Incidental Mutation 'R5154:Hsf2'
ID396587
Institutional Source Beutler Lab
Gene Symbol Hsf2
Ensembl Gene ENSMUSG00000019878
Gene Nameheat shock factor 2
Synonyms
MMRRC Submission 042736-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5154 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location57486385-57513135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 57504712 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 214 (V214G)
Ref Sequence ENSEMBL: ENSMUSP00000152013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]
Predicted Effect probably benign
Transcript: ENSMUST00000079833
AA Change: V271G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: V271G

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 noncoding transcript
Transcript: ENSMUST00000218251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219171
Predicted Effect probably benign
Transcript: ENSMUST00000220042
AA Change: V214G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220353
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,938 H48P probably damaging Het
Angptl7 C T 4: 148,497,425 R168H probably damaging Het
Ankrd11 A C 8: 122,893,139 F1325V probably damaging Het
Ankrd13c A G 3: 157,988,660 D266G possibly damaging Het
Apold1 A T 6: 134,983,673 H30L possibly damaging Het
Arel1 A G 12: 84,931,773 F362L probably benign Het
Arhgef4 T A 1: 34,732,374 M1254K probably benign Het
Arid2 T A 15: 96,401,985 V1793E probably damaging Het
Bcl7a T C 5: 123,369,359 S156P probably damaging Het
Cbr3 A G 16: 93,685,139 I128V probably benign Het
Cct6b G A 11: 82,739,695 P299L probably damaging Het
Cd180 A T 13: 102,705,774 N443Y probably damaging Het
Cd80 A G 16: 38,473,980 K75R probably benign Het
Cdk1 A T 10: 69,340,468 probably benign Het
Cep192 T A 18: 67,850,684 F1565I probably damaging Het
Chtf18 T C 17: 25,723,720 T412A probably damaging Het
Cit T C 5: 115,988,405 L1590P probably damaging Het
Clcn2 T A 16: 20,703,303 R845S probably benign Het
Cndp2 C T 18: 84,668,602 V432I probably benign Het
Cnnm2 A T 19: 46,763,132 R454W probably benign Het
Cpne8 T G 15: 90,499,918 I480L probably benign Het
Cr2 A G 1: 195,159,446 W400R probably damaging Het
Cul5 A G 9: 53,625,867 L528P probably damaging Het
Dlgap5 C T 14: 47,413,720 V119M probably damaging Het
Dnah12 T C 14: 26,849,363 S190P probably benign Het
Dnah3 T A 7: 119,952,419 K2881N probably damaging Het
Dnmt3a A T 12: 3,896,008 I288F probably damaging Het
Dse T A 10: 34,153,661 T478S possibly damaging Het
Edn1 C T 13: 42,305,023 T104I probably benign Het
Eef2 GCCC GCCCC 10: 81,178,767 probably null Het
Eprs A G 1: 185,413,465 H1157R probably damaging Het
Fam168b G A 1: 34,818,099 T179I possibly damaging Het
Fzd5 A G 1: 64,735,972 V210A probably benign Het
Gm9742 T C 13: 8,035,045 noncoding transcript Het
Gpc1 G A 1: 92,857,029 G308D probably damaging Het
Gpr141 C T 13: 19,752,242 R121K probably benign Het
Greb1l A G 18: 10,458,312 T30A probably benign Het
Grk3 A T 5: 112,941,717 I281N probably damaging Het
Hnrnpdl A T 5: 100,036,512 Y289* probably null Het
Igf2bp1 G A 11: 95,963,547 Q563* probably null Het
Il31ra T A 13: 112,523,997 D605V possibly damaging Het
Insm2 G A 12: 55,600,197 C242Y probably damaging Het
Ints3 C T 3: 90,415,561 V121I probably benign Het
Kcnt2 A T 1: 140,351,256 L48F possibly damaging Het
Kit G A 5: 75,640,540 V529M probably damaging Het
Mark2 G A 19: 7,283,074 P13S probably damaging Het
Mthfsd A G 8: 121,098,740 V364A probably damaging Het
Mtmr11 C G 3: 96,164,319 S185R probably benign Het
Myot A G 18: 44,354,214 I373V probably benign Het
N4bp3 A T 11: 51,645,312 V231D probably benign Het
Olfr1089 A T 2: 86,732,777 Y278* probably null Het
Olfr1102 T C 2: 87,002,038 V23A probably benign Het
Pdcd6ip A G 9: 113,691,542 F125L probably damaging Het
Prpf39 A T 12: 65,048,277 Q124L probably benign Het
Reln A T 5: 21,988,765 N1398K probably damaging Het
Rhod A T 19: 4,432,094 D97E probably damaging Het
Rxra T C 2: 27,757,868 probably null Het
Slc1a3 T C 15: 8,642,949 I349V probably benign Het
Slc37a2 A T 9: 37,231,643 *502R probably null Het
Slc9b1 T C 3: 135,373,179 I199T probably damaging Het
Spg20 C T 3: 55,117,329 P115L probably damaging Het
Tnpo1 A T 13: 98,870,305 C205S possibly damaging Het
Tubb1 T A 2: 174,456,864 I113N probably benign Het
Tyrp1 G A 4: 80,850,717 V483I probably benign Het
Vwde T C 6: 13,215,758 S100G probably benign Het
Zfhx3 A T 8: 108,800,575 I1035F probably damaging Het
Zfp618 G T 4: 63,133,209 K742N probably damaging Het
Zfp873 T C 10: 82,060,191 V252A possibly damaging Het
Other mutations in Hsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Hsf2 APN 10 57512028 missense probably benign 0.00
IGL00965:Hsf2 APN 10 57512100 missense probably damaging 1.00
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
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
Z1088:Hsf2 UTSW 10 57496168 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGGGTATGTCATTCATCTTCAG -3'
(R):5'- GGTAGTTATCTGGGTCAATAATTCC -3'

Sequencing Primer
(F):5'- GACTGAGGACAAGCAGTTTTGTTTAC -3'
(R):5'- TCTGGGTCAATAATTCCAAATATGTG -3'
Posted On2016-06-21