Incidental Mutation 'R4790:Hsf4'
ID 368459
Institutional Source Beutler Lab
Gene Symbol Hsf4
Ensembl Gene ENSMUSG00000033249
Gene Name heat shock transcription factor 4
Synonyms ldis1
MMRRC Submission 042418-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4790 (G1)
Quality Score 177
Status Not validated
Chromosome 8
Chromosomal Location 105996433-106002477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105997237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 61 (Q61L)
Ref Sequence ENSEMBL: ENSMUSP00000134213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036127] [ENSMUST00000036221] [ENSMUST00000126923] [ENSMUST00000163734] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000173859] [ENSMUST00000173640] [ENSMUST00000174837]
AlphaFold Q9R0L1
Predicted Effect probably damaging
Transcript: ENSMUST00000036127
AA Change: Q61L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: Q61L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 383 8e-88 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000036221
SMART Domains Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313

DomainStartEndE-ValueType
FBOX 8 48 2.72e-6 SMART
low complexity region 102 113 N/A INTRINSIC
low complexity region 252 263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126923
SMART Domains Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313

DomainStartEndE-ValueType
FBOX 8 48 2.72e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163734
SMART Domains Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249

DomainStartEndE-ValueType
HSF 9 60 1.43e-1 SMART
Blast:HSF 99 323 2e-88 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172525
AA Change: Q61L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
AA Change: Q61L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 243 3e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173102
Predicted Effect probably damaging
Transcript: ENSMUST00000173859
AA Change: Q61L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: Q61L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 353 1e-46 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000173640
AA Change: Q61L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
AA Change: Q61L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 284 1e-50 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000174837
AA Change: Q61L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: Q61L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 290 3e-50 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal lens morphology and cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,202,236 (GRCm39) T390P possibly damaging Het
Acss3 A T 10: 106,859,563 (GRCm39) Y345* probably null Het
Adam26b A T 8: 43,973,764 (GRCm39) S413T probably benign Het
Angpt2 T A 8: 18,764,098 (GRCm39) Q148L probably damaging Het
Ank3 T A 10: 69,823,981 (GRCm39) Y883* probably null Het
Ankrd52 A G 10: 128,216,814 (GRCm39) K190E possibly damaging Het
Anks1b A G 10: 89,999,137 (GRCm39) R415G probably damaging Het
Ano3 T A 2: 110,715,264 (GRCm39) Q58L probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Arhgap39 A T 15: 76,610,931 (GRCm39) M924K possibly damaging Het
AU040320 A G 4: 126,741,008 (GRCm39) M910V possibly damaging Het
BC051019 T A 7: 109,315,553 (GRCm39) H86L probably benign Het
C1qbp G A 11: 70,870,856 (GRCm39) Q151* probably null Het
C4b G T 17: 34,953,117 (GRCm39) D1069E probably benign Het
Casp1 C T 9: 5,303,020 (GRCm39) T158I probably benign Het
Casq1 T C 1: 172,044,404 (GRCm39) D141G probably damaging Het
Ccdc33 T A 9: 57,937,240 (GRCm39) E653V probably damaging Het
Cd180 C T 13: 102,839,330 (GRCm39) T71M probably damaging Het
Cdk4 T C 10: 126,900,570 (GRCm39) L112P probably damaging Het
Celf2 A G 2: 6,554,714 (GRCm39) F425S probably damaging Het
Chrm3 A T 13: 9,927,698 (GRCm39) V446E probably benign Het
Chst9 A T 18: 15,586,107 (GRCm39) L152H probably damaging Het
Cib2 A G 9: 54,457,087 (GRCm39) probably null Het
