Incidental Mutation 'IGL01294:Hsf4'
ID73020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf4
Ensembl Gene ENSMUSG00000033249
Gene Nameheat shock transcription factor 4
Synonymsldis1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01294
Quality Score
Status
Chromosome8
Chromosomal Location105269801-105275845 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) G to T at 105275657 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Leucine at position 417 (*417L)
Ref Sequence ENSEMBL: ENSMUSP00000134477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000036127] [ENSMUST00000163734] [ENSMUST00000171788] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000173640] [ENSMUST00000173859] [ENSMUST00000174837] [ENSMUST00000212922]
Predicted Effect probably null
Transcript: ENSMUST00000014920
SMART Domains Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

DomainStartEndE-ValueType
CARD 4 92 2.1e-27 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 173 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000014981
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably null
Transcript: ENSMUST00000036127
AA Change: *493L
SMART Domains Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: *493L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 383 8e-88 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000163734
AA Change: *433L
SMART Domains Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: *433L

DomainStartEndE-ValueType
HSF 9 60 1.43e-1 SMART
Blast:HSF 99 323 2e-88 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171788
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172525
SMART Domains Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249

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 benign
Transcript: ENSMUST00000173640
SMART Domains Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 284 1e-50 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000173859
AA Change: *463L
SMART Domains Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: *463L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 353 1e-46 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000174837
AA Change: *417L
SMART Domains Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: *417L

DomainStartEndE-ValueType
HSF 16 120 1.74e-62 SMART
Blast:HSF 159 290 3e-50 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000212922
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 128,237,119 S101T probably benign Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arglu1 G T 8: 8,683,739 probably benign Het
Cacna2d2 T G 9: 107,514,081 Y436D probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cpne8 G A 15: 90,501,445 S460L probably damaging Het
Crat G A 2: 30,405,187 A436V probably damaging Het
Dmd T C X: 84,431,998 probably null Het
Emilin2 G T 17: 71,274,594 A379E probably benign Het
Ercc2 A G 7: 19,390,417 I445V probably benign Het
Evc2 T C 5: 37,347,510 probably null Het
Filip1l A T 16: 57,572,348 K1100* probably null Het
Gm4353 T A 7: 116,083,842 D168V possibly damaging Het
H2afy A T 13: 56,074,300 V346E probably damaging Het
Kmt2a A G 9: 44,820,297 probably benign Het
Mpzl1 A G 1: 165,593,608 S261P probably damaging Het
Mre11a T C 9: 14,830,915 S621P probably damaging Het
Muc6 T C 7: 141,646,659 Y934C probably damaging Het
Naip5 A G 13: 100,217,080 S1224P probably damaging Het
Nwd1 A T 8: 72,711,745 N1474Y probably damaging Het
Olfr704 T C 7: 106,865,763 L261S probably damaging Het
Ptbp2 A G 3: 119,747,812 V192A probably damaging Het
Rfx2 T C 17: 56,783,657 Y421C probably damaging Het
Sfmbt2 T A 2: 10,590,421 probably benign Het
Slc4a10 A C 2: 62,253,309 probably null Het
Slitrk6 T C 14: 110,750,074 M734V probably benign Het
Tap1 T C 17: 34,194,045 probably null Het
Tep1 A G 14: 50,829,657 probably benign Het
Uba6 T A 5: 86,150,048 I256L possibly damaging Het
Wnt3 A T 11: 103,808,314 H82L possibly damaging Het
Other mutations in Hsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Hsf4 APN 8 105271589 missense probably damaging 1.00
IGL02040:Hsf4 APN 8 105275667 unclassified probably benign
R0115:Hsf4 UTSW 8 105272704 critical splice acceptor site probably null
R0449:Hsf4 UTSW 8 105275590 missense probably benign 0.04
R0585:Hsf4 UTSW 8 105271031 missense probably damaging 1.00
R1365:Hsf4 UTSW 8 105271094 missense probably damaging 0.99
R1401:Hsf4 UTSW 8 105275603 missense probably benign
R2276:Hsf4 UTSW 8 105269996 missense probably null 0.91
R2278:Hsf4 UTSW 8 105269996 missense probably null 0.91
R3848:Hsf4 UTSW 8 105270837 missense probably damaging 1.00
R3850:Hsf4 UTSW 8 105270837 missense probably damaging 1.00
R4240:Hsf4 UTSW 8 105274881 missense possibly damaging 0.58
R4781:Hsf4 UTSW 8 105274752 critical splice donor site probably null
R4790:Hsf4 UTSW 8 105270605 missense probably damaging 1.00
R4917:Hsf4 UTSW 8 105272735 missense probably benign 0.00
R4918:Hsf4 UTSW 8 105272735 missense probably benign 0.00
R4930:Hsf4 UTSW 8 105272698 splice site probably null
R5110:Hsf4 UTSW 8 105272795 missense probably benign 0.01
R5189:Hsf4 UTSW 8 105271428 frame shift probably null
R6001:Hsf4 UTSW 8 105272909 missense possibly damaging 0.70
R6167:Hsf4 UTSW 8 105270849 missense probably damaging 1.00
R6802:Hsf4 UTSW 8 105274668 missense probably damaging 1.00
R7231:Hsf4 UTSW 8 105272147 missense probably damaging 1.00
Posted On2013-10-07