Incidental Mutation 'IGL03274:Hsf2bp'
ID 415361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsf2bp
Ensembl Gene ENSMUSG00000002076
Gene Name heat shock transcription factor 2 binding protein
Synonyms 4932437G14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03274
Quality Score
Status
Chromosome 17
Chromosomal Location 32163743-32253869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32226744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 204 (R204C)
Ref Sequence ENSEMBL: ENSMUSP00000002145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002145]
AlphaFold Q9D4G2
Predicted Effect probably damaging
Transcript: ENSMUST00000002145
AA Change: R204C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076
AA Change: R204C

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 unknown
Transcript: ENSMUST00000133308
AA Change: R81C
SMART Domains Protein: ENSMUSP00000115909
Gene: ENSMUSG00000002076
AA Change: R81C

DomainStartEndE-ValueType
transmembrane domain 64 86 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138172
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
Adissp A T 2: 130,995,512 (GRCm39) probably null Het
Anln C A 9: 22,293,565 (GRCm39) R26M probably damaging Het
Capn15 A T 17: 26,180,812 (GRCm39) S753T probably damaging Het
Ccdc62 A G 5: 124,092,743 (GRCm39) N576S probably benign Het
Csmd3 T C 15: 47,508,900 (GRCm39) D2895G probably damaging Het
Dspp T A 5: 104,322,814 (GRCm39) V37E probably damaging Het
Efcab3 A T 11: 104,611,919 (GRCm39) D587V probably benign Het
Efcab6 T C 15: 83,752,450 (GRCm39) D1473G probably damaging Het
Ehhadh T C 16: 21,582,090 (GRCm39) probably benign Het
Fbln1 T C 15: 85,116,879 (GRCm39) probably null Het
Gbp9 A G 5: 105,230,652 (GRCm39) V424A possibly damaging Het
Gda T C 19: 21,394,371 (GRCm39) Y236C possibly damaging Het
Gm4884 A G 7: 40,693,969 (GRCm39) E646G probably damaging Het
Gm4952 C A 19: 12,600,960 (GRCm39) probably benign Het
Gm5422 G T 10: 31,126,348 (GRCm39) noncoding transcript Het
Grin2b C T 6: 135,757,253 (GRCm39) D403N possibly damaging Het
Il16 T C 7: 83,310,442 (GRCm39) E488G probably damaging Het
Kat6b G T 14: 21,659,831 (GRCm39) D212Y possibly damaging Het
Kctd2 A C 11: 115,320,208 (GRCm39) I247L possibly damaging Het
Kel T A 6: 41,664,929 (GRCm39) probably null Het
Krt20 A T 11: 99,320,855 (GRCm39) probably benign Het
Litaf T C 16: 10,784,433 (GRCm39) T26A probably damaging Het
N4bp2l2 G T 5: 150,584,931 (GRCm39) Q350K probably damaging Het
Nav2 T G 7: 49,011,847 (GRCm39) I26S probably damaging Het
Nfya A G 17: 48,698,375 (GRCm39) Y162H probably damaging Het
Or2g25 C T 17: 37,970,646 (GRCm39) A193T probably benign Het
Pbx4 A T 8: 70,319,200 (GRCm39) S244C probably damaging Het
Pcdhb16 T C 18: 37,612,285 (GRCm39) V415A probably benign Het
Rbbp8 A G 18: 11,874,133 (GRCm39) probably benign Het
Sp100 T C 1: 85,635,025 (GRCm39) probably benign Het
Spag16 A G 1: 69,883,540 (GRCm39) probably benign Het
Star A G 8: 26,301,082 (GRCm39) D138G possibly damaging Het
Other mutations in Hsf2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Hsf2bp APN 17 32,206,378 (GRCm39) missense probably damaging 1.00
R0563:Hsf2bp UTSW 17 32,226,692 (GRCm39) missense probably damaging 1.00
R0632:Hsf2bp UTSW 17 32,232,320 (GRCm39) missense probably damaging 1.00
R0960:Hsf2bp UTSW 17 32,226,743 (GRCm39) missense probably damaging 1.00
R1967:Hsf2bp UTSW 17 32,206,378 (GRCm39) nonsense probably null
R4375:Hsf2bp UTSW 17 32,206,322 (GRCm39) missense probably null 1.00
R4567:Hsf2bp UTSW 17 32,165,708 (GRCm39) missense probably benign 0.01
R5510:Hsf2bp UTSW 17 32,165,721 (GRCm39) missense unknown
R5546:Hsf2bp UTSW 17 32,165,669 (GRCm39) missense probably damaging 0.98
R5988:Hsf2bp UTSW 17 32,230,149 (GRCm39) critical splice donor site probably null
R7026:Hsf2bp UTSW 17 32,252,254 (GRCm39) missense possibly damaging 0.93
R7459:Hsf2bp UTSW 17 32,165,708 (GRCm39) missense probably benign 0.01
R7790:Hsf2bp UTSW 17 32,253,453 (GRCm39) missense probably benign
R7944:Hsf2bp UTSW 17 32,226,743 (GRCm39) missense probably damaging 1.00
R8781:Hsf2bp UTSW 17 32,252,241 (GRCm39) missense possibly damaging 0.93
R9130:Hsf2bp UTSW 17 32,230,082 (GRCm39) intron probably benign
R9275:Hsf2bp UTSW 17 32,206,336 (GRCm39) nonsense probably null
R9588:Hsf2bp UTSW 17 32,241,810 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02