A T 4: 131,498,780 (GRCm39) F1311Y probably damaging Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Setd2 A G 9: 110,379,497 (GRCm39) E1104G possibly damaging Het
St14 G A 9: 31,019,530 (GRCm39) T97I probably benign Het
Stag3 A G 5: 138,281,290 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tor1b G T 2: 30,845,824 (GRCm39) S167I probably damaging Het
Ttn T A 2: 76,568,359 (GRCm39) E27511D probably damaging Het
Uso1 T A 5: 92,306,258 (GRCm39) probably benign Het
Vmn1r10 G T 6: 57,091,124 (GRCm39) V239F probably benign Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zfp160 C T 17: 21,246,007 (GRCm39) R186C possibly damaging Het
Zfp869 A G 8: 70,159,179 (GRCm39) C465R probably damaging Het
Zfp957 T C 14: 79,451,782 (GRCm39) K6E unknown Het
Other mutations in Hes6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0266:Hes6 UTSW 1 91,340,026 (GRCm39) missense possibly damaging 0.57
R1563:Hes6 UTSW 1 91,340,858 (GRCm39) start codon destroyed probably null 1.00
R4459:Hes6 UTSW 1 91,340,061 (GRCm39) missense probably damaging 1.00
R5769:Hes6 UTSW 1 91,340,671 (GRCm39) missense probably damaging 1.00
R6979:Hes6 UTSW 1 91,340,810 (GRCm39) missense possibly damaging 0.79
R9061:Hes6 UTSW 1 91,340,061 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-05