Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Bag4'

722061

Institutional Source

Beutler Lab

Gene Symbol

Bag4

Ensembl Gene

ENSMUSG00000037316

Gene Name

BCL2-associated athanogene 4

Synonyms

2410112I15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R9572 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26254566-26275237 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 26258303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 341 (Y341*)

Ref Sequence

ENSEMBL: ENSMUSP00000044725 (fasta)

Gene Model

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

AlphaFold

Q8CI61

Predicted Effect

probably null
Transcript: ENSMUST00000038498
AA Change: Y341*

SMART Domains

Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: Y341*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,748,477 (GRCm39)	S1083P	probably damaging	Het
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Iws1	T	A	18: 32,203,257 (GRCm39)	S44R	probably damaging	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Sdk1	G	A	5: 141,595,784 (GRCm39)	G147R	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vcpip1	T	C	1: 9,816,770 (GRCm39)	N538D	possibly damaging	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	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
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
R9781:Bag4	UTSW	8	26,259,564 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAATACGCTTTGTCTGTC -3'
(R):5'- TGTTGATAGCTTCCCACTAAGACAG -3'

Sequencing Primer
(F):5'- CCTACAAACTCTTCTACTTCTTGC -3'
(R):5'- ATAGCTTCCCACTAAGACAGCTTCTG -3'

Posted On

2022-08-09