Incidental Mutation 'R5622:Hsbp1'
ID 441638
Institutional Source Beutler Lab
Gene Symbol Hsbp1
Ensembl Gene ENSMUSG00000031839
Gene Name heat shock factor binding protein 1
Synonyms 0610007A03Rik
MMRRC Submission 043161-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5622 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120071277-120075668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120071324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 4 (T4A)
Ref Sequence ENSEMBL: ENSMUSP00000148390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034300] [ENSMUST00000212468]
AlphaFold Q9CQZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000034300
AA Change: T4A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034300
Gene: ENSMUSG00000031839
AA Change: T4A

DomainStartEndE-ValueType
Pfam:HSBP1 9 62 1.4e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212468
AA Change: T4A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213037
Meta Mutation Damage Score 0.0826 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die at the perimplantation stage and embryoid bodies show disorganized germ layers and endoderm development abnormaliies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,546,642 (GRCm39) S320T probably benign Het
Alg8 T A 7: 97,036,006 (GRCm39) probably benign Het
Anp32b G A 4: 46,469,930 (GRCm39) E202K unknown Het
Apcdd1 A G 18: 63,069,973 (GRCm39) probably null Het
Apobec2 A G 17: 48,730,444 (GRCm39) V74A possibly damaging Het
Arid3c A T 4: 41,729,959 (GRCm39) C79S probably benign Het
Atp1a2 A T 1: 172,118,994 (GRCm39) probably benign Het
B2m A T 2: 121,981,471 (GRCm39) N62I probably damaging Het
Borcs5 T C 6: 134,663,086 (GRCm39) probably null Het
Ccn1 A G 3: 145,355,075 (GRCm39) L60P probably damaging Het
Cdk11b A G 4: 155,714,674 (GRCm39) K127E probably damaging Het
Cep170 T C 1: 176,563,433 (GRCm39) H726R possibly damaging Het
Col5a2 A C 1: 45,466,219 (GRCm39) S190A probably benign Het
Cryba4 T C 5: 112,398,990 (GRCm39) D5G probably damaging Het
Cyp2a5 T G 7: 26,535,299 (GRCm39) V87G probably damaging Het
Dcaf8 A G 1: 172,013,965 (GRCm39) probably benign Het
Dchs1 A G 7: 105,404,500 (GRCm39) S2681P probably benign Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Deptor T A 15: 55,044,428 (GRCm39) I198N probably damaging Het
Ebf2 T C 14: 67,628,007 (GRCm39) I334T possibly damaging Het
F5 A G 1: 164,020,134 (GRCm39) R870G probably benign Het
Flg2 A C 3: 93,109,871 (GRCm39) H633P unknown Het
Gm11938 T A 11: 99,494,119 (GRCm39) probably null Het
Gm6370 A G 5: 146,430,708 (GRCm39) T298A probably benign Het
H60b C A 10: 22,159,441 (GRCm39) probably benign Het
Hsd3b3 A T 3: 98,649,524 (GRCm39) D266E possibly damaging Het
Ift172 T C 5: 31,440,426 (GRCm39) Y287C probably damaging Het
Il20rb T A 9: 100,368,371 (GRCm39) Q4L probably benign Het
Krt5 T C 15: 101,617,470 (GRCm39) D421G probably damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Me3 A G 7: 89,445,871 (GRCm39) D196G probably damaging Het
Mfsd12 T A 10: 81,199,461 (GRCm39) V451E probably null Het
Mib1 A G 18: 10,794,503 (GRCm39) N663S possibly damaging Het
Mtus2 A T 5: 148,015,244 (GRCm39) N679I probably benign Het
Myt1 A G 2: 181,438,915 (GRCm39) T146A probably benign Het
Neb T A 2: 52,160,281 (GRCm39) H2244L probably damaging Het
Or51l4 T C 7: 103,404,376 (GRCm39) T139A probably damaging Het
Or5b21 A C 19: 12,839,663 (GRCm39) I175L probably benign Het
Or5p81 C T 7: 108,267,289 (GRCm39) T222I probably benign Het
Pabpc4 A G 4: 123,185,524 (GRCm39) probably null Het
Padi1 C A 4: 140,552,266 (GRCm39) V393L probably damaging Het
Pax2 A T 19: 44,806,905 (GRCm39) D300V probably damaging Het
Pcgf2 T C 11: 97,581,078 (GRCm39) E71G probably damaging Het
Pi4kb A G 3: 94,906,172 (GRCm39) Q573R possibly damaging Het
Pitpna T A 11: 75,511,153 (GRCm39) M242K possibly damaging Het
Pkd1 A G 17: 24,793,014 (GRCm39) E1567G possibly damaging Het
Plcb2 A T 2: 118,545,210 (GRCm39) S630R probably damaging Het
Prrt2 A T 7: 126,618,937 (GRCm39) V176D probably benign Het
Prss1l A C 6: 41,373,084 (GRCm39) N119H probably damaging Het
Prss42 T C 9: 110,628,490 (GRCm39) probably null Het
Rhoq A G 17: 87,304,459 (GRCm39) R197G probably benign Het
Rin2 A T 2: 145,702,299 (GRCm39) T332S probably benign Het
Rnps1-ps C T 6: 7,982,605 (GRCm39) noncoding transcript Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Setbp1 T A 18: 78,900,700 (GRCm39) Y989F probably damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc35f5 G A 1: 125,517,693 (GRCm39) R497Q probably damaging Het
Slf1 T C 13: 77,198,090 (GRCm39) K728R probably benign Het
Tiparp T G 3: 65,454,946 (GRCm39) S364A probably benign Het
Tph1 G A 7: 46,296,969 (GRCm39) Q409* probably null Het
Trp73 A T 4: 154,145,049 (GRCm39) I526N possibly damaging Het
Ttc9c G A 19: 8,793,332 (GRCm39) R103* probably null Het
Vmn2r75 T A 7: 85,797,702 (GRCm39) I704F probably benign Het
Wdr76 A G 2: 121,348,216 (GRCm39) R63G probably damaging Het
Zc3h3 T A 15: 75,648,928 (GRCm39) S735C probably damaging Het
Zfp383 G A 7: 29,611,615 (GRCm39) V32M probably damaging Het
Zfp810 T A 9: 22,190,392 (GRCm39) Y172F probably benign Het
Predicted Primers PCR Primer
(F):5'- GACAATCTGAAGCCTCCTAGG -3'
(R):5'- AGTGTGAGGCCTTCAGCAAG -3'

Sequencing Primer
(F):5'- AATCTGAAGCCTCCTAGGACCTTC -3'
(R):5'- TTCAGCAAGGGCCTGCCAG -3'
Posted On 2016-11-08