Mutagenetix > Incidental Mutation

Incidental Mutation 'R8035:Hspb8'

618177

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

067472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116546550-116560923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116553485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 138 (N138D)

Ref Sequence

ENSEMBL: ENSMUSP00000037007 (fasta)

Gene Model

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

AlphaFold

Q9JK92

Predicted Effect

probably damaging
Transcript: ENSMUST00000036991
AA Change: N138D

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

SMART Domains

Protein: ENSMUSP00000037007
Gene: ENSMUSG00000041548
AA Change: N138D

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
Pfam:HSP20	93	180	4e-19	PFAM

Meta Mutation Damage Score

0.2654

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,530,243 (GRCm39)	V938A	probably damaging	Het
Acot7	A	G	4: 152,337,611 (GRCm39)	T254A	possibly damaging	Het
Ankle2	C	T	5: 110,402,318 (GRCm39)	R943C	probably damaging	Het
Arrdc2	T	C	8: 71,292,026 (GRCm39)	K7R	probably benign	Het
Arsi	T	A	18: 61,049,442 (GRCm39)	H108Q	probably damaging	Het
Asap3	T	C	4: 135,968,514 (GRCm39)	Y689H	probably benign	Het
Bnip3	G	A	7: 138,493,666 (GRCm39)	T181I	probably damaging	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccdc168	A	G	1: 44,100,711 (GRCm39)	V129A	possibly damaging	Het
Ccdc6	A	G	10: 69,933,331 (GRCm39)	I68V	probably benign	Het
Ccr3	T	C	9: 123,829,012 (GRCm39)	F116L	probably benign	Het
Cdh9	G	T	15: 16,831,152 (GRCm39)	V330F	probably damaging	Het
Cdkn1a	T	C	17: 29,318,350 (GRCm39)	C155R	possibly damaging	Het
Ctr9	C	T	7: 110,633,664 (GRCm39)	A165V	probably damaging	Het
Cyp2b19	G	A	7: 26,470,675 (GRCm39)	G439R	probably damaging	Het
Fam161b	A	T	12: 84,395,430 (GRCm39)	D504E	probably damaging	Het
Fdps	G	T	3: 89,002,783 (GRCm39)	P122T	probably benign	Het
Fmn2	T	C	1: 174,547,437 (GRCm39)	Y1454H	probably damaging	Het
Gipc2	T	C	3: 151,799,866 (GRCm39)	E288G	probably damaging	Het
Gm21411	A	C	4: 146,982,167 (GRCm39)		probably null	Het
Hnrnpc	C	T	14: 52,321,719 (GRCm39)	D32N	possibly damaging	Het
Hspa12b	T	A	2: 130,982,859 (GRCm39)	I239N	probably damaging	Het
Igkv4-69	T	C	6: 69,260,921 (GRCm39)	I69V	possibly damaging	Het
Itih1	A	C	14: 30,664,482 (GRCm39)	D81E	probably benign	Het
Kdm3b	T	C	18: 34,941,781 (GRCm39)	L624S	probably damaging	Het
Klk6	A	G	7: 43,478,086 (GRCm39)	M153V	probably benign	Het
Lgals9	A	T	11: 78,854,302 (GRCm39)	Y327*	probably null	Het
Lims1	T	A	10: 58,246,263 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,750,667 (GRCm39)	I3080F		Het
Mars2	C	T	1: 55,277,456 (GRCm39)	T353I	possibly damaging	Het
Matn4	T	C	2: 164,238,960 (GRCm39)	N307S	probably damaging	Het
Mettl17	C	T	14: 52,128,947 (GRCm39)	H406Y	probably damaging	Het
Mtor	T	A	4: 148,630,856 (GRCm39)	M2271K	probably benign	Het
Mtrex	T	C	13: 113,035,336 (GRCm39)	E539G	probably benign	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Or56a3b	T	A	7: 104,770,757 (GRCm39)	L31H	probably damaging	Het
Or5b118	T	C	19: 13,449,263 (GRCm39)	F310L	probably benign	Het
Or6k4	A	T	1: 173,964,490 (GRCm39)	Y60F	probably damaging	Het
Or8b38	C	T	9: 37,972,961 (GRCm39)	T115I	probably damaging	Het
Pbrm1	A	G	14: 30,806,109 (GRCm39)	K1030R	probably damaging	Het
Rap1gds1	A	T	3: 138,721,311 (GRCm39)	D119E	probably damaging	Het
Rgs9	A	G	11: 109,164,150 (GRCm39)	I151T	probably benign	Het
Slc26a7	A	C	4: 14,621,338 (GRCm39)	M16R	possibly damaging	Het
Slx4ip	T	G	2: 136,885,945 (GRCm39)	Y88*	probably null	Het
Sppl2c	T	A	11: 104,078,192 (GRCm39)	W331R	probably benign	Het
Srcap	T	C	7: 127,141,784 (GRCm39)	S1855P	probably benign	Het
Svs5	A	G	2: 164,079,053 (GRCm39)	F285L	probably benign	Het
Tjp1	G	T	7: 64,992,450 (GRCm39)	A76E	probably benign	Het
Trip13	G	C	13: 74,061,373 (GRCm39)	A430G	probably benign	Het
Trpm6	A	G	19: 18,770,226 (GRCm39)	E337G	probably damaging	Het
Tut7	A	T	13: 59,937,004 (GRCm39)	N1214K	probably benign	Het
Vmn1r37	T	A	6: 66,708,377 (GRCm39)	M1K	probably null	Het
Wdr72	T	G	9: 74,086,783 (GRCm39)		probably benign	Het
Zfp583	T	C	7: 6,319,771 (GRCm39)	K414E	probably damaging	Het
Zfp940	A	C	7: 29,544,948 (GRCm39)	S320A	probably benign	Het
Zfp979	A	C	4: 147,697,763 (GRCm39)	C315W	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
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
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'- TGATGAGGTGACAATCTAACCCC -3'
(R):5'- AGGTGGGCTTGAGTCTCTAC -3'

Sequencing Primer
(F):5'- GGTGACAATCTAACCCCCTACTTAGG -3'
(R):5'- GAGTCTCTACTCCAAAGTCCTAAG -3'

Posted On

2020-01-23