Incidental Mutation 'IGL02525:Hey2'
ID 297035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hey2
Ensembl Gene ENSMUSG00000019789
Gene Name hairy/enhancer-of-split related with YRPW motif 2
Synonyms Herp1, bHLHb32, CHF1, Hesr2, Hrt2
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL02525
Quality Score
Status
Chromosome 10
Chromosomal Location 30708355-30718779 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 30718643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000019924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019924]
AlphaFold Q9QUS4
Predicted Effect probably null
Transcript: ENSMUST00000019924
AA Change: M1T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: M1T

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
HLH 54 109 6.71e-16 SMART
ORANGE 119 166 5.55e-18 SMART
low complexity region 174 193 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 293 317 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217504
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 member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac hypertrophy, ventricular septal defects, pulmonary and liver congestion, and reduced preweaning viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,101,060 (GRCm39) V701I probably benign Het
Adam18 A G 8: 25,131,783 (GRCm39) probably benign Het
Adamts20 G T 15: 94,180,959 (GRCm39) probably null Het
Adgrf5 G T 17: 43,760,854 (GRCm39) V850F probably damaging Het
Agap2 T A 10: 126,919,070 (GRCm39) probably null Het
Ap4b1 G A 3: 103,720,164 (GRCm39) R62K probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Ccdc12 T A 9: 110,540,169 (GRCm39) D120E probably damaging Het
Ccdc22 A G X: 7,461,249 (GRCm39) S529P probably damaging Het
Cilk1 A G 9: 78,067,675 (GRCm39) K390E probably benign Het
Col1a2 A G 6: 4,531,355 (GRCm39) probably benign Het
Ddx59 A T 1: 136,344,743 (GRCm39) Q138L probably benign Het
Dlc1 A T 8: 37,046,800 (GRCm39) F1091L probably damaging Het
Dnah1 C T 14: 31,027,790 (GRCm39) V682M probably benign Het
Dock9 C T 14: 121,877,538 (GRCm39) D404N probably damaging Het
Eif2b4 A G 5: 31,346,962 (GRCm39) V402A probably damaging Het
Erlin1 T C 19: 44,027,634 (GRCm39) H268R probably benign Het
Ermard T C 17: 15,279,601 (GRCm39) probably benign Het
Fam43a A G 16: 30,419,596 (GRCm39) K60R probably benign Het
Frmd4b T A 6: 97,389,494 (GRCm39) D78V probably damaging Het
Gabrq A G X: 71,880,430 (GRCm39) T308A possibly damaging Het
Gipr A G 7: 18,893,690 (GRCm39) C328R possibly damaging Het
Gm17078 T C 14: 51,848,680 (GRCm39) N19S possibly damaging Het
Gm17541 T C 12: 4,739,907 (GRCm39) probably benign Het
Gm21759 T C 5: 8,229,967 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,250 (GRCm39) noncoding transcript Het
Gspt1 A G 16: 11,048,854 (GRCm39) V318A probably damaging Het
Gtf2ird2 A G 5: 134,245,319 (GRCm39) S526G probably benign Het
Hipk3 T C 2: 104,301,757 (GRCm39) D145G probably damaging Het
Itgae A G 11: 73,021,777 (GRCm39) D886G probably damaging Het
Ktn1 T A 14: 47,962,200 (GRCm39) probably null Het
Med12l A G 3: 58,975,789 (GRCm39) K239R probably benign Het
Milr1 A T 11: 106,656,101 (GRCm39) M124L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mterf1a G A 5: 3,941,583 (GRCm39) S95F probably benign Het
Myef2 C A 2: 124,955,978 (GRCm39) probably benign Het
Nfrkb T A 9: 31,325,812 (GRCm39) I1085N possibly damaging Het
Or13f5 A T 4: 52,825,616 (GRCm39) Y73F probably damaging Het
