Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Hspb8'

35913

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

038541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R0332 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

116546550-116560923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116547532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 150 (D150V)

Ref Sequence

ENSEMBL: ENSMUSP00000037007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036991]

AlphaFold

Q9JK92

Predicted Effect

probably damaging
Transcript: ENSMUST00000036991
AA Change: D150V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: D150V

Domain	Start	End	E-Value	Type
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

0.8907

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,340,187 (GRCm39)	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm10644	A	G	8: 84,660,210 (GRCm39)	L45S	possibly damaging	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Phykpl	A	G	11: 51,477,502 (GRCm39)	E98G	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,474,677 (GRCm39)	F86L	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,024,884 (GRCm39)	Q253H	probably benign	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably damaging	Het

Other mutations in Hspb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TTGCGTCACCCTGTGGAGAAATC -3'
(R):5'- TCAAAGTTCCGGTCTGGCAAGG -3'

Sequencing Primer
(F):5'- AGTGCTGCTAAAGTAGTGTACCC -3'
(R):5'- acacacacaaatacacacatacac -3'

Posted On

2013-05-09