Incidental Mutation 'R7614:Hspb1'
ID 588763
Institutional Source Beutler Lab
Gene Symbol Hspb1
Ensembl Gene ENSMUSG00000004951
Gene Name heat shock protein 1
Synonyms Hsp25
MMRRC Submission 045682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7614 (G1)
Quality Score 125.008
Status Validated
Chromosome 5
Chromosomal Location 135916773-135918417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135917223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 104 (D104V)
Ref Sequence ENSEMBL: ENSMUSP00000005077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005077] [ENSMUST00000111155]
AlphaFold P14602
Predicted Effect probably damaging
Transcript: ENSMUST00000005077
AA Change: D104V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005077
Gene: ENSMUSG00000004951
AA Change: D104V

DomainStartEndE-ValueType
Pfam:HSP20 91 188 7.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111155
AA Change: D104V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106785
Gene: ENSMUSG00000004951
AA Change: D104V

DomainStartEndE-ValueType
Pfam:HSP20 91 147 1.4e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no apparent tissue abnormalities under physiological conditions. Mice homozygous for one knock-out allele exhibit impaired wound healing with delayed wound closing and abnormal inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,464,429 (GRCm39) T535A possibly damaging Het
Adcy9 A T 16: 4,236,088 (GRCm39) L441Q probably damaging Het
Adgrv1 A T 13: 81,668,780 (GRCm39) V2592E probably damaging Het
Ahdc1 A G 4: 132,790,825 (GRCm39) S689G probably benign Het
Ankrd24 G A 10: 81,474,523 (GRCm39) G229E unknown Het
Ankrd34c T A 9: 89,610,914 (GRCm39) I476F probably damaging Het
Arhgef19 A G 4: 140,984,090 (GRCm39) H770R possibly damaging Het
Arhgef4 T G 1: 34,771,316 (GRCm39) S1208A possibly damaging Het
Arid1a A T 4: 133,418,466 (GRCm39) M654K unknown Het
Atp11b T A 3: 35,864,259 (GRCm39) probably null Het
Cadps A G 14: 12,454,260 (GRCm38) I1086T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap276 T A 3: 108,449,848 (GRCm39) D42E probably benign Het
Cntn3 T C 6: 102,142,337 (GRCm39) H1010R probably benign Het
Cyp2c66 T A 19: 39,159,472 (GRCm39) Y308N probably damaging Het
Dok6 T A 18: 89,492,067 (GRCm39) H170L probably damaging Het
Eefsec C T 6: 88,258,576 (GRCm39) D506N possibly damaging Het
Fam181a C T 12: 103,282,805 (GRCm39) P237S probably damaging Het
Fam186b T C 15: 99,184,867 (GRCm39) I19V probably damaging Het
Gm3285 A T 10: 77,697,865 (GRCm39) T5S unknown Het
Heg1 A G 16: 33,547,733 (GRCm39) E864G probably benign Het
Herc2 T A 7: 55,803,023 (GRCm39) L2124* probably null Het
Hexa T C 9: 59,469,230 (GRCm39) S331P probably damaging Het
Ikzf1 A T 11: 11,719,019 (GRCm39) Q329L probably damaging Het
Kcnf1 C A 12: 17,224,787 (GRCm39) R478L probably benign Het
Kdm3a T C 6: 71,568,937 (GRCm39) T1161A possibly damaging Het
Krtap31-2 T C 11: 99,827,429 (GRCm39) I87T possibly damaging Het
Lars2 T C 9: 123,224,176 (GRCm39) S116P Het
Lrrk2 A G 15: 91,657,061 (GRCm39) D1785G probably damaging Het
Myo10 A G 15: 25,701,709 (GRCm39) H61R probably benign Het
Or10x4 T G 1: 174,219,220 (GRCm39) F195C probably damaging Het
Or9s13 A G 1: 92,548,183 (GRCm39) Y185C probably damaging Het
Pcdhb4 C A 18: 37,442,602 (GRCm39) H637Q probably benign Het
Pcsk9 T A 4: 106,304,763 (GRCm39) D435V probably benign Het
Prickle2 T A 6: 92,402,631 (GRCm39) Y119F possibly damaging Het
Prr5 A G 15: 84,641,276 (GRCm39) T181A probably benign Het
Psd T A 19: 46,301,877 (GRCm39) Q903L probably damaging Het
Ptpn13 T A 5: 103,649,331 (GRCm39) S245T probably benign Het
Resp18 T C 1: 75,254,882 (GRCm39) S24G probably damaging Het
Slc17a4 T C 13: 24,090,580 (GRCm39) T89A probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Slit1 T A 19: 41,622,639 (GRCm39) I707F probably damaging Het
Sp4 T C 12: 118,218,174 (GRCm39) E691G possibly damaging Het
Sun2 G T 15: 79,623,225 (GRCm39) probably null Het
Syne3 T C 12: 104,912,901 (GRCm39) T723A not run Het
Tcp1 T A 17: 13,141,540 (GRCm39) F340I possibly damaging Het
Tmem39b A T 4: 129,587,694 (GRCm39) V39D probably damaging Het
Tmtc3 A T 10: 100,286,214 (GRCm39) Y536* probably null Het
Tnfrsf11a A T 1: 105,755,094 (GRCm39) T389S probably damaging Het
Ttn T C 2: 76,598,873 (GRCm39) T19347A possibly damaging Het
Vmn1r68 A G 7: 10,261,553 (GRCm39) S182P probably benign Het
Vmn2r95 A G 17: 18,660,352 (GRCm39) T255A probably benign Het
Wdr59 T C 8: 112,219,394 (GRCm39) Y221C Het
Other mutations in Hspb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0786:Hspb1 UTSW 5 135,918,097 (GRCm39) missense probably damaging 1.00
R2393:Hspb1 UTSW 5 135,917,950 (GRCm39) missense probably benign 0.05
R3030:Hspb1 UTSW 5 135,918,267 (GRCm39) nonsense probably null
R5439:Hspb1 UTSW 5 135,918,186 (GRCm39) missense probably benign 0.15
R7349:Hspb1 UTSW 5 135,918,187 (GRCm39) missense possibly damaging 0.94
R8492:Hspb1 UTSW 5 135,918,222 (GRCm39) missense possibly damaging 0.80
R8942:Hspb1 UTSW 5 135,916,928 (GRCm39) missense probably damaging 1.00
R9502:Hspb1 UTSW 5 135,917,930 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TCGATCAAGCTTTCGGGGTG -3'
(R):5'- TAGGTTCATTTCTAACTTCTCAGGG -3'

Sequencing Primer
(F):5'- CCGATGAGTGGTCGCAGTG -3'
(R):5'- CTCAGGGTTCTATTCCTCAGGG -3'
Posted On 2019-10-24