Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Bag4'

482391

Institutional Source

Beutler Lab

Gene Symbol

Bag4

Ensembl Gene

ENSMUSG00000037316

Gene Name

BCL2-associated athanogene 4

Synonyms

MMRRC Submission

044243-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25764538-25785287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25771231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 161 (T161A)

Ref Sequence

ENSEMBL: ENSMUSP00000044725 (fasta)

Gene Model

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

AlphaFold

Q8CI61

Predicted Effect

probably benign
Transcript: ENSMUST00000038498
AA Change: T161A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: T161A

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: ENSMUST00000209948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210103

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Bag4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Bag4	APN	8	25771225	missense	probably benign
IGL02074:Bag4	APN	8	25769355	missense	possibly damaging	0.87
IGL02129:Bag4	APN	8	25768085	missense	probably damaging	1.00
IGL02183:Bag4	APN	8	25768030	missense	probably damaging	1.00
IGL02441:Bag4	APN	8	25768108	missense	probably damaging	1.00
R0414:Bag4	UTSW	8	25767997	missense	possibly damaging	0.91
R1103:Bag4	UTSW	8	25767863	utr 3 prime	probably benign
R1423:Bag4	UTSW	8	25768274	missense	probably damaging	0.99
R1650:Bag4	UTSW	8	25777424	missense	probably damaging	0.99
R2045:Bag4	UTSW	8	25769488	missense	probably benign
R2333:Bag4	UTSW	8	25769488	missense	probably benign
R2945:Bag4	UTSW	8	25771252	missense	probably benign	0.08
R3124:Bag4	UTSW	8	25769488	missense	probably benign
R3125:Bag4	UTSW	8	25769488	missense	probably benign
R4428:Bag4	UTSW	8	25769488	missense	probably benign
R4429:Bag4	UTSW	8	25769488	missense	probably benign
R4431:Bag4	UTSW	8	25769488	missense	probably benign
R4467:Bag4	UTSW	8	25769488	missense	probably benign
R4482:Bag4	UTSW	8	25785044	unclassified	probably benign
R4538:Bag4	UTSW	8	25769488	missense	probably benign
R4539:Bag4	UTSW	8	25769488	missense	probably benign
R4541:Bag4	UTSW	8	25769488	missense	probably benign
R4542:Bag4	UTSW	8	25769488	missense	probably benign
R4663:Bag4	UTSW	8	25769488	missense	probably benign
R4708:Bag4	UTSW	8	25769488	missense	probably benign
R4710:Bag4	UTSW	8	25769488	missense	probably benign
R4732:Bag4	UTSW	8	25769488	missense	probably benign
R4733:Bag4	UTSW	8	25769488	missense	probably benign
R4970:Bag4	UTSW	8	25771244	nonsense	probably null
R5175:Bag4	UTSW	8	25768351	missense	probably damaging	0.99
R6032:Bag4	UTSW	8	25777493	missense	probably damaging	1.00
R6032:Bag4	UTSW	8	25777493	missense	probably damaging	1.00
R6595:Bag4	UTSW	8	25769500	missense	probably damaging	1.00
R6596:Bag4	UTSW	8	25769500	missense	probably damaging	1.00
R7564:Bag4	UTSW	8	25777479	nonsense	probably null
R7606:Bag4	UTSW	8	25769305	missense	probably damaging	0.99
R9225:Bag4	UTSW	8	25771242	missense	probably benign
R9323:Bag4	UTSW	8	25771333	missense	possibly damaging	0.74
R9323:Bag4	UTSW	8	25785152	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGGGAAACTGCTTACCTG -3'
(R):5'- TAGCTTATATGGTCATCGGTTACTGAC -3'

Posted On

2017-07-14