Incidental Mutation 'IGL01420:Heyl'
ID80379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heyl
Ensembl Gene ENSMUSG00000032744
Gene Namehairy/enhancer-of-split related with YRPW motif-like
SynonymsHrt3, bHLHb33, Hey3, Hesr3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01420
Quality Score
Status
Chromosome4
Chromosomal Location123233556-123249875 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 123240174 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 42 (Q42K)
Ref Sequence ENSEMBL: ENSMUSP00000040576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040821]
Predicted Effect probably damaging
Transcript: ENSMUST00000040821
AA Change: Q42K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000040576
Gene: ENSMUSG00000032744
AA Change: Q42K

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
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T A 7: 28,140,133 M457K probably benign Het
Acap2 A G 16: 31,101,819 probably benign Het
Actr6 A T 10: 89,725,165 probably benign Het
Adamts3 A T 5: 89,703,057 M541K possibly damaging Het
Adgre4 T C 17: 55,799,785 probably benign Het
Anxa6 T C 11: 54,992,363 Y481C probably damaging Het
Apbb1ip A T 2: 22,858,280 I371F possibly damaging Het
Arhgef10l T C 4: 140,570,338 D261G probably damaging Het
Bche T C 3: 73,702,009 H28R probably benign Het
C2cd3 T C 7: 100,454,858 V2026A probably benign Het
Cacna1d C T 14: 30,051,638 V1697I probably benign Het
Celsr2 T C 3: 108,393,763 H2738R probably benign Het
Celsr3 A G 9: 108,841,190 probably null Het
Cep152 A T 2: 125,563,652 D1653E possibly damaging Het
Cfap57 T A 4: 118,612,940 I248F probably benign Het
Clcnka C A 4: 141,389,332 R536L probably benign Het
Dao T A 5: 114,023,820 probably benign Het
Dnajc10 T C 2: 80,345,023 S585P possibly damaging Het
Dysf C T 6: 84,149,759 Q1333* probably null Het
Eps8l2 T A 7: 141,357,663 S397T probably benign Het
Fap A G 2: 62,504,502 probably benign Het
Fbf1 T C 11: 116,145,996 T971A probably benign Het
Fbxl17 C T 17: 63,385,052 V22M probably damaging Het
Fundc2 T C X: 75,390,865 probably benign Het
Hyal4 A G 6: 24,755,872 K30E probably benign Het
Igsf10 T C 3: 59,319,650 I2201V probably benign Het
Il34 T C 8: 110,742,713 K157E probably damaging Het
Kcnj13 T C 1: 87,389,044 T116A probably damaging Het
Lpl T C 8: 68,887,433 probably benign Het
Mcm6 A G 1: 128,345,875 L406P probably damaging Het
Mst1 G A 9: 108,082,828 R328H probably damaging Het
Nadk2 T C 15: 9,102,984 S308P probably damaging Het
Nae1 G T 8: 104,523,165 Q225K probably benign Het
Ncoa6 G A 2: 155,407,587 P1266S probably damaging Het
Neb A G 2: 52,157,377 Y6485H probably damaging Het
Nin G A 12: 70,045,414 A707V probably benign Het
Nmur1 T C 1: 86,387,391 T218A probably benign Het
Npr3 T C 15: 11,858,632 N135D probably damaging Het
Nup107 A T 10: 117,785,021 L142Q probably damaging Het
Pdgfc T A 3: 81,141,443 S53T probably benign Het
Plxdc2 T A 2: 16,650,139 V232D probably damaging Het
Pou2f2 T C 7: 25,092,952 N493D possibly damaging Het
Rtel1 T C 2: 181,354,401 I750T probably benign Het
Sbk1 A G 7: 126,292,012 probably null Het
Sec24d A G 3: 123,350,009 N603S probably benign Het
Slc38a10 T A 11: 120,106,460 E736V probably damaging Het
Smc6 A G 12: 11,291,658 Y559C probably benign Het
Sprr4 A T 3: 92,500,384 V37E unknown Het
Sptbn2 A G 19: 4,734,125 T632A probably benign Het
Trim31 A G 17: 36,898,411 M20V probably benign Het
Trim65 C A 11: 116,126,509 V376L probably damaging Het
Ttn T C 2: 76,712,076 D25195G probably damaging Het
Tysnd1 A G 10: 61,702,051 T503A possibly damaging Het
Vtn A T 11: 78,499,374 I9L probably benign Het
Zfp398 A G 6: 47,865,934 M175V probably benign Het
Other mutations in Heyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Heyl APN 4 123246630 makesense probably null
IGL01897:Heyl APN 4 123246607 missense probably damaging 0.99
IGL02130:Heyl APN 4 123246271 missense probably benign 0.00
R0347:Heyl UTSW 4 123233940 missense probably benign 0.27
R0661:Heyl UTSW 4 123246031 missense probably damaging 1.00
R1559:Heyl UTSW 4 123241399 missense probably damaging 1.00
R1840:Heyl UTSW 4 123241390 missense probably damaging 1.00
R2044:Heyl UTSW 4 123241363 missense probably damaging 1.00
R2132:Heyl UTSW 4 123246083 missense probably damaging 1.00
R7151:Heyl UTSW 4 123246461 missense probably benign 0.00
Z1088:Heyl UTSW 4 123240181 small deletion probably benign
Posted On2013-11-05