Incidental Mutation 'R8752:Hsf1'
ID 663938
Institutional Source Beutler Lab
Gene Symbol Hsf1
Ensembl Gene ENSMUSG00000022556
Gene Name heat shock factor 1
Synonyms heat shock transcription factor 1
MMRRC Submission 068595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8752 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76361562-76385355 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 76384344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 417 (S417*)
Ref Sequence ENSEMBL: ENSMUSP00000154602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000226860] [ENSMUST00000226872] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000228868] [ENSMUST00000229363]
AlphaFold P38532
Predicted Effect probably benign
Transcript: ENSMUST00000023214
SMART Domains Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
low complexity region 41 57 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
Pfam:MBOAT 162 485 8.4e-64 PFAM
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 null
Transcript: ENSMUST00000226238
AA Change: S143*
Predicted Effect probably benign
Transcript: ENSMUST00000226860
Predicted Effect probably benign
Transcript: ENSMUST00000226872
Predicted Effect probably null
Transcript: ENSMUST00000227478
AA Change: S417*
Predicted Effect probably benign
Transcript: ENSMUST00000228371
Predicted Effect probably null
Transcript: ENSMUST00000228688
AA Change: S34*
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Meta Mutation Damage Score 0.9757 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,704,396 (GRCm39) K82R probably damaging Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Adam29 A T 8: 56,325,328 (GRCm39) C375* probably null Het
Adat2 A T 10: 13,432,604 (GRCm39) E35D probably benign Het
Afm A C 5: 90,700,424 (GRCm39) E600D probably benign Het
Ahnak T A 19: 8,992,901 (GRCm39) D4728E probably damaging Het
Ak7 AAGGAG AAG 12: 105,713,476 (GRCm39) probably benign Het
Ankrd28 C A 14: 31,477,699 (GRCm39) probably benign Het
Ankrd31 A T 13: 96,916,879 (GRCm39) H131L probably damaging Het
Ano5 T C 7: 51,196,617 (GRCm39) F183L probably damaging Het
Asah1 G A 8: 41,813,314 (GRCm39) S33L possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc47 A G 11: 106,095,818 (GRCm39) Y293H probably damaging Het
Cd302 A G 2: 60,102,529 (GRCm39) F30S probably damaging Het
Ces1c C G 8: 93,846,964 (GRCm39) A243P probably damaging Het
Deptor A T 15: 55,044,280 (GRCm39) T149S probably benign Het
Dnah14 G A 1: 181,455,581 (GRCm39) R902H probably benign Het
Dnah5 A G 15: 28,290,365 (GRCm39) I1252V probably benign Het
Dnah7c A G 1: 46,711,701 (GRCm39) I2643V probably benign Het
Dnajc4 C T 19: 6,966,801 (GRCm39) V177I probably benign Het
Efhc1 A T 1: 21,059,692 (GRCm39) N581Y probably benign Het
Espl1 A G 15: 102,214,759 (GRCm39) T767A probably damaging Het
Etv6 A G 6: 134,243,391 (GRCm39) E382G probably benign Het
Foxd4 A T 19: 24,878,094 (GRCm39) D35E probably damaging Het
Gata2 T C 6: 88,177,513 (GRCm39) V181A possibly damaging Het
Gm5114 A T 7: 39,057,927 (GRCm39) M564K probably damaging Het
Gpr45 A T 1: 43,071,842 (GRCm39) I162F possibly damaging Het
Hic1 A G 11: 75,060,206 (GRCm39) F47S probably benign Het
Id4 A T 13: 48,415,065 (GRCm39) H31L possibly damaging Het
Il12rb2 T C 6: 67,328,265 (GRCm39) S322G probably damaging Het
Lcn11 T C 2: 25,668,138 (GRCm39) Y99H probably damaging Het
Mipol1 G A 12: 57,372,367 (GRCm39) R142Q probably damaging Het
Mpp2 A G 11: 101,976,129 (GRCm39) S10P probably benign Het
Muc15 A T 2: 110,561,758 (GRCm39) N65Y possibly damaging Het
Nav3 T C 10: 109,596,165 (GRCm39) probably benign Het
Ndst3 C T 3: 123,342,684 (GRCm39) R709Q probably damaging Het
Nek11 G T 9: 105,225,207 (GRCm39) Q102K probably benign Het
Nhsl1 A G 10: 18,407,113 (GRCm39) N1416D probably benign Het
Or13p3 A C 4: 118,567,083 (GRCm39) T160P probably damaging Het
Or2v1 T A 11: 49,025,505 (GRCm39) V162E possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or5p72 T C 7: 108,022,480 (GRCm39) I234T probably benign Het
Or5w20 T C 2: 87,726,591 (GRCm39) I16T possibly damaging Het
Parp4 G T 14: 56,886,073 (GRCm39) E1717D unknown Het
Pla2g4d A T 2: 120,099,248 (GRCm39) probably null Het
Pramel52-ps A T 5: 94,529,354 (GRCm39) R41S possibly damaging Het
Psmc2 A G 5: 22,001,533 (GRCm39) I107V probably benign Het
Rhod G T 19: 4,476,121 (GRCm39) T210N probably damaging Het
Setx A T 2: 29,048,992 (GRCm39) D2006V probably damaging Het
Sfpq T A 4: 126,919,969 (GRCm39) M541K possibly damaging Het
Sorbs1 C T 19: 40,349,872 (GRCm39) probably null Het
Sv2b C A 7: 74,855,842 (GRCm39) M149I possibly damaging Het
Svil T A 18: 5,060,366 (GRCm39) probably benign Het
Vmn1r216 G T 13: 23,283,880 (GRCm39) V188F probably damaging Het
Vmn2r27 A G 6: 124,201,018 (GRCm39) F313S probably benign Het
Vmn2r44 A G 7: 8,370,805 (GRCm39) F747S probably damaging Het
Vmn2r95 T C 17: 18,661,738 (GRCm39) S495P probably damaging Het
Xpo5 C T 17: 46,547,838 (GRCm39) probably benign Het
Zscan20 A C 4: 128,479,480 (GRCm39) C1004G probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACGAGCTAAGTGATCACCTG -3'
(R):5'- GCTTAGCTCTCACCTGAGTC -3'

Sequencing Primer
(F):5'- CTAAGTGATCACCTGGATGCCATG -3'
(R):5'- TCTCACCTGAGTCGGGGTTAC -3'
Posted On 2021-03-08