Incidental Mutation 'IGL03137:Hsf1'
ID410595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf1
Ensembl Gene ENSMUSG00000022556
Gene Nameheat shock factor 1
Synonymsheat shock transcription factor 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03137
Quality Score
Status
Chromosome15
Chromosomal Location76477422-76501913 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 76496449 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072838] [ENSMUST00000226860] [ENSMUST00000226872] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000229363] [ENSMUST00000228868]
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: ENSMUST00000228688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
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
4932438A13Rik T A 3: 37,034,602 M569K probably damaging Het
AI481877 G T 4: 59,094,162 F187L probably benign Het
Ankub1 T C 3: 57,690,357 D64G probably damaging Het
Apobec2 C T 17: 48,423,275 W121* probably null Het
Arid2 A G 15: 96,371,318 N1104S probably benign Het
Brap T C 5: 121,665,093 probably benign Het
Cilp A C 9: 65,278,168 N515T probably benign Het
Cpeb2 T A 5: 43,261,724 probably benign Het
Creb1 C T 1: 64,576,215 T242I possibly damaging Het
Ddx60 T C 8: 61,988,083 V1062A possibly damaging Het
Dock8 A G 19: 25,155,948 E1153G probably benign Het
Gk5 A G 9: 96,176,292 probably benign Het
Gm5478 G T 15: 101,644,382 N60K probably benign Het
Hmcn2 T A 2: 31,362,230 V904D probably damaging Het
Hnmt T A 2: 24,048,739 H29L probably damaging Het
Igkv1-122 C A 6: 68,017,416 T96K probably damaging Het
Iyd T C 10: 3,551,987 I211T probably damaging Het
Kcnn1 G T 8: 70,850,737 H34N probably damaging Het
Krtap5-3 G T 7: 142,202,209 probably benign Het
Map3k19 C T 1: 127,824,315 R433K probably benign Het
Mss51 A C 14: 20,487,132 C89W probably damaging Het
Myh9 A T 15: 77,791,089 I276N probably damaging Het
Myof T C 19: 37,974,889 E420G probably damaging Het
Nfatc2ip C A 7: 126,390,568 V215L possibly damaging Het
Olfr1113 A T 2: 87,213,156 Y88F probably benign Het
Olfr631 T C 7: 103,929,594 M257T probably benign Het
Olfr73 G A 2: 88,034,410 A243V probably benign Het
Pcdhb4 T C 18: 37,308,516 I293T probably damaging Het
Pdcd6ip A G 9: 113,657,145 S729P possibly damaging Het
Pick1 C A 15: 79,245,301 H169N possibly damaging Het
Ppp4r4 A C 12: 103,581,384 K212T probably damaging Het
Racgap1 A G 15: 99,628,741 S314P probably damaging Het
Rasef C A 4: 73,734,483 E594* probably null Het
Ryr3 T G 2: 112,910,397 K522Q probably benign Het
Six5 T C 7: 19,097,147 probably benign Het
Slc26a9 G T 1: 131,763,877 E619D probably benign Het
Sqor A G 2: 122,808,071 I412V probably benign Het
Srrt T A 5: 137,296,117 probably benign Het
Sult1e1 C T 5: 87,578,616 R213K probably benign Het
Tmc2 T A 2: 130,240,130 L411H probably damaging Het
Tmem63b T A 17: 45,664,995 N511Y probably damaging Het
Ucp3 T A 7: 100,482,762 probably benign Het
Vmn1r201 A T 13: 22,474,804 I63F probably benign Het
Vps13c G T 9: 67,890,380 L522F probably damaging Het
Wwp1 T A 4: 19,678,408 T3S probably damaging Het
Zc3hav1 A G 6: 38,332,394 S498P probably benign Het
Other mutations in Hsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Hsf1 APN 15 76498203 missense probably benign 0.01
IGL01668:Hsf1 APN 15 76496962 critical splice donor site probably null
IGL01724:Hsf1 APN 15 76496837 missense possibly damaging 0.83
IGL02111:Hsf1 APN 15 76496081 splice site probably benign
IGL02503:Hsf1 APN 15 76498670 missense probably benign 0.03
R0350:Hsf1 UTSW 15 76500479 missense probably benign 0.00
R6906:Hsf1 UTSW 15 76477719 critical splice donor site probably null
R7170:Hsf1 UTSW 15 76500021 missense probably damaging 1.00
R7749:Hsf1 UTSW 15 76499187 missense probably benign 0.38
R7950:Hsf1 UTSW 15 76498193 missense probably benign
R8050:Hsf1 UTSW 15 76498281 missense probably benign 0.16
Posted On2016-08-02