Incidental Mutation 'IGL00965:Hsf2'
ID28403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf2
Ensembl Gene ENSMUSG00000019878
Gene Nameheat shock factor 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00965
Quality Score
Status
Chromosome10
Chromosomal Location57486385-57513135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57512100 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 447 (P447S)
Ref Sequence ENSEMBL: ENSMUSP00000152013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020027] [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]
Predicted Effect probably benign
Transcript: ENSMUST00000020027
SMART Domains Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877

DomainStartEndE-ValueType
Pfam:Serinc 16 451 9.5e-178 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079833
AA Change: P486S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: P486S

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 probably damaging
Transcript: ENSMUST00000220042
AA Change: P447S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220162
Predicted Effect probably benign
Transcript: ENSMUST00000220353
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 C T 2: 164,804,815 M1I probably null Het
Adam33 T C 2: 131,054,263 probably benign Het
Adgrl1 C T 8: 83,937,703 T1236I probably damaging Het
Ago4 A G 4: 126,493,314 V832A probably benign Het
Ankrd26 G T 6: 118,559,358 Y91* probably null Het
Atp9a C A 2: 168,640,680 V845L probably benign Het
Cfap100 C T 6: 90,415,805 E108K probably benign Het
Chrdl2 T A 7: 100,006,653 probably null Het
Erbb4 A T 1: 68,071,630 L1008* probably null Het
Fam92b T C 8: 120,166,690 Q254R probably benign Het
Gm42688 C T 6: 83,103,392 probably benign Het
H2-Eb2 T A 17: 34,325,797 probably null Het
Hmcn2 T C 2: 31,343,096 V219A probably damaging Het
Hsph1 A T 5: 149,630,804 I162N probably damaging Het
Ick A G 9: 78,164,539 I498V probably benign Het
Il12rb2 T C 6: 67,360,577 T107A probably damaging Het
Lnx1 T A 5: 74,685,717 N24I probably benign Het
Mgat3 C A 15: 80,212,433 A487D probably damaging Het
Olfr1416 T C 1: 92,480,024 D199G probably damaging Het
Olfr1564 C T 17: 33,215,973 V124M probably benign Het
Olfr629 T A 7: 103,740,965 I92F probably benign Het
Olfr808 T A 10: 129,767,586 L30Q probably null Het
Ppargc1b A G 18: 61,323,164 Y75H probably damaging Het
Rgl2 G T 17: 33,935,936 C638F probably benign Het
Rhpn1 C A 15: 75,711,886 R407S probably damaging Het
Sipa1l2 A G 8: 125,447,874 S1222P probably benign Het
Tango6 T A 8: 106,742,010 probably benign Het
Tonsl G A 15: 76,631,880 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn2r13 A C 5: 109,156,098 F822L probably damaging Het
Other mutations in Hsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Hsf2 APN 10 57512028 missense probably benign 0.00
IGL01338:Hsf2 APN 10 57501379 missense probably damaging 1.00
IGL01518:Hsf2 APN 10 57512134 missense probably damaging 1.00
IGL01721:Hsf2 APN 10 57496181 missense probably benign 0.13
IGL02219:Hsf2 APN 10 57496274 missense probably damaging 1.00
IGL03493:Hsf2 APN 10 57505366 missense probably damaging 1.00
R0270:Hsf2 UTSW 10 57502639 missense probably benign 0.28
R1774:Hsf2 UTSW 10 57512146 missense probably damaging 1.00
R2406:Hsf2 UTSW 10 57497546 missense probably damaging 0.96
R3410:Hsf2 UTSW 10 57505282 missense probably damaging 1.00
R4829:Hsf2 UTSW 10 57496170 missense probably damaging 0.96
R4958:Hsf2 UTSW 10 57501371 missense probably damaging 0.99
R5154:Hsf2 UTSW 10 57504712 missense probably benign
R5237:Hsf2 UTSW 10 57506221 missense probably benign 0.16
R5903:Hsf2 UTSW 10 57504723 missense probably benign
R6125:Hsf2 UTSW 10 57512005 missense probably benign
R6126:Hsf2 UTSW 10 57495917 missense probably damaging 1.00
R6280:Hsf2 UTSW 10 57511495 missense probably benign 0.03
R6309:Hsf2 UTSW 10 57486580 start gained probably benign
R6954:Hsf2 UTSW 10 57504643 missense probably damaging 1.00
R6966:Hsf2 UTSW 10 57495984 missense probably damaging 1.00
R7088:Hsf2 UTSW 10 57512092 missense probably damaging 1.00
R7182:Hsf2 UTSW 10 57505176 missense possibly damaging 0.87
R7511:Hsf2 UTSW 10 57504557 missense probably benign 0.00
R7743:Hsf2 UTSW 10 57511335 intron probably null
R8176:Hsf2 UTSW 10 57505194 nonsense probably null
R8301:Hsf2 UTSW 10 57505346 missense probably damaging 1.00
Z1088:Hsf2 UTSW 10 57496168 missense probably damaging 1.00
Posted On2013-04-17