Incidental Mutation 'R4459:Hes6'
ID 330044
Institutional Source Beutler Lab
Gene Symbol Hes6
Ensembl Gene ENSMUSG00000067071
Gene Name hairy and enhancer of split 6
Synonyms bHLHb41
MMRRC Submission 041579-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R4459 (G1)
Quality Score 165
Status Not validated
Chromosome 1
Chromosomal Location 91339205-91341760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91340061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 132 (S132P)
Ref Sequence ENSEMBL: ENSMUSP00000084062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069620] [ENSMUST00000086851]
AlphaFold Q9JHE6
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000086851
AA Change: S132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084062
Gene: ENSMUSG00000067071
AA Change: S132P

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
Meta Mutation Damage Score 0.5268 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,836,805 (GRCm39) R652Q probably benign Het
Anks1b G A 10: 90,346,706 (GRCm39) V669I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
BC049715 G A 6: 136,817,050 (GRCm39) A97T probably damaging Het
Cyp11b1 T A 15: 74,708,208 (GRCm39) E422D probably damaging Het
Dmxl1 A T 18: 50,094,283 (GRCm39) I2920F possibly damaging Het
Dnaaf6rt A G 1: 31,262,405 (GRCm39) D129G probably damaging Het
Efcab6 C T 15: 83,788,490 (GRCm39) G935S probably damaging Het
Esp3 C G 17: 40,944,478 (GRCm39) T40S probably null Het
Gc T C 5: 89,589,146 (GRCm39) M206V probably benign Het
Gm15446 A T 5: 110,091,107 (GRCm39) H453L probably benign Het
Ighg2b T C 12: 113,270,578 (GRCm39) Y184C unknown Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kcnj5 A G 9: 32,233,691 (GRCm39) I208T probably damaging Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrfn4 C T 19: 4,662,662 (GRCm39) V452I probably benign Het
Mypn A G 10: 63,028,211 (GRCm39) V284A probably damaging Het
Or14j9 G A 17: 37,874,365 (GRCm39) T279I probably damaging Het
Or2y1e A T 11: 49,218,703 (GRCm39) N155I probably damaging Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
Or8c20 T A 9: 38,261,288 (GRCm39) V297D probably damaging Het
Pcdhgb6 C T 18: 37,875,759 (GRCm39) P156S probably benign Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prl7a2 A G 13: 27,849,979 (GRCm39) V31A probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rmnd5a C T 6: 71,373,865 (GRCm39) G310R probably damaging Het
Rrm2b T A 15: 37,945,397 (GRCm39) probably null Het
Smg8 T C 11: 86,976,396 (GRCm39) D395G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tyk2 T C 9: 21,035,711 (GRCm39) E157G probably damaging Het
Wdr90 T A 17: 26,079,976 (GRCm39) T120S possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging 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
R2411:Hes6 UTSW 1 91,340,986 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- GATCTCCTCTAGGTCAGAACAC -3'
(R):5'- TATCCATGGCAAGGGCTTC -3'

Sequencing Primer
(F):5'- TCTAGGTCAGAACACAGGTCGTC -3'
(R):5'- CGATAGTCACTGCTCACGG -3'
Posted On 2015-07-21