Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Bag3'

238492

Institutional Source

Beutler Lab

Gene Symbol

Bag3

Ensembl Gene

ENSMUSG00000030847

Gene Name

BCL2-associated athanogene 3

Synonyms

Bcl-2-interacting death suppressor, Bis

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2198 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

128125340-128148705 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AAAGG to AAAGGAAGG at 128147493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033136]

AlphaFold

Q9JLV1

PDB Structure

Solution structure of the Murine BAG domain of Bcl2-associated athanogene 3 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000033136

SMART Domains

Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847

Domain	Start	End	E-Value	Type
WW	23	56	1.49e-11	SMART
internal_repeat_1	90	151	3.37e-5	PROSPERO
low complexity region	158	171	N/A	INTRINSIC
low complexity region	176	204	N/A	INTRINSIC
internal_repeat_1	206	283	3.37e-5	PROSPERO
low complexity region	372	392	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC
BAG	426	503	9.22e-27	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomyocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Bag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Bag3	APN	7	128,148,065 (GRCm39)	missense	probably benign	0.03
IGL01942:Bag3	APN	7	128,148,024 (GRCm39)	missense	probably benign	0.00
PIT4377001:Bag3	UTSW	7	128,147,441 (GRCm39)	missense	probably damaging	1.00
R0577:Bag3	UTSW	7	128,125,611 (GRCm39)	missense	probably benign	0.00
R1730:Bag3	UTSW	7	128,125,583 (GRCm39)	start codon destroyed	possibly damaging	0.89
R1991:Bag3	UTSW	7	128,147,407 (GRCm39)	missense	probably benign
R2065:Bag3	UTSW	7	128,147,498 (GRCm39)	missense	probably damaging	0.96
R2201:Bag3	UTSW	7	128,147,493 (GRCm39)	frame shift	probably null
R3407:Bag3	UTSW	7	128,147,493 (GRCm39)	frame shift	probably null
R3407:Bag3	UTSW	7	128,147,492 (GRCm39)	frame shift	probably null
R3408:Bag3	UTSW	7	128,147,493 (GRCm39)	frame shift	probably null
R3765:Bag3	UTSW	7	128,141,995 (GRCm39)	missense	probably benign	0.30
R4201:Bag3	UTSW	7	128,147,881 (GRCm39)	missense	probably damaging	1.00
R4430:Bag3	UTSW	7	128,125,647 (GRCm39)	missense	probably damaging	0.99
R5642:Bag3	UTSW	7	128,147,830 (GRCm39)	missense	probably damaging	1.00
R6112:Bag3	UTSW	7	128,143,556 (GRCm39)	missense	probably damaging	0.99
R6298:Bag3	UTSW	7	128,141,922 (GRCm39)	missense	probably damaging	0.99
R8145:Bag3	UTSW	7	128,147,612 (GRCm39)	missense	possibly damaging	0.71
R9216:Bag3	UTSW	7	128,143,923 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCGCCTGCTATTAACCACG -3'
(R):5'- CAGCACACCTGGATGCTTAG -3'

Sequencing Primer
(F):5'- CGCCTGCTATTAACCACGAATTATTG -3'
(R):5'- CACCTGGATGCTTAGGGGGTG -3'

Posted On

2014-10-02