Incidental Mutation 'IGL03265:Hey1'
ID 415062
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 # IGL03265
Quality Score
Status
Chromosome 3
Chromosomal Location 8728419-8732098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8729974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 161 (Y161C)
Ref Sequence ENSEMBL: ENSMUSP00000038014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042412]
AlphaFold no structure available at present
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
Abca8a C A 11: 109,943,929 (GRCm39) M1113I probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akr1a1 A G 4: 116,495,014 (GRCm39) M286T probably benign Het
Anapc1 T C 2: 128,469,117 (GRCm39) S1575G probably damaging Het
Apba2 A G 7: 64,345,071 (GRCm39) D87G probably damaging Het
Arhgap21 A G 2: 20,854,439 (GRCm39) F1641S probably benign Het
Atad2b T A 12: 5,074,628 (GRCm39) H1062Q probably benign Het
Bivm A G 1: 44,181,005 (GRCm39) R396G probably damaging Het
Bltp1 T A 3: 37,102,140 (GRCm39) D4777E probably benign Het
Bmi1 T A 2: 18,686,672 (GRCm39) M17K possibly damaging Het
Bptf T C 11: 106,945,454 (GRCm39) N2480S probably benign Het
Cacna2d3 T C 14: 28,674,243 (GRCm39) E944G probably damaging Het
Ces2a C T 8: 105,464,075 (GRCm39) H236Y possibly damaging Het
Dnah7a T C 1: 53,568,007 (GRCm39) D1863G probably benign Het
Dnajc17 C A 2: 119,016,199 (GRCm39) E91D probably benign Het
Dus2 C A 8: 106,760,423 (GRCm39) probably benign Het
Epha6 T C 16: 59,880,594 (GRCm39) probably benign Het
Erap1 A T 13: 74,812,246 (GRCm39) T354S probably damaging Het
Fbxo11 T C 17: 88,300,259 (GRCm39) H851R probably damaging Het
Gm20532 G A 2: 26,522,696 (GRCm39) C90Y unknown Het
Gpr21 T C 2: 37,408,086 (GRCm39) Y211H probably damaging Het
Hectd4 A G 5: 121,398,002 (GRCm39) probably benign Het
Hephl1 G A 9: 14,972,255 (GRCm39) T895I probably benign Het
Kdr A G 5: 76,121,433 (GRCm39) Y526H probably damaging Het
Lpp A G 16: 24,580,737 (GRCm39) Y151C probably damaging Het
Macc1 A G 12: 119,410,711 (GRCm39) N493S probably benign Het
Or2t45 T C 11: 58,669,697 (GRCm39) V248A probably damaging Het
Or52s6 C A 7: 103,091,655 (GRCm39) R225L probably benign Het
Or5m10b T A 2: 85,699,494 (GRCm39) M186K possibly damaging Het
Or5t16 T A 2: 86,819,424 (GRCm39) Y32F probably damaging Het
Or6c1b A T 10: 129,272,794 (GRCm39) T38S possibly damaging Het
Pcdhb21 A G 18: 37,648,206 (GRCm39) D445G probably damaging Het
Prkra T C 2: 76,470,614 (GRCm39) N123D probably benign Het
Slc25a33 A C 4: 149,846,893 (GRCm39) L56R probably damaging Het
Usp36 A G 11: 118,155,635 (GRCm39) V714A possibly damaging Het
Vmn1r174 T A 7: 23,453,898 (GRCm39) L188* probably null Het
Vmn2r12 A G 5: 109,239,936 (GRCm39) V209A probably benign Het
Zfp809 A G 9: 22,154,339 (GRCm39) Y352C probably benign Het
Other mutations in Hey1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Hey1 APN 3 8,731,640 (GRCm39) splice site probably null
IGL02486:Hey1 APN 3 8,731,579 (GRCm39) missense probably damaging 1.00
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 2016-08-02