Incidental Mutation 'IGL00698:Hsf3'
ID 11366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf3
Ensembl Gene ENSMUSG00000045802
Gene Name heat shock transcription factor 3
Synonyms B230358A15Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00698
Quality Score
Status
Chromosome X
Chromosomal Location 95349784-95499900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95382087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 23 (I23T)
Ref Sequence ENSEMBL: ENSMUSP00000137314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059003] [ENSMUST00000119035] [ENSMUST00000164693] [ENSMUST00000179832]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059003
AA Change: I91T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000052508
Gene: ENSMUSG00000045802
AA Change: I91T

DomainStartEndE-ValueType
HSF 8 112 1e-44 SMART
low complexity region 352 363 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119035
AA Change: I23T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114018
Gene: ENSMUSG00000045802
AA Change: I23T

DomainStartEndE-ValueType
Pfam:HSF_DNA-bind 1 47 8.8e-9 PFAM
low complexity region 284 295 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146965
Predicted Effect probably benign
Transcript: ENSMUST00000164693
AA Change: I80T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000132248
Gene: ENSMUSG00000045802
AA Change: I80T

DomainStartEndE-ValueType
HSF 6 101 1.18e-23 SMART
low complexity region 341 352 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179832
AA Change: I23T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137314
Gene: ENSMUSG00000045802
AA Change: I23T

DomainStartEndE-ValueType
Pfam:HSF_DNA-bind 1 47 8.8e-9 PFAM
low complexity region 284 295 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T A 6: 65,929,879 (GRCm39) V38E probably damaging Het
Bbs12 T C 3: 37,374,943 (GRCm39) S579P probably benign Het
Chd3 A G 11: 69,240,697 (GRCm39) S1487P probably damaging Het
Cobl G T 11: 12,203,722 (GRCm39) N986K probably benign Het
Cpd T C 11: 76,731,270 (GRCm39) E312G possibly damaging Het
Fat4 C A 3: 39,035,294 (GRCm39) P2982Q probably benign Het
Mettl25 C A 10: 105,629,201 (GRCm39) C487F probably null Het
Ranbp17 T C 11: 33,391,910 (GRCm39) T34A probably benign Het
Zfc3h1 T C 10: 115,255,737 (GRCm39) F1463L possibly damaging Het
Zfp959 A G 17: 56,204,565 (GRCm39) T201A possibly damaging Het
Other mutations in Hsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Hsf3 APN X 95,358,578 (GRCm39) missense probably benign 0.00
IGL01522:Hsf3 APN X 95,364,200 (GRCm39) splice site probably benign
R2257:Hsf3 UTSW X 95,363,928 (GRCm39) nonsense probably null
Z1088:Hsf3 UTSW X 95,363,923 (GRCm39) missense possibly damaging 0.83
Z1088:Hsf3 UTSW X 95,363,922 (GRCm39) nonsense probably null
Posted On 2012-12-06