Incidental Mutation 'R5100:Hspb8'
ID 500866
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 042689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5100 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 116546550-116560923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116553468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 143 (I143M)
Ref Sequence ENSEMBL: ENSMUSP00000037007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036991]
AlphaFold Q9JK92
Predicted Effect probably damaging
Transcript: ENSMUST00000036991
AA Change: I143M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: I143M

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Pfam:HSP20 93 180 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133335
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,477 (GRCm39) M774K probably damaging Het
Adamts3 G A 5: 89,856,502 (GRCm39) T357I probably damaging Het
Ap3m2 T A 8: 23,279,404 (GRCm39) M408L probably benign Het
Apaf1 A T 10: 90,833,149 (GRCm39) N1116K probably benign Het
Arhgap31 A T 16: 38,421,821 (GRCm39) I1415N probably damaging Het
Arhgef17 A T 7: 100,530,963 (GRCm39) D1374E possibly damaging Het
Asxl1 C G 2: 153,239,851 (GRCm39) N546K probably damaging Het
Cobll1 T A 2: 64,956,245 (GRCm39) T337S probably benign Het
Depdc1a A T 3: 159,221,157 (GRCm39) I163L probably benign Het
Flrt3 T A 2: 140,513,304 (GRCm39) probably null Het
Foxn4 A T 5: 114,394,820 (GRCm39) L369H possibly damaging Het
Gm11992 T C 11: 9,011,290 (GRCm39) S244P probably damaging Het
Gm14412 C T 2: 177,006,908 (GRCm39) C329Y probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5113 G A 7: 29,878,076 (GRCm39) V55M probably damaging Het
Grhl3 A G 4: 135,269,986 (GRCm39) I599T probably benign Het
H2-Q6 G C 17: 35,644,296 (GRCm39) E93Q probably benign Het
Hk3 T C 13: 55,156,843 (GRCm39) T570A probably damaging Het
Kif15 A G 9: 122,821,059 (GRCm39) T655A probably damaging Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Lrit1 T A 14: 36,784,171 (GRCm39) C500S possibly damaging Het
Macf1 A C 4: 123,368,261 (GRCm39) C602G probably benign Het
Mesd C T 7: 83,546,977 (GRCm39) R147C probably damaging Het
Mfge8 A T 7: 78,793,048 (GRCm39) D139E probably benign Het
Ncoa3 G A 2: 165,892,017 (GRCm39) R131Q probably damaging Het
Ncoa5 A G 2: 164,851,309 (GRCm39) I188T probably damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nhlrc1 T C 13: 47,167,897 (GRCm39) H120R probably benign Het
Otos T A 1: 92,572,107 (GRCm39) H73L probably damaging Het
Pcsk5 C T 19: 17,492,499 (GRCm39) probably null Het
Phc3 T C 3: 30,976,348 (GRCm39) E740G possibly damaging Het
Pla2g7 T C 17: 43,922,267 (GRCm39) L382P probably damaging Het
Plcd3 C A 11: 102,969,175 (GRCm39) R264L probably benign Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Ptchd4 A T 17: 42,814,567 (GRCm39) I823F possibly damaging Het
Scn9a T C 2: 66,364,463 (GRCm39) R828G probably damaging Het
Spred2 T A 11: 19,971,291 (GRCm39) C386* probably null Het
Terb1 A T 8: 105,221,805 (GRCm39) L165* probably null Het
Tgm2 A T 2: 157,969,084 (GRCm39) S430R probably benign Het
Tnxb A T 17: 34,929,902 (GRCm39) I2879F probably damaging Het
Trpm3 T G 19: 22,896,130 (GRCm39) V977G probably damaging Het
Wnt5b A C 6: 119,417,449 (GRCm39) S139A probably benign Het
Zfp820 C A 17: 22,040,054 (GRCm39) V52L possibly damaging Het
Zfyve26 T A 12: 79,326,832 (GRCm39) R764* probably null 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
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'- GCTGATGAGGTGACAATCTAACC -3'
(R):5'- AGGTGGGCTTGAGTCTCTAC -3'

Sequencing Primer
(F):5'- GGTGACAATCTAACCCCCTACTTAGG -3'
(R):5'- GAGTCTCTACTCCAAAGTCCTAAG -3'
Posted On 2017-12-01