Incidental Mutation 'IGL02219:Hsf2'
ID 285062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf2
Ensembl Gene ENSMUSG00000019878
Gene Name heat shock factor 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02219
Quality Score
Status
Chromosome 10
Chromosomal Location 57362481-57389231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57372370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 108 (K108Q)
Ref Sequence ENSEMBL: ENSMUSP00000151957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079833
AA Change: K108Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: K108Q

DomainStartEndE-ValueType
HSF 6 110 1.99e-62 SMART
coiled coil region 133 176 N/A INTRINSIC
Pfam:Vert_HS_TF 230 392 1.5e-39 PFAM
Pfam:Vert_HS_TF 391 494 2.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219171
Predicted Effect probably damaging
Transcript: ENSMUST00000220042
AA Change: K51Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220353
AA Change: K108Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik A T 1: 192,515,691 (GRCm39) noncoding transcript Het
Abcb10 G A 8: 124,681,166 (GRCm39) H677Y probably benign Het
Ager T C 17: 34,819,094 (GRCm39) V314A probably damaging Het
Asxl3 A G 18: 22,586,683 (GRCm39) M158V possibly damaging Het
Atp1a2 A T 1: 172,107,285 (GRCm39) M745K probably damaging Het
Atp1a2 G A 1: 172,107,298 (GRCm39) Q741* probably null Het
Begain A G 12: 108,999,656 (GRCm39) S577P probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Camk2b A G 11: 5,926,872 (GRCm39) L497P possibly damaging Het
Cand2 T A 6: 115,780,773 (GRCm39) I1219N probably damaging Het
Cckbr T A 7: 105,083,255 (GRCm39) Y153N probably damaging Het
Cep250 T G 2: 155,833,514 (GRCm39) V1812G probably benign Het
Cyp2c39 A T 19: 39,556,643 (GRCm39) probably benign Het
Ddx43 T A 9: 78,324,001 (GRCm39) M444K probably damaging Het
Dnm1 A T 2: 32,213,462 (GRCm39) M506K probably benign Het
Duox2 A T 2: 122,125,145 (GRCm39) H352Q probably benign Het
Fcgbpl1 T C 7: 27,854,060 (GRCm39) Y1675H probably damaging Het
Fsip2 A G 2: 82,808,174 (GRCm39) T1498A probably benign Het
Gcn1 A T 5: 115,751,826 (GRCm39) Q2067L possibly damaging Het
Get4 G T 5: 139,249,384 (GRCm39) probably null Het
Gm6370 G A 5: 146,430,453 (GRCm39) A213T possibly damaging Het
Gpr135 T C 12: 72,117,047 (GRCm39) Y240C probably damaging Het
Gstm5 T A 3: 107,805,347 (GRCm39) L145Q probably damaging Het
Hoxb3 T C 11: 96,236,986 (GRCm39) Y355H probably damaging Het
Kdm3a T C 6: 71,577,718 (GRCm39) N694S probably benign Het
Lrpap1 G A 5: 35,253,411 (GRCm39) probably benign Het
Mapk8ip3 T C 17: 25,118,532 (GRCm39) T1162A probably damaging Het
Mettl14 T C 3: 123,168,540 (GRCm39) probably benign Het
Mrgprx1 T C 7: 47,671,477 (GRCm39) Y90C probably benign Het
Mybpc3 A T 2: 90,951,368 (GRCm39) probably null Het
Nup88 C T 11: 70,860,518 (GRCm39) G87D probably benign Het
Or5w20 A G 2: 87,727,317 (GRCm39) Y258C possibly damaging Het
Or7d9 A T 9: 20,197,756 (GRCm39) T254S probably benign Het
Or9i1 C T 19: 13,839,187 (GRCm39) T10M probably damaging Het
Pan2 G A 10: 128,156,221 (GRCm39) E1133K probably benign Het
Pcsk2 T C 2: 143,635,045 (GRCm39) S307P probably damaging Het
Pdgfa C T 5: 138,971,950 (GRCm39) V150I probably damaging Het
Phf12 T C 11: 77,875,022 (GRCm39) C83R probably damaging Het
