Incidental Mutation 'R3030:Hspb1'
ID 264688
Institutional Source Beutler Lab
Gene Symbol Hspb1
Ensembl Gene ENSMUSG00000004951
Gene Name heat shock protein 1
Synonyms Hsp25
MMRRC Submission 040546-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3030 (G1)
Quality Score 218
Status Not validated
Chromosome 5
Chromosomal Location 135916773-135918417 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 135918267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 205 (Q205*)
Ref Sequence ENSEMBL: ENSMUSP00000005077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005077] [ENSMUST00000111155]
AlphaFold P14602
Predicted Effect probably null
Transcript: ENSMUST00000005077
AA Change: Q205*
SMART Domains Protein: ENSMUSP00000005077
Gene: ENSMUSG00000004951
AA Change: Q205*

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,477,682 (GRCm39) H1202Y possibly damaging Het
Acad8 G T 9: 26,890,355 (GRCm39) H287N probably benign Het
Aimp2 T C 5: 143,843,509 (GRCm39) Y27C probably damaging Het
Cd59a A T 2: 103,941,160 (GRCm39) D46V probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cyp4f17 T C 17: 32,725,950 (GRCm39) S28P possibly damaging Het
Dytn T A 1: 63,672,678 (GRCm39) E575V probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fbln2 G A 6: 91,210,697 (GRCm39) E214K probably damaging Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Helb A T 10: 119,925,487 (GRCm39) C963* probably null Het
Itpkc G A 7: 26,911,733 (GRCm39) probably null Het
Kndc1 G T 7: 139,481,123 (GRCm39) A70S probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nlrp2 G A 7: 5,330,747 (GRCm39) R550C probably damaging Het
Plin3 T C 17: 56,591,184 (GRCm39) K199E possibly damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp4r4 A G 12: 103,573,215 (GRCm39) M705V probably benign Het
Slc22a3 T C 17: 12,676,521 (GRCm39) I291V probably benign Het
Smarca2 A C 19: 26,729,429 (GRCm39) N100T possibly damaging Het
Tmem260 T C 14: 48,722,458 (GRCm39) F331S probably damaging Het
Trank1 A G 9: 111,220,598 (GRCm39) Q2445R possibly damaging Het
Umod A G 7: 119,076,062 (GRCm39) S235P probably benign Het
Vdr T C 15: 97,755,444 (GRCm39) T360A probably benign Het
Vmn1r76 A G 7: 11,664,402 (GRCm39) S236P probably damaging 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
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'- ATGTGTAACCCTTGCCCTG -3'
(R):5'- GGGTGTTCCAATTTAGCACACC -3'

Sequencing Primer
(F):5'- TGTGTGTCCAGGCTCCC -3'
(R):5'- CTAGCCCACCATAATAACTCTGGAG -3'
Posted On 2015-02-05