Incidental Mutation 'IGL03265:Hey1'
ID415062
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 #IGL03265
Quality Score
Status
Chromosome3
Chromosomal Location8663359-8667256 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8664914 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 161 (Y161C)
Ref Sequence ENSEMBL: ENSMUSP00000038014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042412]
Predicted Effect probably benign
Transcript: ENSMUST00000042412
AA Change: Y161C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: Y161C

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
4932438A13Rik T A 3: 37,047,991 D4777E probably benign Het
Abca8a C A 11: 110,053,103 M1113I probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akr1a1 A G 4: 116,637,817 M286T probably benign Het
Anapc1 T C 2: 128,627,197 S1575G probably damaging Het
Apba2 A G 7: 64,695,323 D87G probably damaging Het
Arhgap21 A G 2: 20,849,628 F1641S probably benign Het
Atad2b T A 12: 5,024,628 H1062Q probably benign Het
Bivm A G 1: 44,141,845 R396G probably damaging Het
Bmi1 T A 2: 18,681,861 M17K possibly damaging Het
Bptf T C 11: 107,054,628 N2480S probably benign Het
Cacna2d3 T C 14: 28,952,286 E944G probably damaging Het
Ces2a C T 8: 104,737,443 H236Y possibly damaging Het
Dnah7a T C 1: 53,528,848 D1863G probably benign Het
Dnajc17 C A 2: 119,185,718 E91D probably benign Het
Dus2 C A 8: 106,033,791 probably benign Het
Epha6 T C 16: 60,060,231 probably benign Het
Erap1 A T 13: 74,664,127 T354S probably damaging Het
Fbxo11 T C 17: 87,992,831 H851R probably damaging Het
Gm20532 G A 2: 26,632,684 C90Y unknown Het
Gpr21 T C 2: 37,518,074 Y211H probably damaging Het
Hectd4 A G 5: 121,259,939 probably benign Het
Hephl1 G A 9: 15,060,959 T895I probably benign Het
Kdr A G 5: 75,960,773 Y526H probably damaging Het
Lpp A G 16: 24,761,987 Y151C probably damaging Het
Macc1 A G 12: 119,446,976 N493S probably benign Het
Olfr1022 T A 2: 85,869,150 M186K possibly damaging Het
Olfr1101 T A 2: 86,989,080 Y32F probably damaging Het
Olfr315 T C 11: 58,778,871 V248A probably damaging Het
Olfr605 C A 7: 103,442,448 R225L probably benign Het
Olfr786 A T 10: 129,436,925 T38S possibly damaging Het
Pcdhb21 A G 18: 37,515,153 D445G probably damaging Het
Prkra T C 2: 76,640,270 N123D probably benign Het
Slc25a33 A C 4: 149,762,436 L56R probably damaging Het
Usp36 A G 11: 118,264,809 V714A possibly damaging Het
Vmn1r174 T A 7: 23,754,473 L188* probably null Het
Vmn2r12 A G 5: 109,092,070 V209A probably benign Het
Zfp809 A G 9: 22,243,043 Y352C probably benign Het
Other mutations in Hey1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Hey1 APN 3 8666580 splice site probably null
IGL02486:Hey1 APN 3 8666519 missense probably damaging 1.00
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
R7951:Hey1 UTSW 3 8664872 missense possibly damaging 0.92
R8507:Hey1 UTSW 3 8664776 missense probably benign
R8508:Hey1 UTSW 3 8664776 missense probably benign
R8509:Hey1 UTSW 3 8664776 missense probably benign
X0019:Hey1 UTSW 3 8664867 missense probably benign 0.06
Posted On2016-08-02