Incidental Mutation 'R8442:Hspb8'
ID 654243
Institutional Source Beutler Lab
Gene Symbol Hspb8
Ensembl Gene ENSMUSG00000041548
Gene Name heat shock protein 8
Synonyms Cryac, HSP22, D5Ucla4, H11K, HSP20-like, E2IG1, H11
MMRRC Submission 067779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R8442 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 116546550-116560923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116560504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 12 (Y12C)
Ref Sequence ENSEMBL: ENSMUSP00000037007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036991]
AlphaFold Q9JK92
Predicted Effect probably damaging
Transcript: ENSMUST00000036991
AA Change: Y12C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: Y12C

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Pfam:HSP20 93 180 4e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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 belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: When exposed to pressure overload, mice homozygous for a knock-out allele develop less hypertrophy and display ventricular dilation, impaired contractile function, increased myocyte length and accumulation of interstitial collagen, accelerated transitioninto heart failure, and increased mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof T C 10: 128,104,891 (GRCm39) L15P probably damaging Het
BC048671 T C 6: 90,282,095 (GRCm39) F84S probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C2cd4a C T 9: 67,739,039 (GRCm39) M1I probably null Het
Cd72 T A 4: 43,450,109 (GRCm39) K266N possibly damaging Het
Col12a1 A G 9: 79,542,781 (GRCm39) F2328S probably damaging Het
Cubn T C 2: 13,318,855 (GRCm39) Y2948C probably damaging Het
Dagla A G 19: 10,240,456 (GRCm39) probably null Het
Dagla A G 19: 10,248,883 (GRCm39) F24L probably damaging Het
Dnah14 A G 1: 181,568,849 (GRCm39) T2860A probably damaging Het
Efcab2 A T 1: 178,265,001 (GRCm39) K22N probably benign Het
Flt1 C T 5: 147,512,983 (GRCm39) R1118Q probably damaging Het
Foxl1 T A 8: 121,855,224 (GRCm39) L175Q possibly damaging Het
Gm572 G T 4: 148,743,450 (GRCm39) R140L possibly damaging Het
Gucy2g T C 19: 55,205,833 (GRCm39) R676G probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Igf2bp2 A C 16: 21,883,841 (GRCm39) probably null Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Il5 C T 11: 53,612,651 (GRCm39) P54S probably damaging Het
Kif18a T C 2: 109,125,318 (GRCm39) I245T possibly damaging Het
Kif2b T A 11: 91,467,140 (GRCm39) N381I possibly damaging Het
Lrrc49 A G 9: 60,500,908 (GRCm39) F679S probably benign Het
Med24 A G 11: 98,598,383 (GRCm39) F742L probably benign Het
Msh3 T C 13: 92,349,020 (GRCm39) T1071A probably benign Het
Neb T C 2: 52,177,220 (GRCm39) T1374A probably damaging Het
Or4d6 A T 19: 12,086,091 (GRCm39) I47N probably damaging Het
Or5p75-ps1 A C 7: 108,107,851 (GRCm39) Q196P unknown Het
P3h2 A G 16: 25,805,955 (GRCm39) I296T probably benign Het
Pcdhb21 A T 18: 37,646,841 (GRCm39) probably benign Het
Prkab2 G T 3: 97,566,002 (GRCm39) G25C probably damaging Het
Ptprm C A 17: 67,251,312 (GRCm39) A522S possibly damaging Het
Scarf2 A G 16: 17,624,231 (GRCm39) D512G probably benign Het
Sema3d A G 5: 12,592,608 (GRCm39) T346A probably damaging Het
Septin7 T C 9: 25,163,938 (GRCm39) S2P unknown Het
Sfrp5 A G 19: 42,187,236 (GRCm39) V278A probably benign Het
Taar1 T A 10: 23,796,522 (GRCm39) C73* probably null Het
Tek T A 4: 94,715,922 (GRCm39) L448Q probably benign Het
Tmem132a A C 19: 10,835,833 (GRCm39) L899R probably damaging Het
Txndc5 T C 13: 38,711,845 (GRCm39) probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Uggt1 A G 1: 36,212,568 (GRCm39) S925P probably damaging Het
Unc13d A T 11: 115,958,657 (GRCm39) D786E probably damaging Het
Vmn1r26 T C 6: 57,985,728 (GRCm39) T154A possibly damaging Het
Other mutations in Hspb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03308:Hspb8 APN 5 116,547,401 (GRCm39) missense possibly damaging 0.86
ale UTSW 5 116,547,547 (GRCm39) missense probably damaging 1.00
R0332:Hspb8 UTSW 5 116,547,532 (GRCm39) missense probably damaging 1.00
R4037:Hspb8 UTSW 5 116,547,403 (GRCm39) missense probably benign 0.01
R4039:Hspb8 UTSW 5 116,547,403 (GRCm39) missense probably benign 0.01
R5100:Hspb8 UTSW 5 116,553,468 (GRCm39) missense probably damaging 1.00
R5256:Hspb8 UTSW 5 116,547,532 (GRCm39) missense probably damaging 1.00
R6376:Hspb8 UTSW 5 116,547,491 (GRCm39) missense probably damaging 1.00
R6476:Hspb8 UTSW 5 116,560,457 (GRCm39) missense probably damaging 1.00
R8035:Hspb8 UTSW 5 116,553,485 (GRCm39) missense probably damaging 1.00
R9084:Hspb8 UTSW 5 116,560,492 (GRCm39) missense probably benign
R9134:Hspb8 UTSW 5 116,547,547 (GRCm39) missense probably damaging 1.00
R9377:Hspb8 UTSW 5 116,547,487 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTACCATGCCAGACCTTAGG -3'
(R):5'- ACCTTTGTAAGCCAGGACCC -3'

Sequencing Primer
(F):5'- ACCTTAGGGTTCCAGGCCAG -3'
(R):5'- TCAATTCTGGGCAGCCAG -3'
Posted On 2020-10-20