Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Hspb7'

15662

Institutional Source

Beutler Lab

Gene Symbol

Hspb7

Ensembl Gene

ENSMUSG00000006221

Gene Name

heat shock protein family, member 7 (cardiovascular)

Synonyms

cvHsp, Hsp25-2

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141148090-141152621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141151245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 129 (E129G)

Ref Sequence

ENSEMBL: ENSMUSP00000099544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102486]

AlphaFold

P35385

Predicted Effect

probably damaging
Transcript: ENSMUST00000102486
AA Change: E129G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E129G

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:HSP20	73	168	8.6e-16	PFAM

Meta Mutation Damage Score

0.6792

Coding Region Coverage

1x: 81.9%
3x: 73.7%
10x: 53.7%
20x: 34.5%

Validation Efficiency

94% (58/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show embryonic lethality during organogenesis and defects in heart development associated with increased thin filament length and formation of atypical actin filament bundles in cardiomyocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Adgrf3	A	G	5: 30,402,426 (GRCm39)	L534P	probably damaging	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Fam120a	A	G	13: 49,087,490 (GRCm39)	V290A	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
H2-Q3	A	G	17: 35,578,823 (GRCm39)		noncoding transcript	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Rbl1	A	G	2: 157,017,624 (GRCm39)		probably benign	Het
Rdh10	T	A	1: 16,178,260 (GRCm39)		probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Tmod4	T	C	3: 95,037,099 (GRCm39)	D164G	possibly damaging	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Utp18	G	T	11: 93,766,684 (GRCm39)	T309K	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het

Other mutations in Hspb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02504:Hspb7	APN	4	141,149,131 (GRCm39)	missense	probably benign	0.33
IGL03388:Hspb7	APN	4	141,151,356 (GRCm39)	missense	probably damaging	1.00
R0077:Hspb7	UTSW	4	141,151,358 (GRCm39)	missense	probably damaging	0.97
R0147:Hspb7	UTSW	4	141,151,302 (GRCm39)	missense	probably damaging	1.00
R0148:Hspb7	UTSW	4	141,151,302 (GRCm39)	missense	probably damaging	1.00
R4368:Hspb7	UTSW	4	141,151,329 (GRCm39)	missense	probably damaging	0.98
R4717:Hspb7	UTSW	4	141,149,896 (GRCm39)	missense	probably damaging	1.00
R6039:Hspb7	UTSW	4	141,151,215 (GRCm39)	missense	probably damaging	0.98
R6039:Hspb7	UTSW	4	141,151,215 (GRCm39)	missense	probably damaging	0.98
R6165:Hspb7	UTSW	4	141,149,862 (GRCm39)	missense	probably benign	0.26
R6361:Hspb7	UTSW	4	141,149,860 (GRCm39)	missense	possibly damaging	0.47
R7087:Hspb7	UTSW	4	141,149,866 (GRCm39)	missense	possibly damaging	0.88
R7769:Hspb7	UTSW	4	141,151,335 (GRCm39)	missense	possibly damaging	0.93
R8238:Hspb7	UTSW	4	141,149,857 (GRCm39)	missense	probably damaging	1.00
R9424:Hspb7	UTSW	4	141,149,241 (GRCm39)	missense	possibly damaging	0.53
X0026:Hspb7	UTSW	4	141,151,338 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-21