Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03388:Hspb7'

420963

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspb7

Ensembl Gene

ENSMUSG00000006221

Gene Name

heat shock protein family, member 7 (cardiovascular)

Synonyms

cvHsp, Hsp25-2

Accession Numbers

Essential gene?

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

Stock #

IGL03388

Quality Score

Status

Chromosome

Chromosomal Location

141148090-141152621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141151356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 166 (E166G)

Ref Sequence

ENSEMBL: ENSMUSP00000099544 (fasta)

Gene Model

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

AlphaFold

P35385

Predicted Effect

probably damaging
Transcript: ENSMUST00000102486
AA Change: E166G

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

SMART Domains

Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E166G

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,693,596 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,801 (GRCm39)	K340R	possibly damaging	Het
Ccr3	A	G	9: 123,828,658 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,992 (GRCm39)		probably benign	Het
Clasp1	T	A	1: 118,433,233 (GRCm39)	D237E	possibly damaging	Het
Ddx18	T	C	1: 121,493,652 (GRCm39)	K111E	possibly damaging	Het
Defa21	T	C	8: 21,515,764 (GRCm39)	L54P	probably damaging	Het
Dennd3	T	C	15: 73,416,208 (GRCm39)	V486A	probably damaging	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnm1l	A	G	16: 16,131,916 (GRCm39)		probably benign	Het
Epb41	T	C	4: 131,702,105 (GRCm39)	Y510C	probably damaging	Het
Fat4	T	C	3: 39,011,376 (GRCm39)	Y2159H	probably damaging	Het
Fmo1	A	G	1: 162,663,716 (GRCm39)	V271A	probably benign	Het
Gm12185	A	G	11: 48,799,113 (GRCm39)	V460A	probably benign	Het
Hspa8	T	C	9: 40,716,224 (GRCm39)		probably benign	Het
Il31ra	C	A	13: 112,682,746 (GRCm39)	S120I	probably damaging	Het
Kdm5b	A	G	1: 134,555,060 (GRCm39)	T1323A	probably benign	Het
Lgals9	T	A	11: 78,854,247 (GRCm39)	I346F	probably damaging	Het
Lgi2	T	C	5: 52,695,819 (GRCm39)	D372G	probably damaging	Het
Magi3	A	C	3: 103,923,157 (GRCm39)	S1187A	probably benign	Het
Nr1d2	A	G	14: 18,215,403 (GRCm38)	F203S	probably benign	Het
Nup210l	G	A	3: 90,077,351 (GRCm39)	V896I	probably damaging	Het
Nxf7	T	C	X: 134,485,489 (GRCm39)	K440E	probably damaging	Het
Or6c206	A	T	10: 129,097,312 (GRCm39)	I161F	probably benign	Het
Or9i1b	T	A	19: 13,896,984 (GRCm39)	V200D	probably damaging	Het
Pcdhb6	T	C	18: 37,469,190 (GRCm39)	S20P	probably damaging	Het
Per2	G	T	1: 91,372,511 (GRCm39)		probably benign	Het
Pi15	G	A	1: 17,673,001 (GRCm39)	A67T	probably benign	Het
Pnp2	A	T	14: 51,200,995 (GRCm39)	N160I	probably damaging	Het
Ppp1r12c	A	G	7: 4,485,069 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,561,093 (GRCm39)		probably null	Het
Rnf115	G	A	3: 96,695,984 (GRCm39)	V257M	probably damaging	Het
Rtkn	T	A	6: 83,127,071 (GRCm39)	V346D	probably benign	Het
Rubcn	A	T	16: 32,661,938 (GRCm39)	N427K	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sel1l2	A	C	2: 140,105,284 (GRCm39)		probably benign	Het
Septin4	T	A	11: 87,459,042 (GRCm39)	L472*	probably null	Het
Slc5a5	A	G	8: 71,342,972 (GRCm39)	V196A	probably benign	Het
Sox13	A	T	1: 133,316,686 (GRCm39)	L207H	probably damaging	Het
Tmtc2	A	G	10: 105,157,344 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,720,907 (GRCm39)	K1409R	probably damaging	Het
Ttn	C	T	2: 76,797,481 (GRCm39)	A528T	probably benign	Het
Ubr4	T	C	4: 139,142,343 (GRCm39)	I1310T	probably damaging	Het
Ypel5	T	C	17: 73,153,400 (GRCm39)	F35L	probably damaging	Het
Zfp13	G	T	17: 23,795,888 (GRCm39)	R228S	probably benign	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
R0042:Hspb7	UTSW	4	141,151,245 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02