Or8d2 T A 9: 38,759,536 (GRCm39) M42K possibly damaging Het
Prodh G A 16: 17,890,332 (GRCm39) Q430* probably null Het
Pstk G T 7: 130,972,922 (GRCm39) R7L probably benign Het
Ptgr1 C A 4: 58,978,067 (GRCm39) E108D probably benign Het
Ptpn9 T A 9: 56,944,009 (GRCm39) Y294* probably null Het
Rnls C T 19: 33,115,614 (GRCm39) V153M possibly damaging Het
Ros1 T C 10: 51,992,138 (GRCm39) T1362A possibly damaging Het
Samt3 G A X: 85,090,527 (GRCm39) A140T possibly damaging Het
Sbpl T A 17: 24,173,837 (GRCm39) M16L unknown Het
Sephs1 G A 2: 4,911,407 (GRCm39) C327Y probably damaging Het
Slc13a1 A T 6: 24,137,135 (GRCm39) I93N probably damaging Het
Slc34a1 T C 13: 55,551,051 (GRCm39) probably benign Het
Slc7a9 T C 7: 35,152,860 (GRCm39) S93P probably damaging Het
Slx4 A G 16: 3,798,461 (GRCm39) S1444P probably damaging Het
Spmap2l T A 5: 77,164,400 (GRCm39) D134E probably benign Het
Stk32b C T 5: 37,688,977 (GRCm39) V116M probably damaging Het
Supt5 A G 7: 28,018,372 (GRCm39) probably benign Het
Syne2 T A 12: 76,147,777 (GRCm39) S6439T probably damaging Het
Taar7d A G 10: 23,903,994 (GRCm39) D292G possibly damaging Het
Tal2 A T 4: 53,785,971 (GRCm39) I51F probably damaging Het
Tk2 A T 8: 104,970,032 (GRCm39) N77K probably benign Het
Tmprss3 T A 17: 31,413,865 (GRCm39) probably benign Het
Tnfrsf10b T C 14: 70,019,825 (GRCm39) M319T probably damaging Het
Trim24 A G 6: 37,922,653 (GRCm39) R417G probably damaging Het
Ttn C A 2: 76,594,658 (GRCm39) G18717* probably null Het
Vmn2r102 A G 17: 19,901,447 (GRCm39) T525A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt3 C T 11: 103,703,296 (GRCm39) R260W probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 (GRCm39) T218A probably benign Het
Znfx1 C T 2: 166,879,457 (GRCm39) E776K probably benign Het
Other mutations in Hey2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Hey2 APN 10 30,710,133 (GRCm39) missense probably benign 0.25
R0167:Hey2 UTSW 10 30,716,661 (GRCm39) missense probably benign 0.04
R0279:Hey2 UTSW 10 30,710,006 (GRCm39) missense probably damaging 0.97
R0553:Hey2 UTSW 10 30,716,485 (GRCm39) splice site probably benign
R0592:Hey2 UTSW 10 30,709,953 (GRCm39) missense probably benign 0.44
R0621:Hey2 UTSW 10 30,710,382 (GRCm39) missense probably benign 0.36
R1437:Hey2 UTSW 10 30,709,845 (GRCm39) missense probably benign 0.00
R1457:Hey2 UTSW 10 30,710,352 (GRCm39) missense probably benign 0.45
R2449:Hey2 UTSW 10 30,716,442 (GRCm39) missense possibly damaging 0.94
R4721:Hey2 UTSW 10 30,710,304 (GRCm39) missense possibly damaging 0.65
R4755:Hey2 UTSW 10 30,710,300 (GRCm39) missense probably benign 0.00
R4828:Hey2 UTSW 10 30,710,179 (GRCm39) missense possibly damaging 0.95
R5419:Hey2 UTSW 10 30,710,019 (GRCm39) missense probably benign
R6927:Hey2 UTSW 10 30,710,413 (GRCm39) missense probably benign 0.16
R7079:Hey2 UTSW 10 30,710,382 (GRCm39) missense probably benign 0.36
R8196:Hey2 UTSW 10 30,710,273 (GRCm39) missense probably benign
R8238:Hey2 UTSW 10 30,716,659 (GRCm39) missense probably benign
R8381:Hey2 UTSW 10 30,709,986 (GRCm39) missense probably damaging 1.00
R8383:Hey2 UTSW 10 30,716,665 (GRCm39) missense probably benign 0.01
R8730:Hey2 UTSW 10 30,718,622 (GRCm39) missense possibly damaging 0.68
R9674:Hey2 UTSW 10 30,710,413 (GRCm39) missense probably benign 0.16
R9747:Hey2 UTSW 10 30,709,824 (GRCm39) missense probably benign
Posted On 2015-04-16