Incidental Mutation 'R6979:Hes6'
ID 542594
Institutional Source Beutler Lab
Gene Symbol Hes6
Ensembl Gene ENSMUSG00000067071
Gene Name hairy and enhancer of split 6
Synonyms bHLHb41
MMRRC Submission 045087-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R6979 (G1)
Quality Score 199.009
Status Validated
Chromosome 1
Chromosomal Location 91339205-91341760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91340810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 17 (E17G)
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 possibly damaging
Transcript: ENSMUST00000086851
AA Change: E17G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084062
Gene: ENSMUSG00000067071
AA Change: E17G

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
Meta Mutation Damage Score 0.1285 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,947,424 (GRCm39) T374M probably benign Het
Aspg A G 12: 112,087,378 (GRCm39) D278G possibly damaging Het
Aspm C A 1: 139,408,223 (GRCm39) A2370E probably damaging Het
Ccnt2 T C 1: 127,702,873 (GRCm39) M65T probably damaging Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Cpne3 G A 4: 19,533,098 (GRCm39) T279I probably benign Het
Ctdspl G A 9: 118,869,598 (GRCm39) V227M probably damaging Het
Ctnnd2 A G 15: 30,619,376 (GRCm39) E99G probably damaging Het
Dapk1 T C 13: 60,896,095 (GRCm39) S728P probably damaging Het
Dmxl2 A G 9: 54,358,163 (GRCm39) I512T possibly damaging Het
Dop1a A T 9: 86,403,695 (GRCm39) T1630S possibly damaging Het
Dqx1 A G 6: 83,037,992 (GRCm39) D460G probably damaging Het
Foxg1 T C 12: 49,431,567 (GRCm39) probably benign Het
H2-Q2 T A 17: 35,564,623 (GRCm39) probably null Het
Ighv1-42 T C 12: 114,900,848 (GRCm39) Y79C possibly damaging Het
Itfg2 T C 6: 128,388,554 (GRCm39) D311G probably damaging Het
Itgb5 T A 16: 33,740,356 (GRCm39) C489S probably damaging Het
Map4k5 A T 12: 69,869,622 (GRCm39) C488S probably damaging Het
Mark1 C T 1: 184,644,825 (GRCm39) G377D possibly damaging Het
Mat2a A G 6: 72,412,096 (GRCm39) V318A probably damaging Het
Mpp7 T G 18: 7,355,049 (GRCm39) N459T possibly damaging Het
Mrc2 C A 11: 105,239,461 (GRCm39) N1348K probably damaging Het
Mroh5 T C 15: 73,664,978 (GRCm39) K264R probably benign Het
Mtor A G 4: 148,608,930 (GRCm39) M1529V possibly damaging Het
Mtrr C T 13: 68,718,122 (GRCm39) probably null Het
Nwd1 C T 8: 73,394,288 (GRCm39) P517L probably damaging Het
Or4a27 T A 2: 88,559,528 (GRCm39) R138S probably benign Het
Or8h10 A G 2: 86,808,577 (GRCm39) S188P probably damaging Het
Polr1c A G 17: 46,557,095 (GRCm39) F63L probably damaging Het
Polrmt C T 10: 79,582,400 (GRCm39) probably null Het
Pomt2 T C 12: 87,177,125 (GRCm39) I287M probably damaging Het
Prkar2a T A 9: 108,610,342 (GRCm39) N190K possibly damaging Het
Prl3d3 T A 13: 27,341,545 (GRCm39) Y59N possibly damaging Het
Prl5a1 T A 13: 28,335,189 (GRCm39) F199L probably benign Het
Prpf38b A G 3: 108,818,640 (GRCm39) V40A probably benign Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptgs1 A G 2: 36,141,311 (GRCm39) D586G probably benign Het
Slx4 T C 16: 3,802,879 (GRCm39) K1312E probably damaging Het
Smok3c A G 5: 138,062,987 (GRCm39) D158G probably benign Het
Spen A T 4: 141,205,374 (GRCm39) D1084E unknown Het
Tcp11l1 C T 2: 104,536,784 (GRCm39) G27D probably benign Het
Tep1 A G 14: 51,076,094 (GRCm39) S1679P possibly damaging Het
Tmem259 C T 10: 79,814,391 (GRCm39) V322I possibly damaging Het
Tmpo A T 10: 90,988,359 (GRCm39) probably null Het
Ttn C A 2: 76,555,137 (GRCm39) A30623S probably damaging Het
Ube2l3 G A 16: 16,977,841 (GRCm39) probably benign Het
Unkl A G 17: 25,418,890 (GRCm39) D146G probably damaging Het
Vmn1r51 A T 6: 90,106,186 (GRCm39) H34L possibly damaging Het
Vmn2r17 A G 5: 109,576,265 (GRCm39) T379A possibly damaging Het
Zfp35 G T 18: 24,136,927 (GRCm39) G424C probably benign Het
Zfp420 T A 7: 29,575,446 (GRCm39) H555Q 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
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
R9061:Hes6 UTSW 1 91,340,061 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCTGAAGACTCTCGTTGATC -3'
(R):5'- TCTCATTGGCTACAGGCTGC -3'

Sequencing Primer
(F):5'- GAAGACTCTCGTTGATCCGTGC -3'
(R):5'- CCAATCGGTGCATTGACATG -3'
Posted On 2018-11-28