Pla2g2c A G 4: 138,463,319 (GRCm39) Y71C probably damaging Het
Pou2f2 T A 7: 24,797,107 (GRCm39) Q218L probably damaging Het
Prl8a9 C T 13: 27,743,353 (GRCm39) V151I possibly damaging Het
Prop1 T C 11: 50,842,911 (GRCm39) D92G probably damaging Het
Rnf13 A G 3: 57,703,644 (GRCm39) Y116C probably damaging Het
Ro60 A G 1: 143,637,013 (GRCm39) C400R possibly damaging Het
Scrib T A 15: 75,936,885 (GRCm39) K383* probably null Het
Slc44a5 T C 3: 153,944,796 (GRCm39) Y138H possibly damaging Het
Stra6 G A 9: 58,047,752 (GRCm39) V108M probably benign Het
Tspan10 G T 11: 120,337,198 (GRCm39) A323S probably benign Het
Ttc22 T A 4: 106,495,687 (GRCm39) V347D probably damaging Het
Ugt1a10 C T 1: 87,983,780 (GRCm39) L193F probably benign Het
Vps13d G T 4: 144,894,716 (GRCm39) H457N probably benign Het
Vrtn A G 12: 84,695,607 (GRCm39) Y119C probably damaging Het
Xpnpep3 T C 15: 81,311,657 (GRCm39) F121S probably damaging Het
Other mutations in Hsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Hsf2 APN 10 57,388,124 (GRCm39) missense probably benign 0.00
IGL00965:Hsf2 APN 10 57,388,196 (GRCm39) missense probably damaging 1.00
IGL01338:Hsf2 APN 10 57,377,475 (GRCm39) missense probably damaging 1.00
IGL01518:Hsf2 APN 10 57,388,230 (GRCm39) missense probably damaging 1.00
IGL01721:Hsf2 APN 10 57,372,277 (GRCm39) missense probably benign 0.13
IGL03493:Hsf2 APN 10 57,381,462 (GRCm39) missense probably damaging 1.00
G1Funyon:Hsf2 UTSW 10 57,381,442 (GRCm39) missense probably damaging 1.00
R0270:Hsf2 UTSW 10 57,378,735 (GRCm39) missense probably benign 0.28
R1774:Hsf2 UTSW 10 57,388,242 (GRCm39) missense probably damaging 1.00
R2406:Hsf2 UTSW 10 57,373,642 (GRCm39) missense probably damaging 0.96
R3410:Hsf2 UTSW 10 57,381,378 (GRCm39) missense probably damaging 1.00
R4829:Hsf2 UTSW 10 57,372,266 (GRCm39) missense probably damaging 0.96
R4958:Hsf2 UTSW 10 57,377,467 (GRCm39) missense probably damaging 0.99
R5154:Hsf2 UTSW 10 57,380,808 (GRCm39) missense probably benign
R5237:Hsf2 UTSW 10 57,382,317 (GRCm39) missense probably benign 0.16
R5903:Hsf2 UTSW 10 57,380,819 (GRCm39) missense probably benign
R6125:Hsf2 UTSW 10 57,388,101 (GRCm39) missense probably benign
R6126:Hsf2 UTSW 10 57,372,013 (GRCm39) missense probably damaging 1.00
R6280:Hsf2 UTSW 10 57,387,591 (GRCm39) missense probably benign 0.03
R6309:Hsf2 UTSW 10 57,362,676 (GRCm39) start gained probably benign
R6954:Hsf2 UTSW 10 57,380,739 (GRCm39) missense probably damaging 1.00
R6966:Hsf2 UTSW 10 57,372,080 (GRCm39) missense probably damaging 1.00
R7088:Hsf2 UTSW 10 57,388,188 (GRCm39) missense probably damaging 1.00
R7182:Hsf2 UTSW 10 57,381,272 (GRCm39) missense possibly damaging 0.87
R7511:Hsf2 UTSW 10 57,380,653 (GRCm39) missense probably benign 0.00
R7743:Hsf2 UTSW 10 57,387,431 (GRCm39) splice site probably null
R8176:Hsf2 UTSW 10 57,381,290 (GRCm39) nonsense probably null
R8301:Hsf2 UTSW 10 57,381,442 (GRCm39) missense probably damaging 1.00
R8368:Hsf2 UTSW 10 57,388,241 (GRCm39) missense probably damaging 1.00
R8682:Hsf2 UTSW 10 57,381,267 (GRCm39) missense possibly damaging 0.94
R9506:Hsf2 UTSW 10 57,381,241 (GRCm39) critical splice acceptor site probably null
R9520:Hsf2 UTSW 10 57,371,996 (GRCm39) missense probably damaging 0.99
Z1088:Hsf2 UTSW 10 57,372,264 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16