Mutagenetix > Incidental Mutation

Incidental Mutation 'R4710:Bag4'

353212

Institutional Source

Beutler Lab

Gene Symbol

Bag4

Ensembl Gene

ENSMUSG00000037316

Gene Name

BCL2-associated athanogene 4

Synonyms

2410112I15Rik

MMRRC Submission

042019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R4710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26254566-26275237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26259516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 228 (A228T)

Ref Sequence

ENSEMBL: ENSMUSP00000044725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038498]

AlphaFold

Q8CI61

Predicted Effect

probably benign
Transcript: ENSMUST00000038498
AA Change: A228T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: A228T

Domain	Start	End	E-Value	Type
low complexity region	5	49	N/A	INTRINSIC
low complexity region	64	79	N/A	INTRINSIC
low complexity region	131	146	N/A	INTRINSIC
low complexity region	255	268	N/A	INTRINSIC
low complexity region	276	301	N/A	INTRINSIC
BAG	379	456	3.66e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167899

SMART Domains

Protein: ENSMUSP00000130277
Gene: ENSMUSG00000091514

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210103

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant animals may show enhanced cytokine response and increased IL-6 production following TNF challenge. Studies on two different alleles of this gene are not in agreement. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,618,262 (GRCm39)	Q185L	probably benign	Het
Acaca	T	A	11: 84,283,163 (GRCm39)	I2243N	possibly damaging	Het
Adamts18	A	G	8: 114,433,558 (GRCm39)	S1059P	probably damaging	Het
Aox4	A	T	1: 58,294,797 (GRCm39)	K1002M	probably damaging	Het
Ap1b1	A	G	11: 4,981,664 (GRCm39)	Y524C	probably damaging	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cntn2	T	A	1: 132,455,963 (GRCm39)	H185L	possibly damaging	Het
Col4a2	C	A	8: 11,459,462 (GRCm39)	P299Q	probably benign	Het
Commd3	A	G	2: 18,679,093 (GRCm39)	N106S	probably benign	Het
Coro7	T	G	16: 4,452,797 (GRCm39)		probably benign	Het
Ctf1	C	A	7: 127,316,252 (GRCm39)	P66Q	probably damaging	Het
Dclre1c	T	C	2: 3,441,898 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,529,493 (GRCm39)	L317Q	probably damaging	Het
Dnah2	A	G	11: 69,368,903 (GRCm39)	L1667P	probably damaging	Het
Dpp4	A	G	2: 62,190,659 (GRCm39)	I399T	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Erg	T	C	16: 95,190,893 (GRCm39)	D90G	possibly damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Gimd1	T	C	3: 132,340,609 (GRCm39)	S42P	possibly damaging	Het
Gm5526	T	A	1: 45,896,579 (GRCm39)		noncoding transcript	Het
Gnl2	T	A	4: 124,947,252 (GRCm39)	S625T	probably benign	Het
H2-Q2	A	G	17: 35,562,278 (GRCm39)	E175G	probably damaging	Het
Hmgxb3	G	A	18: 61,270,547 (GRCm39)	P926S	probably damaging	Het
Ifi213	G	A	1: 173,394,738 (GRCm39)		probably benign	Het
Inhba	T	C	13: 16,201,068 (GRCm39)	V210A	probably benign	Het
Kansl1l	G	A	1: 66,840,655 (GRCm39)	A215V	possibly damaging	Het
Kcnk1	T	A	8: 126,756,267 (GRCm39)	V263D	probably damaging	Het
Kcnk9	A	G	15: 72,384,824 (GRCm39)	I118T	probably damaging	Het
Lamb1	A	G	12: 31,332,582 (GRCm39)	I283V	probably benign	Het
Larp7-ps	T	C	4: 92,079,212 (GRCm39)	E203G	possibly damaging	Het
Lias	A	G	5: 65,555,070 (GRCm39)	D88G	probably benign	Het
Lrrk2	G	A	15: 91,584,130 (GRCm39)	V297M	possibly damaging	Het
Maea	C	T	5: 33,526,034 (GRCm39)	R237C	probably benign	Het
Mdfi	T	A	17: 48,135,511 (GRCm39)	N73I	probably damaging	Het
Mphosph6	T	A	8: 118,528,641 (GRCm39)	M1L	probably damaging	Het
Mta2	T	A	19: 8,926,517 (GRCm39)	I486N	probably damaging	Het
Nbr1	C	T	11: 101,466,101 (GRCm39)	P769L	probably damaging	Het
Ncam2	T	A	16: 81,262,594 (GRCm39)		probably null	Het
Ndel1	A	G	11: 68,736,163 (GRCm39)	Y26H	probably damaging	Het
Neb	T	C	2: 52,150,610 (GRCm39)	R2473G	probably benign	Het
Or10ag53	T	A	2: 87,082,384 (GRCm39)	D34E	possibly damaging	Het
Or2t46	A	T	11: 58,472,548 (GRCm39)	I293F	probably damaging	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or5h19	T	A	16: 58,856,638 (GRCm39)	H154L	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Prkn	A	C	17: 12,073,720 (GRCm39)	Q346P	possibly damaging	Het
Prrc2b	T	A	2: 32,083,869 (GRCm39)	S236R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Rnf112	T	C	11: 61,340,657 (GRCm39)	D491G	probably damaging	Het
Rnf220	C	T	4: 117,146,411 (GRCm39)		probably benign	Het
Ryr3	G	A	2: 112,596,646 (GRCm39)	L2483F	probably damaging	Het
Sema6a	T	C	18: 47,403,750 (GRCm39)	N624S	probably benign	Het
Sgms1	C	T	19: 32,137,537 (GRCm39)	V10M	probably damaging	Het
Slc23a2	T	C	2: 131,898,629 (GRCm39)	N636S	probably benign	Het
Slc25a48	C	T	13: 56,611,379 (GRCm39)	T162I	probably damaging	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Snrnp200	T	C	2: 127,068,053 (GRCm39)	L850P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox18	A	G	2: 181,312,688 (GRCm39)	Y148H	probably damaging	Het
Stk-ps1	A	G	17: 36,708,562 (GRCm39)		noncoding transcript	Het
Tas2r104	T	A	6: 131,662,407 (GRCm39)	T101S	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn2r4	A	G	3: 64,317,201 (GRCm39)		probably null	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfat	A	T	15: 68,052,131 (GRCm39)	D554E	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het

