Incidental Mutation 'R0786:Hspb1'
ID 76851
Institutional Source Beutler Lab
Gene Symbol Hspb1
Ensembl Gene ENSMUSG00000004951
Gene Name heat shock protein 1
Synonyms Hsp25
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135916773-135918417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135918097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 148 (L148P)
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: L148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005077
Gene: ENSMUSG00000004951
AA Change: L148P

DomainStartEndE-ValueType
Pfam:HSP20 91 188 7.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111155
SMART Domains Protein: ENSMUSP00000106785
Gene: ENSMUSG00000004951

DomainStartEndE-ValueType
Pfam:HSP20 91 147 1.4e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Hspb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7614:Hspb1 UTSW 5 135,917,223 (GRCm39) missense probably damaging 1.00
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'- TCCCAAATAAGCAAGCGGCAGG -3'
(R):5'- CAGACTGTTCAGACTTCCCAGCTTC -3'

Sequencing Primer
(F):5'- GCAGAGGCTTTGAGTATACCTACC -3'
(R):5'- GACTTCCCAGCTTCTGGGC -3'
Posted On 2013-10-16