Incidental Mutation 'IGL01668:Hsf1'
ID 103390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf1
Ensembl Gene ENSMUSG00000022556
Gene Name heat shock factor 1
Synonyms heat shock transcription factor 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01668
Quality Score
Status
Chromosome 15
Chromosomal Location 76361562-76385355 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 76381162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072838] [ENSMUST00000226860] [ENSMUST00000226872] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000229363] [ENSMUST00000228868]
AlphaFold P38532
Predicted Effect probably null
Transcript: ENSMUST00000072838
SMART Domains Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556

DomainStartEndE-ValueType
HSF 14 118 2.27e-66 SMART
Pfam:Vert_HS_TF 247 414 6e-65 PFAM
Pfam:Vert_HS_TF 412 503 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226238
Predicted Effect probably benign
Transcript: ENSMUST00000226860
Predicted Effect probably null
Transcript: ENSMUST00000226872
Predicted Effect probably null
Transcript: ENSMUST00000227478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227921
Predicted Effect probably null
Transcript: ENSMUST00000228371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect probably null
Transcript: ENSMUST00000229363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect probably benign
Transcript: ENSMUST00000228688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phsphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Aug 2016]
PHENOTYPE: Inactivation of this gene results in female infertility. Additional abnormalities observed in one line of targeted mice include placental defects, growth retardation, loss of the classical heat shock response, and impaired immune response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,554,993 (GRCm39) V444A possibly damaging Het
Chd9 A T 8: 91,753,404 (GRCm39) H1799L possibly damaging Het
Cic C T 7: 24,990,629 (GRCm39) P1108S possibly damaging Het
Clba1 T C 12: 112,773,264 (GRCm39) S86P probably damaging Het
Cldn16 T A 16: 26,301,296 (GRCm39) Y201* probably null Het
Col6a6 C A 9: 105,586,470 (GRCm39) R1850S probably damaging Het
Cryge A G 1: 65,087,857 (GRCm39) Y151H probably damaging Het
Dhcr7 T A 7: 143,397,048 (GRCm39) V180D probably damaging Het
Dmwd C T 7: 18,815,080 (GRCm39) R577W probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm5901 C T 7: 105,026,771 (GRCm39) R180C probably benign Het
Hook2 A T 8: 85,720,207 (GRCm39) Y131F possibly damaging Het
Ighv1-62-3 A G 12: 115,424,613 (GRCm39) probably benign Het
Ikbke T G 1: 131,184,675 (GRCm39) D666A probably benign Het
Il1r1 C T 1: 40,352,489 (GRCm39) T556I probably benign Het
Larp4 T C 15: 99,885,355 (GRCm39) S69P probably damaging Het
Lrrc27 G T 7: 138,807,827 (GRCm39) probably benign Het
Marchf2 A C 17: 33,922,070 (GRCm39) W97G probably damaging Het
Or4c10b C A 2: 89,711,443 (GRCm39) P91Q probably benign Het
Or5b21 A G 19: 12,839,231 (GRCm39) I31V probably benign Het
Or8k28 A G 2: 86,285,746 (GRCm39) Y290H probably damaging Het
Pah T A 10: 87,414,123 (GRCm39) I324N probably damaging Het
Pcdhb7 A G 18: 37,476,205 (GRCm39) E447G probably benign Het
Prex2 T C 1: 11,223,869 (GRCm39) V731A probably benign Het
Prpsap2 A G 11: 61,646,277 (GRCm39) V44A probably benign Het
Rp1 T C 1: 4,415,941 (GRCm39) N1724D probably damaging Het
Sap130 A G 18: 31,813,493 (GRCm39) N517D probably damaging Het
Slc13a3 A C 2: 165,272,212 (GRCm39) F277C probably damaging Het
Snx19 A G 9: 30,339,119 (GRCm39) T86A probably benign Het
Tbc1d32 A T 10: 55,999,673 (GRCm39) V833D probably benign Het
Washc2 A G 6: 116,239,299 (GRCm39) D1290G probably damaging Het
Wdr87-ps G A 7: 29,236,855 (GRCm39) noncoding transcript Het
Other mutations in Hsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Hsf1 APN 15 76,382,403 (GRCm39) missense probably benign 0.01
IGL01724:Hsf1 APN 15 76,381,037 (GRCm39) missense possibly damaging 0.83
IGL02111:Hsf1 APN 15 76,380,281 (GRCm39) splice site probably benign
IGL02503:Hsf1 APN 15 76,382,870 (GRCm39) missense probably benign 0.03
IGL03137:Hsf1 APN 15 76,380,649 (GRCm39) splice site probably benign
R0350:Hsf1 UTSW 15 76,384,679 (GRCm39) missense probably benign 0.00
R6906:Hsf1 UTSW 15 76,361,919 (GRCm39) critical splice donor site probably null
R7170:Hsf1 UTSW 15 76,384,221 (GRCm39) missense probably damaging 1.00
R7749:Hsf1 UTSW 15 76,383,387 (GRCm39) missense probably benign 0.38
R7950:Hsf1 UTSW 15 76,382,393 (GRCm39) missense probably benign
R8050:Hsf1 UTSW 15 76,382,481 (GRCm39) missense probably benign 0.16
R8724:Hsf1 UTSW 15 76,381,999 (GRCm39) missense probably damaging 1.00
R8752:Hsf1 UTSW 15 76,384,344 (GRCm39) nonsense probably null
R8919:Hsf1 UTSW 15 76,382,051 (GRCm39) missense probably benign 0.03
R9444:Hsf1 UTSW 15 76,384,769 (GRCm39) missense probably damaging 0.98
R9487:Hsf1 UTSW 15 76,382,398 (GRCm39) missense probably benign 0.07
Posted On 2014-01-21