Clec18a T C 8: 111,798,717 (GRCm39) S366G probably damaging Het
Crebbp A G 16: 3,997,983 (GRCm39) F34L probably damaging Het
Dapk1 AT A 13: 60,870,919 (GRCm39) probably null Het
Ddi1 T A 9: 6,265,761 (GRCm39) M203L probably benign Het
Ddx20 G T 3: 105,590,485 (GRCm39) S270R probably benign Het
Eddm13 A T 7: 6,269,317 (GRCm39) K31* probably null Het
Espnl A T 1: 91,272,146 (GRCm39) E458V probably damaging Het
Fat3 T C 9: 15,909,780 (GRCm39) D2074G probably damaging Het
Fcf1 A G 12: 85,020,902 (GRCm39) T61A probably benign Het
Fkbp15 T C 4: 62,226,234 (GRCm39) R772G probably benign Het
Flnb T C 14: 7,905,661 (GRCm38) V1137A probably benign Het
Fosb C A 7: 19,043,313 (GRCm39) C15F probably damaging Het
Frem2 A T 3: 53,424,162 (GRCm39) W3092R probably benign Het
Gm3248 T C 14: 5,945,831 (GRCm38) I28V probably damaging Het
Gm4922 G T 10: 18,659,916 (GRCm39) L269I possibly damaging Het
Gucy2e G A 11: 69,119,274 (GRCm39) R627W probably damaging Het
Hephl1 T A 9: 14,970,467 (GRCm39) E1009V probably damaging Het
Itgam T A 7: 127,715,445 (GRCm39) N1046K probably benign Het
Itgav G A 2: 83,586,154 (GRCm39) C138Y probably damaging Het
Itih4 A T 14: 30,611,867 (GRCm39) Y157F probably damaging Het
Kcnt2 C T 1: 140,282,254 (GRCm39) R80C probably damaging Het
Kdm4b G A 17: 56,708,618 (GRCm39) V986M probably damaging Het
Lamb3 T A 1: 193,022,194 (GRCm39) V1014D probably damaging Het
Lrrc74b G T 16: 17,367,717 (GRCm39) N282K probably damaging Het
Map3k20 T A 2: 72,272,048 (GRCm39) H725Q probably benign Het
Mink1 A G 11: 70,489,867 (GRCm39) N81S probably damaging Het
Mmp21 A G 7: 133,276,759 (GRCm39) Y415H probably damaging Het
Mycbp2 A T 14: 103,466,873 (GRCm39) W1297R probably damaging Het
Myh8 T C 11: 67,170,789 (GRCm39) M95T probably damaging Het
Myo7b A T 18: 32,133,158 (GRCm39) probably null Het
Nanog A G 6: 122,684,874 (GRCm39) M20V probably benign Het
Ncapd3 A G 9: 26,963,146 (GRCm39) I484V probably benign Het
Ndufa12 A T 10: 94,056,620 (GRCm39) N116I probably benign Het
Nedd4l A G 18: 65,337,016 (GRCm39) I668V possibly damaging Het
Nhsl3 C A 4: 129,117,095 (GRCm39) R523L probably damaging Het
Nobox T C 6: 43,282,480 (GRCm39) D309G probably benign Het
Npnt A G 3: 132,596,523 (GRCm39) probably benign Het
Nrxn1 A C 17: 90,762,477 (GRCm39) Y2D possibly damaging Het
Obox6 G T 7: 15,568,502 (GRCm39) P125T possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14j8 T C 17: 38,263,633 (GRCm39) Y94C probably damaging Het
Or2ag15 C G 7: 106,340,998 (GRCm39) V48L probably benign Het
Or4s2b T A 2: 88,508,731 (GRCm39) N177K possibly damaging Het
Or56a3 T C 7: 104,735,844 (GRCm39) probably benign Het
Or5ac20 A T 16: 59,104,821 (GRCm39) V13D probably damaging Het
Or5an10 A G 19: 12,276,305 (GRCm39) Y64H possibly damaging Het
Or8k32 T C 2: 86,369,224 (GRCm39) T10A possibly damaging Het
Osm A T 11: 4,188,435 (GRCm39) M21L probably benign Het
Otogl T A 10: 107,657,894 (GRCm39) probably null Het
Otud4 T G 8: 80,393,402 (GRCm39) S493A possibly damaging Het
Pars2 A G 4: 106,508,308 (GRCm39) probably benign Het
Phlda3 T A 1: 135,694,557 (GRCm39) V124E possibly damaging Het
Pias4 T C 10: 80,993,326 (GRCm39) D199G probably damaging Het
Pm20d1 T C 1: 131,739,777 (GRCm39) L375P probably benign Het
Pole2 T C 12: 69,273,139 (GRCm39) I48V probably benign Het
Prrc2c T C 1: 162,538,050 (GRCm39) R527G unknown Het
Rasgrf2 G T 13: 92,136,135 (GRCm39) N592K probably damaging Het
Rbm7 A G 9: 48,406,474 (GRCm39) L26P probably damaging Het
Rhag A G 17: 41,142,181 (GRCm39) H208R probably benign Het
Rnf17 A G 14: 56,671,812 (GRCm39) E268G probably damaging Het
Rnf220 A G 4: 117,146,252 (GRCm39) V23A probably benign Het
Rnf7 A T 9: 96,360,472 (GRCm39) V55D probably damaging Het
Sdr9c7 C A 10: 127,739,448 (GRCm39) R188S possibly damaging Het
Senp6 T A 9: 79,997,140 (GRCm39) N51K probably benign Het
Skint3 C A 4: 112,113,095 (GRCm39) T235K possibly damaging Het
Slc10a5 A G 3: 10,400,096 (GRCm39) F188S probably damaging Het
