Incidental Mutation 'R4037:Hspb8'
ID 313751
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 040964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4037 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 116546550-116560923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116547403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
Ref Sequence ENSEMBL: ENSMUSP00000037007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036991]
AlphaFold Q9JK92
Predicted Effect probably benign
Transcript: ENSMUST00000036991
AA Change: V193A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: V193A

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Pfam:HSP20 93 180 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133335
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 93% (37/40)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,597,319 (GRCm39) F881L probably benign Het
Capn6 A G X: 142,590,859 (GRCm39) W291R probably damaging Het
Cdc27 T C 11: 104,398,033 (GRCm39) I776V probably damaging Het
Cpne5 C T 17: 29,378,087 (GRCm39) R564H unknown Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dcc A G 18: 72,483,468 (GRCm39) L17P possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Efcc1 C T 6: 87,708,490 (GRCm39) Q206* probably null Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Hcls1 A G 16: 36,776,987 (GRCm39) T226A possibly damaging Het
Hmcn1 T A 1: 150,648,253 (GRCm39) T678S probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Man1c1 C T 4: 134,320,650 (GRCm39) D217N probably damaging Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncoa6 G A 2: 155,249,290 (GRCm39) S1338L probably damaging Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Or4a73 C T 2: 89,421,379 (GRCm39) V27I probably benign Het
Or4c113 A G 2: 88,885,032 (GRCm39) V246A probably damaging Het
Pax4 A G 6: 28,443,882 (GRCm39) I241T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ruvbl1 T A 6: 88,450,117 (GRCm39) M96K probably damaging Het
Sdk2 T C 11: 113,685,881 (GRCm39) I1880V probably damaging Het
Sis T C 3: 72,835,935 (GRCm39) N885D probably benign Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc36a2 T C 11: 55,055,101 (GRCm39) D318G probably benign Het
Slc38a4 G A 15: 96,894,923 (GRCm39) A531V probably benign Het
Stat3 C T 11: 100,783,951 (GRCm39) G658R probably damaging Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Tnk2 G T 16: 32,489,614 (GRCm39) A298S probably damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably 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
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
R8442:Hspb8 UTSW 5 116,560,504 (GRCm39) missense probably damaging 0.99
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'- TCCTTTGACCTAACGCAACC -3'
(R):5'- CAGTGGTAAGACCTTCTGTTTTGC -3'

Sequencing Primer
(F):5'- CGTCACCCTGTGGAGAAATCTATTAC -3'
(R):5'- AAGACCTTCTGTTTTGCTCTCCCAG -3'
Posted On 2015-04-30