Mutagenetix > Incidental Mutation

Incidental Mutation 'R4368:Hspb7'

325843

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

041115-MU

Accession Numbers

Essential gene?

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

Stock #

R4368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141148090-141152621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141151329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 157 (E157V)

Ref Sequence

ENSEMBL: ENSMUSP00000099544 (fasta)

Gene Model

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

AlphaFold

P35385

Predicted Effect

probably damaging
Transcript: ENSMUST00000102486
AA Change: E157V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E157V

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

0.4355

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (46/47)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	G	3: 59,754,199 (GRCm39)		noncoding transcript	Het
Aadacl2fm2	T	C	3: 59,659,387 (GRCm39)	F280S	probably damaging	Het
Adamts7	G	A	9: 90,077,904 (GRCm39)		probably null	Het
Adgrv1	A	C	13: 81,641,029 (GRCm39)	S3335R	unknown	Het
Armc6	G	A	8: 70,677,943 (GRCm39)	L129F	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bltp1	C	T	3: 37,042,296 (GRCm39)	Q2761*	probably null	Het
Cdh19	G	A	1: 110,817,442 (GRCm39)	Q767*	probably null	Het
Cep120	G	A	18: 53,818,957 (GRCm39)		probably null	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Efr3a	T	A	15: 65,738,629 (GRCm39)	F753I	possibly damaging	Het
Irx6	A	G	8: 93,405,029 (GRCm39)	E299G	probably damaging	Het
Jhy	T	A	9: 40,828,440 (GRCm39)	N489Y	possibly damaging	Het
Klhl22	T	C	16: 17,607,137 (GRCm39)	V481A	possibly damaging	Het
Mapk13	A	G	17: 28,996,539 (GRCm39)		probably null	Het
Meis1	A	T	11: 18,960,656 (GRCm39)		probably benign	Het
Nlrp14	A	G	7: 106,797,012 (GRCm39)	K301E	probably benign	Het
Nol10	T	C	12: 17,429,293 (GRCm39)	Y340H	probably damaging	Het
Or2k2	T	C	4: 58,785,153 (GRCm39)	S190G	probably benign	Het
Paqr3	T	C	5: 97,256,150 (GRCm39)	S75G	probably damaging	Het
Pdgfa	T	C	5: 138,972,061 (GRCm39)	T113A	probably damaging	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Psph	T	G	5: 129,848,654 (GRCm39)	K9T	probably benign	Het
Ptpn21	T	C	12: 98,644,852 (GRCm39)	Y1163C	probably damaging	Het
Scaf8	T	C	17: 3,221,470 (GRCm39)	L319P	unknown	Het
Slc4a7	C	T	14: 14,733,775 (GRCm38)	R62W	probably damaging	Het
Slc6a3	C	A	13: 73,709,031 (GRCm39)	C318*	probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Taf1c	A	C	8: 120,326,055 (GRCm39)	S602R	possibly damaging	Het
Tiam2	A	G	17: 3,464,958 (GRCm39)	D229G	probably benign	Het
Tor1a	A	G	2: 30,857,382 (GRCm39)		probably benign	Het
Trim45	T	C	3: 100,830,502 (GRCm39)	I92T	probably damaging	Het
Ttll8	G	A	15: 88,798,384 (GRCm39)	P784S	possibly damaging	Het
Tubg1	G	T	11: 101,016,190 (GRCm39)		probably null	Het
Vmn1r178	A	T	7: 23,593,447 (GRCm39)	N92I	probably damaging	Het
Vmn2r87	A	G	10: 130,315,676 (GRCm39)	V130A	probably benign	Het
Wdr46	A	G	17: 34,160,120 (GRCm39)		probably benign	Het
Yme1l1	A	G	2: 23,050,223 (GRCm39)	H18R	possibly damaging	Het
Zfp263	T	A	16: 3,562,770 (GRCm39)		probably benign	Het
Zfp534	T	C	4: 147,760,015 (GRCm39)	D218G	probably benign	Het
Zscan12	T	C	13: 21,553,553 (GRCm39)	V459A	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
IGL03388:Hspb7	APN	4	141,151,356 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAAAGACGAGACTCTGGC -3'
(R):5'- TCTATCTGGGTGAGAGCAGAC -3'

Sequencing Primer
(F):5'- AAAGACGAGACTCTGGCTTGATTTTG -3'
(R):5'- TGAGAGCAGACAGGTCCCTG -3'

Posted On

2015-07-06