Incidental Mutation 'IGL02116:Hey1'
ID280402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hey1
Ensembl Gene ENSMUSG00000040289
Gene Namehairy/enhancer-of-split related with YRPW motif 1
SynonymsHRT1, CHF2, hesr-1, bHLHb31, Herp2, Hesr1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02116
Quality Score
Status
Chromosome3
Chromosomal Location8663359-8667256 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 8666580 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042412]
Predicted Effect probably null
Transcript: ENSMUST00000042412
SMART Domains Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289

DomainStartEndE-ValueType
HLH 55 110 2.3e-14 SMART
ORANGE 120 167 2.8e-14 SMART
low complexity region 186 197 N/A INTRINSIC
low complexity region 232 244 N/A INTRINSIC
low complexity region 246 277 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194299
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 nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no major developmental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Foxl2 T C 9: 98,956,058 M133T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Leo1 T A 9: 75,449,415 I359K probably damaging Het
Mcoln3 A G 3: 146,133,909 N339D probably benign Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Olfr235 A G 19: 12,269,010 Y260C probably damaging Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 T C 1: 45,911,528 T255A probably benign Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign Het
Other mutations in Hey1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Hey1 APN 3 8666519 missense probably damaging 1.00
IGL03265:Hey1 APN 3 8664914 missense probably benign 0.07
R1615:Hey1 UTSW 3 8664838 missense possibly damaging 0.47
R1969:Hey1 UTSW 3 8666819 missense probably benign 0.01
R1987:Hey1 UTSW 3 8664897 missense probably benign 0.16
R2419:Hey1 UTSW 3 8665943 critical splice donor site probably null
R3177:Hey1 UTSW 3 8664891 missense probably benign 0.10
R3277:Hey1 UTSW 3 8664891 missense probably benign 0.10
R3941:Hey1 UTSW 3 8664578 missense probably damaging 1.00
R4709:Hey1 UTSW 3 8665903 intron probably benign
R5977:Hey1 UTSW 3 8666358 splice site probably null
R5988:Hey1 UTSW 3 8666319 missense probably damaging 1.00
X0019:Hey1 UTSW 3 8664867 missense probably benign 0.06
Posted On2015-04-16