Incidental Mutation 'R8509:Hey1'
ID 655742
Institutional Source Beutler Lab
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
MMRRC Submission 067944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8509 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 8728419-8732098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 8729836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 207 (A207G)
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: A207G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: A207G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,703,669 (GRCm39) S181P possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ano3 T C 2: 110,496,180 (GRCm39) E858G possibly damaging Het
Asrgl1 T C 19: 9,091,590 (GRCm39) K244E probably damaging Het
BC048679 T A 7: 81,145,116 (GRCm39) T82S probably benign Het
Brip1 A T 11: 86,088,774 (GRCm39) C42* probably null Het
Cabcoco1 T C 10: 68,267,119 (GRCm39) E296G probably damaging Het
Ccnb1ip1 T C 14: 51,029,714 (GRCm39) N116S probably benign Het
Cep95 A G 11: 106,695,876 (GRCm39) E214G probably benign Het
Cyp11b1 A G 15: 74,711,202 (GRCm39) F159L possibly damaging Het
Dmxl2 C A 9: 54,335,341 (GRCm39) E660* probably null Het
Dnah14 C T 1: 181,642,220 (GRCm39) T112M Het
Fancd2 A G 6: 113,549,531 (GRCm39) T74A probably benign Het
Fat4 G T 3: 39,036,052 (GRCm39) V3235L probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,699,589 (GRCm39) I146S probably damaging Het
Hbb-bs T A 7: 103,475,919 (GRCm39) K133* probably null Het
Hmcn1 T A 1: 150,449,302 (GRCm39) K5446* probably null Het
Hyal6 A T 6: 24,734,605 (GRCm39) E179D probably damaging Het
Inpp5b T A 4: 124,637,698 (GRCm39) probably null Het
Lrba A G 3: 86,255,483 (GRCm39) K942E probably benign Het
Lrrcc1 A G 3: 14,601,567 (GRCm39) N110S probably damaging Het
Mcoln3 A G 3: 145,830,647 (GRCm39) I126V probably benign Het
Ncoa7 T C 10: 30,572,048 (GRCm39) I242V probably benign Het
Ndufb4 A G 16: 37,469,506 (GRCm39) I66T probably benign Het
Npffr2 T C 5: 89,731,188 (GRCm39) S373P possibly damaging Het
Or5d20-ps1 T C 2: 87,931,866 (GRCm39) Y155C probably benign Het
Pi4ka A T 16: 17,172,008 (GRCm39) I579N Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ripk2 T C 4: 16,124,436 (GRCm39) E424G probably benign Het
Rnf19b T A 4: 128,967,369 (GRCm39) C304S probably damaging Het
Rtp1 T C 16: 23,248,064 (GRCm39) W46R probably damaging Het
Ryr2 A G 13: 11,592,664 (GRCm39) probably null Het
Sbf1 A T 15: 89,177,660 (GRCm39) D1674E probably damaging Het
Sgf29 T A 7: 126,270,834 (GRCm39) probably benign Het
Slc22a8 T C 19: 8,585,339 (GRCm39) probably null Het
Smg6 T C 11: 74,932,702 (GRCm39) S998P probably benign Het
Spata31h1 A G 10: 82,126,950 (GRCm39) V2020A probably benign Het
Srgap3 G A 6: 112,708,297 (GRCm39) Q801* probably null Het
Taf4b A G 18: 15,031,112 (GRCm39) D832G probably damaging Het
Trim12a T C 7: 103,955,234 (GRCm39) D163G probably benign Het
Trim46 A G 3: 89,153,020 (GRCm39) probably null Het
Trpm4 A G 7: 44,971,785 (GRCm39) V274A probably damaging Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGGGCTTGCCAAGGTTTGC -3'
(R):5'- ATTGAAGGACTCGATGCCTCC -3'

Sequencing Primer
(F):5'- CAAGGTTTGCTGCCTGCG -3'
(R):5'- ACTCGATGCCTCCGACCC -3'
Posted On 2020-10-20