Incidental Mutation 'IGL02116:Hey1'
ID 280402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hey1
Ensembl Gene ENSMUSG00000040289
Gene Name hairy/enhancer-of-split related with YRPW motif 1
Synonyms Herp2, hesr-1, bHLHb31, CHF2, Hesr1, HRT1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02116
Quality Score
Status
Chromosome 3
Chromosomal Location 8728419-8732098 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 8731640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042412]
AlphaFold no structure available at present
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: 84,981,018 (GRCm39) N190K possibly damaging Het
Adamts19 T C 18: 58,970,571 (GRCm39) S52P probably benign Het
Ahrr G T 13: 74,368,692 (GRCm39) H160Q possibly damaging Het
Ap4s1 T C 12: 51,769,833 (GRCm39) probably null Het
Atrn T C 2: 130,800,009 (GRCm39) V462A probably damaging Het
D630003M21Rik T C 2: 158,045,130 (GRCm39) S800G possibly damaging Het
Dach1 T G 14: 98,138,859 (GRCm39) N528T probably damaging Het
Foxl2 T C 9: 98,838,111 (GRCm39) M133T probably damaging Het
Grsf1 A G 5: 88,818,033 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,042,772 (GRCm39) I43T probably damaging Het
Helz2 T C 2: 180,873,978 (GRCm39) Y2172C probably damaging Het
Hnrnph3 A T 10: 62,851,855 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,568 (GRCm39) Y81* probably null Het
Inhba A G 13: 16,201,557 (GRCm39) H373R probably benign Het
Leo1 T A 9: 75,356,697 (GRCm39) I359K probably damaging Het
Mcoln3 A G 3: 145,839,664 (GRCm39) N339D probably benign Het
Mrpl19 G A 6: 81,942,758 (GRCm39) P51S probably benign Het
Nadk C A 4: 155,663,763 (GRCm39) probably benign Het
Or5an11 A G 19: 12,246,374 (GRCm39) Y260C probably damaging Het
Or5d39 T A 2: 87,979,632 (GRCm39) T244S probably benign Het
Pappa2 T G 1: 158,672,695 (GRCm39) I1083L probably benign Het
R3hdm2 A G 10: 127,334,421 (GRCm39) D948G probably damaging Het
Rbm15 A T 3: 107,237,596 (GRCm39) L934Q probably damaging Het
Rec8 T A 14: 55,862,336 (GRCm39) probably null Het
Riok1 A G 13: 38,243,932 (GRCm39) E486G possibly damaging Het
Rptn A C 3: 93,302,404 (GRCm39) E40A possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 T C 1: 45,950,688 (GRCm39) T255A probably benign Het
Slc5a8 A T 10: 88,755,362 (GRCm39) M490L probably benign Het
Sned1 C A 1: 93,209,447 (GRCm39) C62* probably null Het
Sptbn4 T C 7: 27,063,782 (GRCm39) T2215A probably benign Het
Synpo T A 18: 60,736,528 (GRCm39) R234W probably damaging Het
Tmco3 A T 8: 13,342,706 (GRCm39) probably benign Het
Tmprss13 A G 9: 45,244,972 (GRCm39) D250G probably benign Het
Vmn2r31 T A 7: 7,397,548 (GRCm39) I237F probably damaging Het
Wdr90 A G 17: 26,078,466 (GRCm39) V306A probably benign Het
Zfp629 A G 7: 127,211,890 (GRCm39) W8R probably damaging Het
Zim1 T C 7: 6,681,253 (GRCm39) T137A probably benign Het
Other mutations in Hey1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Hey1 APN 3 8,731,579 (GRCm39) missense probably damaging 1.00
IGL03265:Hey1 APN 3 8,729,974 (GRCm39) missense probably benign 0.07
R1615:Hey1 UTSW 3 8,729,898 (GRCm39) missense possibly damaging 0.47
R1969:Hey1 UTSW 3 8,731,879 (GRCm39) missense probably benign 0.01
R1987:Hey1 UTSW 3 8,729,957 (GRCm39) missense probably benign 0.16
R2419:Hey1 UTSW 3 8,731,003 (GRCm39) critical splice donor site probably null
R3177:Hey1 UTSW 3 8,729,951 (GRCm39) missense probably benign 0.10
R3277:Hey1 UTSW 3 8,729,951 (GRCm39) missense probably benign 0.10
R3941:Hey1 UTSW 3 8,729,638 (GRCm39) missense probably damaging 1.00
R4709:Hey1 UTSW 3 8,730,963 (GRCm39) intron probably benign
R5977:Hey1 UTSW 3 8,731,418 (GRCm39) splice site probably null
R5988:Hey1 UTSW 3 8,731,379 (GRCm39) missense probably damaging 1.00
R7951:Hey1 UTSW 3 8,729,932 (GRCm39) missense possibly damaging 0.92
R8507:Hey1 UTSW 3 8,729,836 (GRCm39) missense probably benign
R8508:Hey1 UTSW 3 8,729,836 (GRCm39) missense probably benign
R8509:Hey1 UTSW 3 8,729,836 (GRCm39) missense probably benign
R9126:Hey1 UTSW 3 8,729,651 (GRCm39) missense probably benign 0.03
X0019:Hey1 UTSW 3 8,729,927 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16