|Institutional Source||Beutler Lab|
|Gene Name||heat shock protein 8|
|Synonyms||H11K, E2IG1, HSP20-like, HSP22, Cryac, D5Ucla4, H11|
|Is this an essential gene?||Probably non essential (E-score: 0.231)|
|Stock #||R4039 (G1)|
|Chromosomal Location||116408491-116422864 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 116409344 bp|
|Amino Acid Change||Valine to Alanine at position 193 (V193A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037007 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036991]|
|Predicted Effect||probably benign
AA Change: V193A
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: V193A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.076|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
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||
|Other mutations in Hspb8||
(F):5'- CGTCACCCTGTGGAGAAATC -3'
(R):5'- TCAATGAACACGGTAGCTTTAGC -3'
(F):5'- CGTCACCCTGTGGAGAAATCTATTAC -3'
(R):5'- ACAATCAGTGGTAAGACCTTCTG -3'