Incidental Mutation 'IGL03137:Hsf1'
ID 410595
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 # IGL03137
Quality Score
Status
Chromosome 15
Chromosomal Location 76361562-76385355 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 76380649 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] [ENSMUST00000229363] [ENSMUST00000228868] [ENSMUST00000228757]
AlphaFold P38532
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000226872
Predicted Effect probably benign
Transcript: ENSMUST00000227478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227921
Predicted Effect probably benign
Transcript: ENSMUST00000228371
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Predicted Effect probably benign
Transcript: ENSMUST00000228688
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
Predicted Effect probably benign
Transcript: ENSMUST00000228757
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankub1 T C 3: 57,597,778 (GRCm39) D64G probably damaging Het
Apobec2 C T 17: 48,730,303 (GRCm39) W121* probably null Het
Arid2 A G 15: 96,269,199 (GRCm39) N1104S probably benign Het
Bltp1 T A 3: 37,088,751 (GRCm39) M569K probably damaging Het
Brap T C 5: 121,803,156 (GRCm39) probably benign Het
Cilp A C 9: 65,185,450 (GRCm39) N515T probably benign Het
Cpeb2 T A 5: 43,419,067 (GRCm39) probably benign Het
Creb1 C T 1: 64,615,374 (GRCm39) T242I possibly damaging Het
Ddx60 T C 8: 62,441,117 (GRCm39) V1062A possibly damaging Het
Dock8 A G 19: 25,133,312 (GRCm39) E1153G probably benign Het
Gk5 A G 9: 96,058,345 (GRCm39) probably benign Het
Gm5478 G T 15: 101,552,817 (GRCm39) N60K probably benign Het
Hmcn2 T A 2: 31,252,242 (GRCm39) V904D probably damaging Het
Hnmt T A 2: 23,938,751 (GRCm39) H29L probably damaging Het
Igkv1-122 C A 6: 67,994,400 (GRCm39) T96K probably damaging Het
Iyd T C 10: 3,501,987 (GRCm39) I211T probably damaging Het
Kcnn1 G T 8: 71,303,381 (GRCm39) H34N probably damaging Het
Krtap5-3 G T 7: 141,755,946 (GRCm39) probably benign Het
Map3k19 C T 1: 127,752,052 (GRCm39) R433K probably benign Het
Mss51 A C 14: 20,537,200 (GRCm39) C89W probably damaging Het
Myh9 A T 15: 77,675,289 (GRCm39) I276N probably damaging Het
Myof T C 19: 37,963,337 (GRCm39) E420G probably damaging Het
Nfatc2ip C A 7: 125,989,740 (GRCm39) V215L possibly damaging Het
Or10ag52 A T 2: 87,043,500 (GRCm39) Y88F probably benign Het
Or51m1 T C 7: 103,578,801 (GRCm39) M257T probably benign Het
Or5d18 G A 2: 87,864,754 (GRCm39) A243V probably benign Het
Pcdhb4 T C 18: 37,441,569 (GRCm39) I293T probably damaging Het
Pdcd6ip A G 9: 113,486,213 (GRCm39) S729P possibly damaging Het
Pick1 C A 15: 79,129,501 (GRCm39) H169N possibly damaging Het
Ppp4r4 A C 12: 103,547,643 (GRCm39) K212T probably damaging Het
Racgap1 A G 15: 99,526,622 (GRCm39) S314P probably damaging Het
Rasef C A 4: 73,652,720 (GRCm39) E594* probably null Het
Ryr3 T G 2: 112,740,742 (GRCm39) K522Q probably benign Het
Shoc1 G T 4: 59,094,162 (GRCm39) F187L probably benign Het
Six5 T C 7: 18,831,072 (GRCm39) probably benign Het
Slc26a9 G T 1: 131,691,615 (GRCm39) E619D probably benign Het
Sqor A G 2: 122,649,991 (GRCm39) I412V probably benign Het
Srrt T A 5: 137,294,379 (GRCm39) probably benign Het
Sult1e1 C T 5: 87,726,475 (GRCm39) R213K probably benign Het
Tmc2 T A 2: 130,082,050 (GRCm39) L411H probably damaging Het
Tmem63b T A 17: 45,975,921 (GRCm39) N511Y probably damaging Het
Ucp3 T A 7: 100,131,969 (GRCm39) probably benign Het
Vmn1r201 A T 13: 22,658,974 (GRCm39) I63F probably benign Het
Vps13c G T 9: 67,797,662 (GRCm39) L522F probably damaging Het
Wwp1 T A 4: 19,678,408 (GRCm39) T3S probably damaging Het
Zc3hav1 A G 6: 38,309,329 (GRCm39) S498P probably benign Het
Other mutations in Hsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Hsf1 APN 15 76,382,403 (GRCm39) missense probably benign 0.01
IGL01668:Hsf1 APN 15 76,381,162 (GRCm39) critical splice donor site probably null
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
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 2016-08-02