Incidental Mutation 'R0661:Heyl'
ID 61834
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 038846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0661 (G1)
Quality Score 116
Status Not validated
Chromosome 4
Chromosomal Location 123127349-123143663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123139824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 128 (V128F)
Ref Sequence ENSEMBL: ENSMUSP00000040576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040821]
AlphaFold Q9DBX7
Predicted Effect probably damaging
Transcript: ENSMUST00000040821
AA Change: V128F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040576
Gene: ENSMUSG00000032744
AA Change: V128F

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A 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
R1559:Heyl UTSW 4 123,135,192 (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'- ATTCAGGTGCAGCAGGTCCCATAG -3'
(R):5'- GTCATCAGATTTCCCAGCTCCAGG -3'

Sequencing Primer
(F):5'- AGCAGGTCCCATAGGGTTTC -3'
(R):5'- AACAAATTCCGCCGGGTTG -3'
Posted On 2013-07-30