Incidental Mutation 'IGL01134:Hsf2bp'
ID 53106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf2bp
Ensembl Gene ENSMUSG00000002076
Gene Name heat shock transcription factor 2 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01134
Quality Score
Status
Chromosome 17
Chromosomal Location 31944769-32034508 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31987404 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 251 (L251S)
Ref Sequence ENSEMBL: ENSMUSP00000002145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002145]
AlphaFold Q9D4G2
Predicted Effect probably damaging
Transcript: ENSMUST00000002145
AA Change: L251S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076
AA Change: L251S

DomainStartEndE-ValueType
coiled coil region 50 126 N/A INTRINSIC
low complexity region 214 225 N/A INTRINSIC
SCOP:d1gw5a_ 252 329 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133308
SMART Domains Protein: ENSMUSP00000115909
Gene: ENSMUSG00000002076

DomainStartEndE-ValueType
transmembrane domain 64 86 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Hsf2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03274:Hsf2bp APN 17 32007770 missense probably damaging 1.00
R0563:Hsf2bp UTSW 17 32007718 missense probably damaging 1.00
R0632:Hsf2bp UTSW 17 32013346 missense probably damaging 1.00
R0960:Hsf2bp UTSW 17 32007769 missense probably damaging 1.00
R1967:Hsf2bp UTSW 17 31987404 nonsense probably null
R4375:Hsf2bp UTSW 17 31987348 missense probably null 1.00
R4567:Hsf2bp UTSW 17 31946734 missense probably benign 0.01
R5510:Hsf2bp UTSW 17 31946747 missense unknown
R5546:Hsf2bp UTSW 17 31946695 missense probably damaging 0.98
R5988:Hsf2bp UTSW 17 32011175 critical splice donor site probably null
R7026:Hsf2bp UTSW 17 32033280 missense possibly damaging 0.93
R7459:Hsf2bp UTSW 17 31946734 missense probably benign 0.01
R7790:Hsf2bp UTSW 17 32034479 missense probably benign
R7944:Hsf2bp UTSW 17 32007769 missense probably damaging 1.00
R8781:Hsf2bp UTSW 17 32033267 missense possibly damaging 0.93
R9275:Hsf2bp UTSW 17 31987362 nonsense probably null
Posted On 2013-06-21