Mutagenetix > Incidental Mutation

Incidental Mutation 'R6361:Hspb7'

513111

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

044511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6361 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141148090-141152621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141149860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 82 (E82G)

Ref Sequence

ENSEMBL: ENSMUSP00000099544 (fasta)

Gene Model

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

AlphaFold

P35385

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102486
AA Change: E82G

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099544
Gene: ENSMUSG00000006221
AA Change: E82G

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap1	C	T	15: 64,221,672 (GRCm39)		probably null	Het
Cabin1	G	A	10: 75,562,699 (GRCm39)	A29V	possibly damaging	Het
Cadps	G	A	14: 12,491,778 (GRCm38)	Q791*	probably null	Het
Cdc14b	T	C	13: 64,364,023 (GRCm39)		probably null	Het
Cep89	C	T	7: 35,097,472 (GRCm39)	P33S	probably damaging	Het
Clec18a	A	G	8: 111,807,661 (GRCm39)		probably benign	Het
Cln5	T	A	14: 103,313,637 (GRCm39)	D296E	probably benign	Het
Col6a4	A	T	9: 105,943,902 (GRCm39)	S1191T	probably benign	Het
Crispld1	A	G	1: 17,832,455 (GRCm39)	I480M	probably damaging	Het
Dhrs7	A	C	12: 72,711,433 (GRCm39)	L32V	probably damaging	Het
Dscam	T	C	16: 96,424,011 (GRCm39)	T1645A	probably benign	Het
Eif2b3	A	G	4: 116,885,622 (GRCm39)	T55A	possibly damaging	Het
Ercc6	T	C	14: 32,239,067 (GRCm39)	Y52H	probably benign	Het
Fam170b	C	A	14: 32,558,028 (GRCm39)	Q288K	unknown	Het
Flt4	A	G	11: 49,521,405 (GRCm39)	T442A	probably benign	Het
Gm19402	A	T	10: 77,525,895 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,403,832 (GRCm39)	I87T	probably damaging	Het
Itgb3	A	G	11: 104,556,408 (GRCm39)	K750E	possibly damaging	Het
Itsn2	A	G	12: 4,679,655 (GRCm39)	M155V	probably benign	Het
Marchf8	A	T	6: 116,379,062 (GRCm39)	D332V	probably null	Het
Mst1r	A	G	9: 107,793,052 (GRCm39)	M1042V	probably benign	Het
Muc4	T	C	16: 32,587,725 (GRCm39)	F2756L	probably benign	Het
Myl6b	T	A	10: 128,333,078 (GRCm39)	K55*	probably null	Het
Or1j19	A	G	2: 36,676,792 (GRCm39)	N85S	probably damaging	Het
Or4c123	A	T	2: 89,126,990 (GRCm39)	I208N	probably damaging	Het
Or4k51	G	T	2: 111,584,940 (GRCm39)	L115F	probably damaging	Het
Or7g18	T	C	9: 18,787,027 (GRCm39)	Y132H	probably damaging	Het
Or8g50	A	C	9: 39,648,968 (GRCm39)	N286H	probably damaging	Het
Pcca	A	G	14: 122,875,794 (GRCm39)	D141G	probably benign	Het
Pkd2	C	T	5: 104,634,546 (GRCm39)	R526*	probably null	Het
Polr2a	C	A	11: 69,634,163 (GRCm39)	A756S	probably damaging	Het
Prkd2	T	C	7: 16,581,579 (GRCm39)	S145P	probably damaging	Het
Rhbdf1	T	C	11: 32,162,915 (GRCm39)	N451D	possibly damaging	Het
Rundc3a	G	A	11: 102,291,621 (GRCm39)	R358Q	probably damaging	Het
Spata31g1	A	T	4: 42,972,695 (GRCm39)	D676V	probably benign	Het
Spef1l	T	A	7: 139,556,585 (GRCm39)	D134V	possibly damaging	Het
Tbc1d4	T	C	14: 101,744,610 (GRCm39)	K339E	probably damaging	Het
Usp37	A	G	1: 74,493,052 (GRCm39)	I723T	probably benign	Het
Vwa2	A	T	19: 56,889,958 (GRCm39)		probably null	Het
Zdbf2	A	C	1: 63,342,480 (GRCm39)	R286S	possibly damaging	Het
Zfp422	G	A	6: 116,603,781 (GRCm39)	H73Y	probably damaging	Het
Zfp868	T	C	8: 70,064,564 (GRCm39)	H257R	probably damaging	Het
Zzef1	A	G	11: 72,775,175 (GRCm39)	S1723G	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
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
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'- GACACAGATTGAGGTGCGTG -3'
(R):5'- ACATAAATCAGGGTACGAAGCC -3'

Sequencing Primer
(F):5'- ATTGAGGTGCGTGAGGCTCAC -3'
(R):5'- TACGAAGCCTACAAAGATAGGG -3'

Posted On

2018-04-27