Slc41a1 G A 1: 131,758,690 (GRCm39) G111R probably damaging Het
Smarca1 T C X: 46,972,944 (GRCm39) D132G probably null Het
Snrnp48 C T 13: 38,405,299 (GRCm39) R299W probably damaging Het
Sspo G A 6: 48,437,705 (GRCm39) G1413D probably benign Het
Star T A 8: 26,298,644 (GRCm39) H16Q probably damaging Het
Strc T C 2: 121,206,075 (GRCm39) D779G probably benign Het
Sulf2 T C 2: 165,931,215 (GRCm39) Y264C probably damaging Het
Supt7l A G 5: 31,680,248 (GRCm39) S6P possibly damaging Het
Syne2 A G 12: 76,067,165 (GRCm39) D4289G probably benign Het
Szrd1 A T 4: 140,867,001 (GRCm39) probably null Het
Tada1 T C 1: 166,219,523 (GRCm39) V275A possibly damaging Het
Tbr1 A T 2: 61,641,932 (GRCm39) Y136F probably benign Het
Tbx20 T A 9: 24,637,010 (GRCm39) H359L probably benign Het
Thbs4 G T 13: 92,899,314 (GRCm39) D560E probably damaging Het
Tnfsf14 T C 17: 57,497,740 (GRCm39) H164R probably damaging Het
Trmu T C 15: 85,767,006 (GRCm39) S72P probably damaging Het
Tsnaxip1 C A 8: 106,560,155 (GRCm39) Q36K probably benign Het
Ttc28 T A 5: 111,372,083 (GRCm39) M844K possibly damaging Het
Tubgcp2 T C 7: 139,579,201 (GRCm39) Y695C probably damaging Het
Ugt1a10 T A 1: 87,984,009 (GRCm39) M269K probably damaging Het
Urb1 A T 16: 90,566,443 (GRCm39) L1448* probably null Het
Vmn2r124 A T 17: 18,269,855 (GRCm39) H37L probably damaging Het
Vmn2r44 T C 7: 8,370,949 (GRCm39) N699S probably damaging Het
Vps35 A T 8: 86,005,486 (GRCm39) probably null Het
Yipf1 G T 4: 107,193,396 (GRCm39) probably null Het
Zfp395 A G 14: 65,623,990 (GRCm39) N153S possibly damaging Het
Zfp395 A G 14: 65,630,656 (GRCm39) D402G probably damaging Het
Zfp652 T C 11: 95,640,435 (GRCm39) V120A probably damaging Het
Zp3r T C 1: 130,510,629 (GRCm39) I364M probably damaging Het
Other mutations in Hsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Hsf4 APN 8 106,002,289 (GRCm39) makesense probably null
IGL01702:Hsf4 APN 8 105,998,221 (GRCm39) missense probably damaging 1.00
IGL02040:Hsf4 APN 8 106,002,299 (GRCm39) unclassified probably benign
R0115:Hsf4 UTSW 8 105,999,336 (GRCm39) critical splice acceptor site probably null
R0449:Hsf4 UTSW 8 106,002,222 (GRCm39) missense probably benign 0.04
R0585:Hsf4 UTSW 8 105,997,663 (GRCm39) missense probably damaging 1.00
R1365:Hsf4 UTSW 8 105,997,726 (GRCm39) missense probably damaging 0.99
R1401:Hsf4 UTSW 8 106,002,235 (GRCm39) missense probably benign
R2276:Hsf4 UTSW 8 105,996,628 (GRCm39) missense probably null 0.91
R2278:Hsf4 UTSW 8 105,996,628 (GRCm39) missense probably null 0.91
R3848:Hsf4 UTSW 8 105,997,469 (GRCm39) missense probably damaging 1.00
R3850:Hsf4 UTSW 8 105,997,469 (GRCm39) missense probably damaging 1.00
R4240:Hsf4 UTSW 8 106,001,513 (GRCm39) missense possibly damaging 0.58
R4781:Hsf4 UTSW 8 106,001,384 (GRCm39) critical splice donor site probably null
R4917:Hsf4 UTSW 8 105,999,367 (GRCm39) missense probably benign 0.00
R4918:Hsf4 UTSW 8 105,999,367 (GRCm39) missense probably benign 0.00
R4930:Hsf4 UTSW 8 105,999,330 (GRCm39) splice site probably null
R5110:Hsf4 UTSW 8 105,999,427 (GRCm39) missense probably benign 0.01
R5189:Hsf4 UTSW 8 105,998,060 (GRCm39) frame shift probably null
R6001:Hsf4 UTSW 8 105,999,541 (GRCm39) missense possibly damaging 0.70
R6167:Hsf4 UTSW 8 105,997,481 (GRCm39) missense probably damaging 1.00
R6802:Hsf4 UTSW 8 106,001,300 (GRCm39) missense probably damaging 1.00
R7231:Hsf4 UTSW 8 105,998,779 (GRCm39) missense probably damaging 1.00
R8720:Hsf4 UTSW 8 105,996,605 (GRCm39) missense probably damaging 1.00
R8856:Hsf4 UTSW 8 105,996,628 (GRCm39) missense probably null 0.00
R9168:Hsf4 UTSW 8 105,999,373 (GRCm39) missense probably benign 0.32
R9603:Hsf4 UTSW 8 105,999,435 (GRCm39) missense probably damaging 0.99
R9782:Hsf4 UTSW 8 105,999,217 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCCAATGAGGTACAAATCTGGAC -3'
(R):5'- ATGCTGAAACTCAACGTGGTC -3'

Sequencing Primer
(F):5'- TGGACCCCCACAGTGAGTATG -3'
(R):5'- AGGCCACCTTGCTCGATG -3'
Posted On 2016-02-04