Mutagenetix > Incidental Mutation

Incidental Mutation 'R4708:Bag4'

355419

Institutional Source

Beutler Lab

Gene Symbol

Bag4

Ensembl Gene

ENSMUSG00000037316

Gene Name

BCL2-associated athanogene 4

Synonyms

2410112I15Rik

MMRRC Submission

042017-MU

Accession Numbers

Essential gene?

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

Stock #

R4708 (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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,261,309 (GRCm39)	G2D	probably damaging	Het
4930505A04Rik	T	C	11: 30,404,717 (GRCm39)	Y62C	probably damaging	Het
Aadacl4	A	C	4: 144,349,899 (GRCm39)	K385N	probably benign	Het
Abcb4	A	T	5: 8,965,125 (GRCm39)	T332S	possibly damaging	Het
Aco2	G	A	15: 81,794,117 (GRCm39)		probably null	Het
Aplf	G	T	6: 87,640,739 (GRCm39)	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,224,388 (GRCm39)		probably benign	Het
B4galnt1	T	A	10: 127,005,684 (GRCm39)	Y262N	probably damaging	Het
Ccdc62	T	G	5: 124,068,925 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,579,871 (GRCm39)	I649K	probably benign	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cep290	A	G	10: 100,359,126 (GRCm39)	K952R	probably benign	Het
Ces2a	A	G	8: 105,463,938 (GRCm39)	H190R	probably benign	Het
Clec14a	A	G	12: 58,314,489 (GRCm39)	S378P	probably benign	Het
Col27a1	A	G	4: 63,202,150 (GRCm39)	Q947R	probably benign	Het
Dennd3	A	G	15: 73,395,344 (GRCm39)	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970 (GRCm39)	M486L	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,170,323 (GRCm39)	H125Q	probably damaging	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Fubp3	C	T	2: 31,498,122 (GRCm39)	T92I	probably benign	Het
Gm19426	T	C	2: 84,573,803 (GRCm39)		probably null	Het
Gtf2ird2	A	G	5: 134,245,140 (GRCm39)	H466R	probably damaging	Het
Hdac5	T	C	11: 102,093,019 (GRCm39)	S573G	probably damaging	Het
Iars2	A	T	1: 185,021,554 (GRCm39)	M916K	probably benign	Het
Insr	A	T	8: 3,261,346 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ivl	T	A	3: 92,479,057 (GRCm39)	K336I	probably damaging	Het
Kcng2	A	G	18: 80,366,067 (GRCm39)	I95T	probably damaging	Het
Lap3	A	G	5: 45,668,480 (GRCm39)	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,787,005 (GRCm39)	H115R	probably benign	Het
Morc3	T	C	16: 93,670,126 (GRCm39)	V767A	probably benign	Het
Mttp	A	G	3: 137,839,859 (GRCm39)		probably benign	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nat9	G	A	11: 115,074,269 (GRCm39)	T133M	probably damaging	Het
Nectin4	T	C	1: 171,212,714 (GRCm39)	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,163,533 (GRCm39)	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,084,265 (GRCm39)	M438K	probably benign	Het
Or2y14	T	A	11: 49,405,216 (GRCm39)	Y250*	probably null	Het
Or52p2	A	T	7: 102,237,043 (GRCm39)	D302E	probably benign	Het
Or5b21	A	T	19: 12,839,261 (GRCm39)	I41F	probably benign	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pde6c	G	A	19: 38,169,341 (GRCm39)	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,735,067 (GRCm39)	W216R	probably damaging	Het
Rhof	T	A	5: 123,258,454 (GRCm39)	T126S	probably benign	Het
Riox2	A	G	16: 59,296,045 (GRCm39)	I49V	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rusf1	A	G	7: 127,873,852 (GRCm39)	V345A	probably benign	Het
Shld2	A	G	14: 33,989,790 (GRCm39)	V372A	probably benign	Het
Spata31e2	A	T	1: 26,723,521 (GRCm39)	V553D	possibly damaging	Het
Tmc6	A	T	11: 117,659,774 (GRCm39)	C750S	probably benign	Het
Tmem231	C	A	8: 112,660,418 (GRCm39)		probably benign	Het
Tmem94	T	A	11: 115,677,121 (GRCm39)	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,539,163 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,123 (GRCm39)	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,570,342 (GRCm39)	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,914,576 (GRCm39)	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,761,605 (GRCm39)	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Vnn1	T	A	10: 23,773,250 (GRCm39)	D92E	probably benign	Het
Zan	T	C	5: 137,444,974 (GRCm39)	I1762V	unknown	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,310,563 (GRCm39)		probably null	Het
Zfp560	T	C	9: 20,263,214 (GRCm39)	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,745,789 (GRCm39)	V188G	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
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'- TGGGAGCCAGGTTTTCTCAG -3'

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

Posted On

2015-10-21