Incidental Mutation 'IGL01518:Hsf2'
ID 89369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf2
Ensembl Gene ENSMUSG00000019878
Gene Name heat shock factor 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01518
Quality Score
Status
Chromosome 10
Chromosomal Location 57362481-57389231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57388230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 458 (L458P)
Ref Sequence ENSEMBL: ENSMUSP00000152013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020027] [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]
AlphaFold no structure available at present
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: L497P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: L497P

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: L458P

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 65,347,660 (GRCm39) V16G unknown Het
4933427I04Rik A T 4: 123,754,494 (GRCm39) E136V probably benign Het
Aadac A G 3: 59,943,320 (GRCm39) D75G probably damaging Het
Arfgap1 T A 2: 180,614,518 (GRCm39) S125T probably benign Het
Atxn2 G T 5: 121,949,042 (GRCm39) A813S probably damaging Het
Cadps C A 14: 12,522,352 (GRCm38) S604I probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col4a4 T A 1: 82,433,480 (GRCm39) M1488L unknown Het
Fndc3c1 T C X: 105,475,029 (GRCm39) N941S probably damaging Het
Fryl T C 5: 73,244,305 (GRCm39) Y1172C possibly damaging Het
Gm1527 T C 3: 28,949,737 (GRCm39) probably benign Het
Il2 T C 3: 37,177,156 (GRCm39) T127A possibly damaging Het
Inpp5e A G 2: 26,287,946 (GRCm39) Y617H probably damaging Het
Isoc2b G A 7: 4,853,763 (GRCm39) S137F probably damaging Het
Map2 C T 1: 66,464,490 (GRCm39) P241S probably damaging Het
Mfsd6 C A 1: 52,748,481 (GRCm39) R128L probably damaging Het
Mrnip A G 11: 50,088,462 (GRCm39) T153A probably damaging Het
Or4x6 A G 2: 89,949,315 (GRCm39) F209S possibly damaging Het
Or8d1 A T 9: 38,767,095 (GRCm39) M246L probably benign Het
Pi4ka T C 16: 17,098,599 (GRCm39) N2022S probably benign Het
Scrt2 C A 2: 151,935,560 (GRCm39) R238S probably damaging Het
St3gal6 T A 16: 58,305,138 (GRCm39) D108V probably benign Het
Tmem132b C T 5: 125,855,855 (GRCm39) T529M probably damaging Het
Trappc11 T C 8: 47,954,904 (GRCm39) probably null Het
Tspyl1 T A 10: 34,159,195 (GRCm39) S307T possibly damaging Het
Ush2a A G 1: 188,131,982 (GRCm39) S735G probably benign Het
Wnk2 T C 13: 49,221,668 (GRCm39) M1186V possibly damaging Het
Other mutations in Hsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Hsf2 APN 10 57,388,124 (GRCm39) missense probably benign 0.00
IGL00965:Hsf2 APN 10 57,388,196 (GRCm39) missense probably damaging 1.00
IGL01338:Hsf2 APN 10 57,377,475 (GRCm39) missense probably damaging 1.00
IGL01721:Hsf2 APN 10 57,372,277 (GRCm39) missense probably benign 0.13
IGL02219:Hsf2 APN 10 57,372,370 (GRCm39) missense probably damaging 1.00
IGL03493:Hsf2 APN 10 57,381,462 (GRCm39) missense probably damaging 1.00
G1Funyon:Hsf2 UTSW 10 57,381,442 (GRCm39) missense probably damaging 1.00
R0270:Hsf2 UTSW 10 57,378,735 (GRCm39) missense probably benign 0.28
R1774:Hsf2 UTSW 10 57,388,242 (GRCm39) missense probably damaging 1.00
R2406:Hsf2 UTSW 10 57,373,642 (GRCm39) missense probably damaging 0.96
R3410:Hsf2 UTSW 10 57,381,378 (GRCm39) missense probably damaging 1.00
R4829:Hsf2 UTSW 10 57,372,266 (GRCm39) missense probably damaging 0.96
R4958:Hsf2 UTSW 10 57,377,467 (GRCm39) missense probably damaging 0.99
R5154:Hsf2 UTSW 10 57,380,808 (GRCm39) missense probably benign
R5237:Hsf2 UTSW 10 57,382,317 (GRCm39) missense probably benign 0.16
R5903:Hsf2 UTSW 10 57,380,819 (GRCm39) missense probably benign
R6125:Hsf2 UTSW 10 57,388,101 (GRCm39) missense probably benign
R6126:Hsf2 UTSW 10 57,372,013 (GRCm39) missense probably damaging 1.00
R6280:Hsf2 UTSW 10 57,387,591 (GRCm39) missense probably benign 0.03
R6309:Hsf2 UTSW 10 57,362,676 (GRCm39) start gained probably benign
R6954:Hsf2 UTSW 10 57,380,739 (GRCm39) missense probably damaging 1.00
R6966:Hsf2 UTSW 10 57,372,080 (GRCm39) missense probably damaging 1.00
R7088:Hsf2 UTSW 10 57,388,188 (GRCm39) missense probably damaging 1.00
R7182:Hsf2 UTSW 10 57,381,272 (GRCm39) missense possibly damaging 0.87
R7511:Hsf2 UTSW 10 57,380,653 (GRCm39) missense probably benign 0.00
R7743:Hsf2 UTSW 10 57,387,431 (GRCm39) splice site probably null
R8176:Hsf2 UTSW 10 57,381,290 (GRCm39) nonsense probably null
R8301:Hsf2 UTSW 10 57,381,442 (GRCm39) missense probably damaging 1.00
R8368:Hsf2 UTSW 10 57,388,241 (GRCm39) missense probably damaging 1.00
R8682:Hsf2 UTSW 10 57,381,267 (GRCm39) missense possibly damaging 0.94
R9506:Hsf2 UTSW 10 57,381,241 (GRCm39) critical splice acceptor site probably null
R9520:Hsf2 UTSW 10 57,371,996 (GRCm39) missense probably damaging 0.99
Z1088:Hsf2 UTSW 10 57,372,264 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03