Mutagenetix > Incidental Mutation

Incidental Mutation 'R8145:Bag3'

632749

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

067573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128125340-128148705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128147612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 409 (E409G)

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

possibly damaging
Transcript: ENSMUST00000033136
AA Change: E409G

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847
AA Change: E409G

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: 99.7%
3x: 99.5%
10x: 97.9%
20x: 90.4%

Validation Efficiency

100% (79/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	A	T	4: 99,634,564 (GRCm39)	D273V	probably damaging	Het
Ankk1	T	A	9: 49,327,097 (GRCm39)	H694L	possibly damaging	Het
Asb7	G	T	7: 66,309,696 (GRCm39)	N173K	probably benign	Het
Atp10b	A	T	11: 43,092,949 (GRCm39)	Q428L	probably damaging	Het
Bltp1	T	C	3: 37,052,416 (GRCm39)	S3039P	probably damaging	Het
Bpifb2	T	A	2: 153,733,232 (GRCm39)	V398E	probably damaging	Het
Btf3l4b	A	T	13: 96,217,649 (GRCm39)	D63E	probably benign	Het
Ccr6	T	C	17: 8,474,945 (GRCm39)	V50A	probably benign	Het
Cdcp3	G	T	7: 130,898,045 (GRCm39)	V2088L	unknown	Het
Cdx1	T	C	18: 61,152,995 (GRCm39)	N204D	probably damaging	Het
Ciao1	T	C	2: 127,087,726 (GRCm39)	D203G	possibly damaging	Het
Cldn7	A	T	11: 69,856,892 (GRCm39)	Y47F	possibly damaging	Het
Col6a1	A	T	10: 76,559,305 (GRCm39)	D110E	possibly damaging	Het
Cpne6	C	A	14: 55,752,025 (GRCm39)	Q261K	probably benign	Het
Crebbp	T	C	16: 3,946,389 (GRCm39)	T497A	probably benign	Het
Cyp2s1	A	G	7: 25,507,467 (GRCm39)		probably null	Het
Ddx42	A	T	11: 106,130,887 (GRCm39)	I454F	possibly damaging	Het
Ddx5	G	T	11: 106,672,911 (GRCm39)	A538E	probably benign	Het
Dnajb1	T	A	8: 84,336,944 (GRCm39)	V238D	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Eif4b	A	G	15: 102,001,423 (GRCm39)	T437A	unknown	Het
Eppk1	T	C	15: 75,990,900 (GRCm39)	T1994A	possibly damaging	Het
Fbxw15	A	T	9: 109,384,658 (GRCm39)	C381S	probably benign	Het
Fosl2	T	A	5: 32,310,412 (GRCm39)	V287D	probably damaging	Het
Gdpd4	A	G	7: 97,690,077 (GRCm39)	T590A	probably benign	Het
Gm49368	A	G	7: 127,712,487 (GRCm39)	E877G	probably null	Het
Grin2b	C	T	6: 135,709,497 (GRCm39)	A1350T	probably benign	Het
Gzmk	A	G	13: 113,308,430 (GRCm39)	L257P	probably damaging	Het
Has2	T	A	15: 56,545,175 (GRCm39)	K142N	probably benign	Het
Hectd1	T	C	12: 51,831,016 (GRCm39)	E944G	possibly damaging	Het
Hmcn1	T	C	1: 150,629,411 (GRCm39)	R949G	probably benign	Het
Hmcn2	A	G	2: 31,313,117 (GRCm39)	E3442G	probably damaging	Het
Irf9	T	A	14: 55,843,255 (GRCm39)	C152*	probably null	Het
Itga3	A	G	11: 94,943,290 (GRCm39)	W936R	probably damaging	Het
Klhl11	G	T	11: 100,354,740 (GRCm39)	D360E	probably damaging	Het
