Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Bag4'

353015

Institutional Source

Beutler Lab

Gene Symbol

Bag4

Ensembl Gene

ENSMUSG00000037316

Gene Name

BCL2-associated athanogene 4

Synonyms

2410112I15Rik

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

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

Stock #

R4663 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Armc5	C	A	7: 127,837,717 (GRCm39)	A140E	probably benign	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Fbxo3	T	C	2: 103,883,820 (GRCm39)	V348A	probably damaging	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,439,563 (GRCm39)	C488F	probably benign	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lrriq1	T	C	10: 102,899,273 (GRCm39)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	probably benign	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
R4708:Bag4	UTSW	8	26,259,516 (GRCm39)	missense	probably benign
R4710: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'- GAGCCAGGTTTTCTCAGGTG -3'

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

Posted On

2015-10-08