Incidental Mutation 'IGL03308:Hspb8'
ID 416462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspb8
Ensembl Gene ENSMUSG00000041548
Gene Name heat shock protein 8
Synonyms Cryac, HSP22, D5Ucla4, H11K, HSP20-like, E2IG1, H11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL03308
Quality Score
Status
Chromosome 5
Chromosomal Location 116546550-116560923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116547401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 194 (T194A)
Ref Sequence ENSEMBL: ENSMUSP00000037007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036991]
AlphaFold Q9JK92
Predicted Effect possibly damaging
Transcript: ENSMUST00000036991
AA Change: T194A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: T194A

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,821 (GRCm39) I216V probably damaging Het
Abcc1 A G 16: 14,288,475 (GRCm39) I1367V possibly damaging Het
Ap1g2 T A 14: 55,342,333 (GRCm39) I175F probably benign Het
Atad2 A G 15: 57,965,919 (GRCm39) V671A probably benign Het
Ccdc134 A G 15: 82,015,721 (GRCm39) D67G probably damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Col3a1 A G 1: 45,369,777 (GRCm39) probably benign Het
Col5a3 A G 9: 20,719,675 (GRCm39) L228P unknown Het
Eef1a2 A G 2: 180,790,629 (GRCm39) probably benign Het
Fars2 T G 13: 36,388,670 (GRCm39) I53R possibly damaging Het
Frmd4a G T 2: 4,502,837 (GRCm39) A98S possibly damaging Het
Gprin1 T A 13: 54,887,957 (GRCm39) M106L probably benign Het
Ift27 A G 15: 78,050,215 (GRCm39) S65P probably damaging Het
Inpp5d A C 1: 87,630,919 (GRCm39) Y430S probably damaging Het
Kat6b T C 14: 21,674,902 (GRCm39) S356P probably damaging Het
Limch1 C T 5: 67,159,901 (GRCm39) T443M possibly damaging Het
Mcf2l C T 8: 13,059,512 (GRCm39) R708C probably damaging Het
Mlf1 T C 3: 67,305,140 (GRCm39) W214R probably damaging Het
Naga A T 15: 82,220,088 (GRCm39) L153Q probably damaging Het
Nbas A G 12: 13,374,349 (GRCm39) Q559R possibly damaging Het
Or2ab1 T C 11: 58,488,525 (GRCm39) F101S probably damaging Het
Or2t6 T A 14: 14,175,161 (GRCm38) H307L probably benign Het
Prex2 A G 1: 11,255,399 (GRCm39) D1148G possibly damaging Het
Prss23 A C 7: 89,158,938 (GRCm39) L377R probably benign Het
Ptprc G T 1: 138,054,058 (GRCm39) T27K possibly damaging Het
Rnf213 A G 11: 119,364,998 (GRCm39) T4553A probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Skint3 T C 4: 112,111,264 (GRCm39) F130L probably damaging Het
Slc8a1 A G 17: 81,749,624 (GRCm39) probably benign Het
Stau1 T C 2: 166,792,240 (GRCm39) N433D probably damaging Het
Tapbpl G A 6: 125,205,142 (GRCm39) A268V possibly damaging Het
Tmem131l T C 3: 83,848,209 (GRCm39) I314V probably benign Het
Tmem44 A G 16: 30,362,566 (GRCm39) W151R probably damaging Het
Tnnc1 T C 14: 30,931,798 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,461 (GRCm39) N530T probably damaging Het
Ttn A G 2: 76,576,907 (GRCm39) I24662T probably damaging Het
Vmn1r49 A T 6: 90,049,341 (GRCm39) H220Q possibly damaging Het
Vmn2r106 A T 17: 20,498,785 (GRCm39) C375* probably null Het
Vps26b T C 9: 26,940,796 (GRCm39) Y41C probably damaging Het
Wdr64 T C 1: 175,594,562 (GRCm39) probably benign Het
Xylt1 C T 7: 117,236,978 (GRCm39) Q576* probably null Het
Zfp106 T C 2: 120,354,505 (GRCm39) D1422G probably benign Het
Other mutations in Hspb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02