Incidental Mutation 'R4567:Hsf2bp'
ID 343366
Institutional Source Beutler Lab
Gene Symbol Hsf2bp
Ensembl Gene ENSMUSG00000002076
Gene Name heat shock transcription factor 2 binding protein
Synonyms 4932437G14Rik
MMRRC Submission 041791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4567 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32163743-32253869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32165708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 296 (V296M)
Ref Sequence ENSEMBL: ENSMUSP00000002145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002145]
AlphaFold Q9D4G2
Predicted Effect probably benign
Transcript: ENSMUST00000002145
AA Change: V296M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076
AA Change: V296M

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
SMART Domains Protein: ENSMUSP00000115909
Gene: ENSMUSG00000002076
AA Change: G138D

DomainStartEndE-ValueType
transmembrane domain 64 86 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171455
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (38/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,315,499 (GRCm39) L182Q probably damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Alg12 T C 15: 88,690,556 (GRCm39) probably benign Het
Asmt A G X: 169,110,261 (GRCm39) probably null Het
Atp10b T C 11: 43,088,384 (GRCm39) I330T probably benign Het
Ceacam23 T C 7: 17,642,891 (GRCm39) S434P probably damaging Het
Dennd5a T C 7: 109,498,942 (GRCm39) M998V probably benign Het
Erbb3 A G 10: 128,414,944 (GRCm39) S401P probably damaging Het
Gm10718 A T 9: 3,023,716 (GRCm39) T56S probably benign Het
Gm1527 A T 3: 28,968,556 (GRCm39) N203Y probably damaging Het
Htr1d T A 4: 136,170,836 (GRCm39) V355E probably benign Het
Ints11 T C 4: 155,970,132 (GRCm39) V203A probably damaging Het
Iqsec3 A G 6: 121,364,721 (GRCm39) V856A probably damaging Het
Nherf4 C A 9: 44,160,323 (GRCm39) V294L possibly damaging Het
Or2ag1b G A 7: 106,288,420 (GRCm39) Q173* probably null Het
Or2y6 T C 11: 52,104,291 (GRCm39) H175R probably damaging Het
Or5t18 A G 2: 86,637,146 (GRCm39) S66P probably damaging Het
Phf11 A T 14: 59,488,627 (GRCm39) Y57N probably damaging Het
Ppfia2 G A 10: 106,701,267 (GRCm39) probably null Het
Prss23 T A 7: 89,160,074 (GRCm39) probably benign Het
Rasl2-9 AGG A 7: 5,128,374 (GRCm39) probably null Het
Rcn2 A T 9: 55,960,266 (GRCm39) I178F probably benign Het
Rtn1 C T 12: 72,259,261 (GRCm39) probably benign Het
Sik2 A G 9: 50,909,876 (GRCm39) V59A probably damaging Het
Slc25a42 A T 8: 70,641,504 (GRCm39) M159K probably damaging Het
Slc9a4 T C 1: 40,619,737 (GRCm39) L21P probably damaging Het
Smap2 A C 4: 120,842,508 (GRCm39) W41G probably damaging Het
Sox6 T C 7: 115,261,557 (GRCm39) I220V probably benign Het
Spata31e2 T C 1: 26,722,198 (GRCm39) D994G probably benign Het
Syt17 A G 7: 118,033,495 (GRCm39) V171A probably benign Het
Tjp1 A G 7: 64,956,249 (GRCm39) F1332S probably damaging Het
Trim3 C T 7: 105,262,623 (GRCm39) V512I possibly damaging Het
Uhmk1 G A 1: 170,032,686 (GRCm39) Q282* probably null Het
Ushbp1 G A 8: 71,838,361 (GRCm39) R648W probably damaging Het
Other mutations in Hsf2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Hsf2bp APN 17 32,206,378 (GRCm39) missense probably damaging 1.00
IGL03274:Hsf2bp APN 17 32,226,744 (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
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
Predicted Primers PCR Primer
(F):5'- TGAACATGGAGTTAGAAGCCTG -3'
(R):5'- TATTTCTGGATTAGCCCACAGC -3'

Sequencing Primer
(F):5'- CTGGGAGGGGATGGACCAC -3'
(R):5'- CACAGCTTTTTCAATTGTCAAACCTG -3'
Posted On 2015-09-24