Lnx1	G	A	5: 74,846,060 (GRCm39)	T130I	probably benign	Het
Lrrc36	C	T	8: 106,170,396 (GRCm39)	P82L	probably damaging	Het
Map4k4	T	C	1: 40,039,694 (GRCm39)	C29R		Het
Mki67	T	C	7: 135,296,065 (GRCm39)	K2990E	probably benign	Het
Mnt	G	A	11: 74,733,799 (GRCm39)	A477T	unknown	Het
Mroh9	A	G	1: 162,890,096 (GRCm39)	S214P	probably benign	Het
Mrps18b	C	A	17: 36,225,293 (GRCm39)	R94L	possibly damaging	Het
Myh6	T	A	14: 55,191,382 (GRCm39)	I820F	probably benign	Het
Nphp3	A	G	9: 103,913,050 (GRCm39)	T943A	probably benign	Het
Or51a25	C	A	7: 102,372,937 (GRCm39)	L253F	probably damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Papolb	T	C	5: 142,514,353 (GRCm39)	D430G	probably benign	Het
Pdzd2	T	C	15: 12,407,458 (GRCm39)	H334R	probably benign	Het
Pkd1l2	T	A	8: 117,781,742 (GRCm39)	M768L	probably benign	Het
Pklr	G	T	3: 89,052,795 (GRCm39)	R547L	probably benign	Het
Pla2g4a	T	C	1: 149,716,394 (GRCm39)	Y697C	probably benign	Het
Prkcd	T	C	14: 30,324,019 (GRCm39)	T435A	probably benign	Het
Rfx1	C	T	8: 84,800,657 (GRCm39)	P86L	probably benign	Het
Rnf19b	C	A	4: 128,977,862 (GRCm39)	A693D	probably benign	Het
Scn9a	A	G	2: 66,317,754 (GRCm39)	I1578T	probably damaging	Het
Slamf9	A	G	1: 172,303,942 (GRCm39)	S96G	probably benign	Het
Slc17a8	T	C	10: 89,412,233 (GRCm39)	D584G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc2a7	C	A	4: 150,252,818 (GRCm39)	T486K	probably damaging	Het
Slc6a20a	G	A	9: 123,466,065 (GRCm39)	A592V	probably damaging	Het
Spz1	T	C	13: 92,711,609 (GRCm39)	D289G	probably benign	Het
Sspo	G	A	6: 48,444,683 (GRCm39)	C2226Y	possibly damaging	Het
Taf4b	T	G	18: 14,963,085 (GRCm39)	D608E	probably damaging	Het
Tagap1	A	T	17: 7,223,526 (GRCm39)	I390N	probably damaging	Het
Tcp11l2	A	G	10: 84,444,480 (GRCm39)	N430D	probably damaging	Het
Thsd7b	T	C	1: 129,688,036 (GRCm39)	L649P	probably damaging	Het
Tmprss15	C	T	16: 78,757,473 (GRCm39)	G956R	probably damaging	Het
Tnc	G	T	4: 63,935,716 (GRCm39)	Q407K	probably benign	Het
Tti1	C	A	2: 157,849,509 (GRCm39)	E577*	probably null	Het
Vmn2r79	A	T	7: 86,686,862 (GRCm39)	M748L	probably benign	Het
Zbtb37	C	T	1: 160,847,654 (GRCm39)	R451Q	probably damaging	Het
Zfp1002	T	C	2: 150,096,455 (GRCm39)	K325E	probably benign	Het
Zfp566	A	T	7: 29,777,785 (GRCm39)	I132N	probably benign	Het
Zik1	C	T	7: 10,223,930 (GRCm39)	G389E	probably damaging	Het
Zzef1	A	T	11: 72,799,295 (GRCm39)	K2382*	probably null	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
R2198:Bag3	UTSW	7	128,147,493 (GRCm39)	frame shift	probably null
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
R9216:Bag3	UTSW	7	128,143,923 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCCATCCAAGTGATCCGAAG -3'
(R):5'- TTCAGGGTCTACGGAATCCAG -3'

Sequencing Primer
(F):5'- CGAAGGGAGGCAGACTCTAAGC -3'
(R):5'- TCTACGGAATCCAGGGCCAG -3'

Posted On

2020-06-30