Incidental Mutation 'R3848:Hsf4'
ID 275766
Institutional Source Beutler Lab
Gene Symbol Hsf4
Ensembl Gene ENSMUSG00000033249
Gene Name heat shock transcription factor 4
Synonyms ldis1
MMRRC Submission 040896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3848 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105996433-106002477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105997469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 101 (F101L)
Ref Sequence ENSEMBL: ENSMUSP00000134477 (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: F101L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: F101L

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 damaging
Transcript: ENSMUST00000163734
AA Change: F41L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: F41L

DomainStartEndE-ValueType
HSF 9 60 1.43e-1 SMART
Blast:HSF 99 323 2e-88 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172525
AA Change: F101L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
AA Change: F101L

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: F101L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: F101L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 353 1e-46 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000173640
AA Change: F101L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
AA Change: F101L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 284 1e-50 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000174837
AA Change: F101L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: F101L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 290 3e-50 BLAST
Meta Mutation Damage Score 0.9300 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Adgrv1 A G 13: 81,588,191 (GRCm39) V4465A probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Anxa2 G T 9: 69,374,624 (GRCm39) D34Y probably damaging Het
Asic1 A G 15: 99,570,814 (GRCm39) N143S probably benign Het
Catsperb A C 12: 101,475,585 (GRCm39) Q376H probably damaging Het
Cd72 T C 4: 43,452,525 (GRCm39) E132G possibly damaging Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Col15a1 T C 4: 47,289,374 (GRCm39) V48A possibly damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpeb2 T G 5: 43,394,788 (GRCm39) S64A probably damaging Het
Cplx3 G A 9: 57,515,600 (GRCm39) A425V possibly damaging Het
Ctsc A G 7: 87,958,818 (GRCm39) H366R probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Efhb A T 17: 53,734,024 (GRCm39) probably benign Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Fbxo38 G A 18: 62,648,144 (GRCm39) S798F possibly damaging Het
Fggy T C 4: 95,489,361 (GRCm39) probably benign Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Hoxd8 A G 2: 74,535,929 (GRCm39) Y13C possibly damaging Het
Jph2 G A 2: 163,181,332 (GRCm39) P611S probably benign Het
Kifbp A G 10: 62,405,249 (GRCm39) Y64H probably damaging Het
Kndc1 T C 7: 139,488,893 (GRCm39) S183P probably damaging Het
L3mbtl1 A G 2: 162,790,121 (GRCm39) E132G probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrpprc T C 17: 85,078,355 (GRCm39) I308V probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Or51v8 A G 7: 103,319,908 (GRCm39) V110A probably damaging Het
Or52e8b A G 7: 104,673,539 (GRCm39) V216A probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Orc2 T C 1: 58,520,151 (GRCm39) T225A probably benign Het
P2ry1 G A 3: 60,910,880 (GRCm39) W6* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pigt G A 2: 164,340,500 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,963,785 (GRCm39) C71* probably null Het
Plcxd2 T C 16: 45,792,629 (GRCm39) T237A probably damaging Het
Pnrc1 T C 4: 33,246,252 (GRCm39) K236E probably damaging Het
Ppargc1b T A 18: 61,444,113 (GRCm39) D350V probably damaging Het
Rapgef6 T C 11: 54,582,134 (GRCm39) S1349P probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Sell A T 1: 163,893,230 (GRCm39) K149* probably null Het
Sidt1 A G 16: 44,076,322 (GRCm39) probably benign Het
Slc6a5 C G 7: 49,577,306 (GRCm39) probably benign Het
Slc7a14 A T 3: 31,291,623 (GRCm39) N218K probably damaging Het
Spice1 C T 16: 44,199,254 (GRCm39) R569* probably null Het
Stk35 G T 2: 129,642,656 (GRCm39) A66S probably benign Het
Tmem245 A G 4: 56,926,298 (GRCm39) probably benign Het
Tnxb A C 17: 34,909,369 (GRCm39) R1632S possibly damaging Het
Ttc6 G A 12: 57,723,932 (GRCm39) R1020H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Vmn2r15 A T 5: 109,445,312 (GRCm39) D37E probably benign Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G 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
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
R4790:Hsf4 UTSW 8 105,997,237 (GRCm39) missense probably damaging 1.00
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'- TGTGAGTCCCTTTGCCAAGC -3'
(R):5'- AAAGCTTGCACCTCTCCCAG -3'

Sequencing Primer
(F):5'- CTTTGCCAAGCGGGGAGTG -3'
(R):5'- ACGCCATCGACTGTCATCG -3'
Posted On 2015-04-06