Other mutations in Bag4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Bag4	APN	8	26,261,253 (GRCm39)	missense	probably benign
IGL02074:Bag4	APN	8	26,259,383 (GRCm39)	missense	possibly damaging	0.87
IGL02129:Bag4	APN	8	26,258,113 (GRCm39)	missense	probably damaging	1.00
IGL02183:Bag4	APN	8	26,258,058 (GRCm39)	missense	probably damaging	1.00
IGL02441:Bag4	APN	8	26,258,136 (GRCm39)	missense	probably damaging	1.00
R0414:Bag4	UTSW	8	26,258,025 (GRCm39)	missense	possibly damaging	0.91
R1103:Bag4	UTSW	8	26,257,891 (GRCm39)	utr 3 prime	probably benign
R1423:Bag4	UTSW	8	26,258,302 (GRCm39)	missense	probably damaging	0.99
R1650:Bag4	UTSW	8	26,267,452 (GRCm39)	missense	probably damaging	0.99
R2045:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R2333:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R2945:Bag4	UTSW	8	26,261,280 (GRCm39)	missense	probably benign	0.08
R3124:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R3125:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4428:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4429:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4431:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4467:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4482:Bag4	UTSW	8	26,275,072 (GRCm39)	unclassified	probably benign
R4538:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4539:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4541:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4542:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4663:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4708:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4732:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4733:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4970:Bag4	UTSW	8	26,261,272 (GRCm39)	nonsense	probably null
R5175:Bag4	UTSW	8	26,258,379 (GRCm39)	missense	probably damaging	0.99
R6032:Bag4	UTSW	8	26,267,521 (GRCm39)	missense	probably damaging	1.00
R6032:Bag4	UTSW	8	26,267,521 (GRCm39)	missense	probably damaging	1.00
R6084:Bag4	UTSW	8	26,261,259 (GRCm39)	missense	probably benign	0.00
R6595:Bag4	UTSW	8	26,259,528 (GRCm39)	missense	probably damaging	1.00
R6596:Bag4	UTSW	8	26,259,528 (GRCm39)	missense	probably damaging	1.00
R7564:Bag4	UTSW	8	26,267,507 (GRCm39)	nonsense	probably null
R7606:Bag4	UTSW	8	26,259,333 (GRCm39)	missense	probably damaging	0.99
R9225:Bag4	UTSW	8	26,261,270 (GRCm39)	missense	probably benign
R9323:Bag4	UTSW	8	26,275,180 (GRCm39)	nonsense	probably null
R9323:Bag4	UTSW	8	26,261,361 (GRCm39)	missense	possibly damaging	0.74
R9572:Bag4	UTSW	8	26,258,303 (GRCm39)	nonsense	probably null
R9781:Bag4	UTSW	8	26,259,564 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTACCTTAGGCTGCTGAG -3'
(R):5'- AGCCAGGTTTTCTCAGGTG -3'

Sequencing Primer
(F):5'- CCTTAGGCTGCTGAGGTGGG -3'
(R):5'- CTCAGGTGTGGAGAACTTTTGGTAAC -3'

Posted On

2015-10-21