Incidental Mutation 'R1559:Heyl'
ID 170482
Institutional Source Beutler Lab
Gene Symbol Heyl
Ensembl Gene ENSMUSG00000032744
Gene Name hairy/enhancer-of-split related with YRPW motif-like
Synonyms Hesr3, Hey3, Hrt3, bHLHb33
MMRRC Submission 039598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1559 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 123127349-123143663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123135192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 62 (S62G)
Ref Sequence ENSEMBL: ENSMUSP00000040576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040821]
AlphaFold Q9DBX7
Predicted Effect probably damaging
Transcript: ENSMUST00000040821
AA Change: S62G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040576
Gene: ENSMUSG00000032744
AA Change: S62G

DomainStartEndE-ValueType
HLH 49 104 8.72e-15 SMART
ORANGE 114 162 1.72e-14 SMART
low complexity region 205 215 N/A INTRINSIC
low complexity region 292 305 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151870
Meta Mutation Damage Score 0.6954 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 95% (73/77)
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-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced TrkC+ sensory neurons in the dorsal root ganglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,180 (GRCm39) W3585R probably null Het
Ajm1 G T 2: 25,467,043 (GRCm39) S956* probably null Het
Babam1 G C 8: 71,850,424 (GRCm39) E18Q probably damaging Het
Bcan G T 3: 87,901,519 (GRCm39) S394R probably damaging Het
Birc6 T A 17: 74,999,232 (GRCm39) F4653L probably damaging Het
Camsap2 A T 1: 136,209,832 (GRCm39) H559Q probably benign Het
Cars2 G T 8: 11,580,430 (GRCm39) probably null Het
Ccdc93 T A 1: 121,389,712 (GRCm39) probably benign Het
Ccna2 C A 3: 36,624,879 (GRCm39) probably benign Het
Cdc6 T A 11: 98,803,037 (GRCm39) L326I probably damaging Het
Cdh23 A T 10: 60,255,478 (GRCm39) probably benign Het
Cenpe T A 3: 134,976,661 (GRCm39) S2423T probably benign Het
Cftr A G 6: 18,225,936 (GRCm39) M295V probably benign Het
Cxcl2 A G 5: 91,051,871 (GRCm39) H23R probably benign Het
Cyp4a12b A G 4: 115,291,181 (GRCm39) T370A probably damaging Het
Daam2 A G 17: 49,803,148 (GRCm39) probably benign Het
Dclk3 T C 9: 111,298,276 (GRCm39) F607L probably damaging Het
Des T G 1: 75,337,230 (GRCm39) S57A probably benign Het
Drd1 A T 13: 54,206,964 (GRCm39) S410T probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Fanci T C 7: 79,082,941 (GRCm39) L639P probably damaging Het
Fancm A G 12: 65,140,463 (GRCm39) E395G probably benign Het
Grik3 A G 4: 125,601,790 (GRCm39) D889G probably benign Het
Hmox1 C T 8: 75,826,577 (GRCm39) P267L probably damaging Het
Ifi213 A C 1: 173,394,784 (GRCm39) S584A probably benign Het
Il12rb2 G T 6: 67,333,576 (GRCm39) F234L probably benign Het
Il4i1 T A 7: 44,488,811 (GRCm39) S233T probably damaging Het
Itga4 A G 2: 79,146,032 (GRCm39) S745G probably benign Het
Kalrn T A 16: 33,830,918 (GRCm39) I734F possibly damaging Het
Klk1b16 T C 7: 43,790,425 (GRCm39) I200T probably benign Het
Lrrc4c T A 2: 97,461,117 (GRCm39) M581K probably benign Het
M6pr A T 6: 122,292,033 (GRCm39) I122L probably benign Het
Magi3 T C 3: 103,954,169 (GRCm39) probably benign Het
Mybpc2 T G 7: 44,163,111 (GRCm39) T480P probably benign Het
Or14c44 T C 7: 86,061,575 (GRCm39) S43P probably benign Het
Or1j17 A G 2: 36,578,770 (GRCm39) Y252C probably damaging Het
Or51ab3 A T 7: 103,201,372 (GRCm39) I127F possibly damaging Het
Or8g23 T C 9: 38,971,437 (GRCm39) N175S probably benign Het
Pcx T A 19: 4,669,114 (GRCm39) I704N probably damaging Het
Pde3a G T 6: 141,404,824 (GRCm39) A350S probably damaging Het
Ppox A T 1: 171,107,580 (GRCm39) probably benign Het
Prb1a T A 6: 132,185,507 (GRCm39) Y42F unknown Het
Rsph4a T A 10: 33,785,727 (GRCm39) V546E probably damaging Het
Saxo4 T C 19: 10,458,770 (GRCm39) T87A probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sh3tc1 A G 5: 35,860,693 (GRCm39) probably null Het
Slc22a2 T C 17: 12,803,298 (GRCm39) F44S probably damaging Het
Slco6c1 T A 1: 97,026,223 (GRCm39) D334V probably damaging Het
Smim19 T C 8: 22,953,352 (GRCm39) D105G probably damaging Het
Smpdl3a A G 10: 57,683,588 (GRCm39) T233A probably damaging Het
St8sia5 G A 18: 77,299,460 (GRCm39) probably null Het
Stk32a C A 18: 43,376,149 (GRCm39) Q73K probably benign Het
Tmem129 G T 5: 33,815,100 (GRCm39) probably null Het
Traf3ip3 A T 1: 192,860,599 (GRCm39) L441Q probably damaging Het
Ttn C T 2: 76,731,305 (GRCm39) probably benign Het
Unc45b T C 11: 82,808,672 (GRCm39) S253P possibly damaging Het
Vars2 A G 17: 35,977,150 (GRCm39) probably benign Het
Vmn2r51 C T 7: 9,836,372 (GRCm39) M136I possibly damaging Het
Vmn2r51 A G 7: 9,836,373 (GRCm39) M136T possibly damaging Het
Zfp595 T C 13: 67,465,127 (GRCm39) I379V possibly damaging Het
Other mutations in Heyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Heyl APN 4 123,140,423 (GRCm39) makesense probably null
IGL01420:Heyl APN 4 123,133,967 (GRCm39) missense probably damaging 1.00
IGL01897:Heyl APN 4 123,140,400 (GRCm39) missense probably damaging 0.99
IGL02130:Heyl APN 4 123,140,064 (GRCm39) missense probably benign 0.00
R0347:Heyl UTSW 4 123,127,733 (GRCm39) missense probably benign 0.27
R0661:Heyl UTSW 4 123,139,824 (GRCm39) missense probably damaging 1.00
R1840:Heyl UTSW 4 123,135,183 (GRCm39) missense probably damaging 1.00
R2044:Heyl UTSW 4 123,135,156 (GRCm39) missense probably damaging 1.00
R2132:Heyl UTSW 4 123,139,876 (GRCm39) missense probably damaging 1.00
R7151:Heyl UTSW 4 123,140,254 (GRCm39) missense probably benign 0.00
R8757:Heyl UTSW 4 123,127,666 (GRCm39) missense probably damaging 1.00
R9022:Heyl UTSW 4 123,139,768 (GRCm39) missense probably damaging 1.00
R9127:Heyl UTSW 4 123,139,885 (GRCm39) missense probably damaging 1.00
Z1088:Heyl UTSW 4 123,133,974 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CACTGCTAAGGCTGCATATCCCTG -3'
(R):5'- actgctggatcatctCTCTAGCCC -3'

Sequencing Primer
(F):5'- tgtcagtcttaactttcattcttgtc -3'
(R):5'- ctttccttccataatgtgagacc -3'
Posted On 2014-04-13