Incidental Mutation 'R4428:Bag4'
ID 328278
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
Synonyms 2410112I15Rik
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 8
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210103
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Bag4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TACCTTAGGCTGCTGAGGTG -3'
(R):5'- AACTCTGTTCTTTATTTTGGGAGCC -3'

Sequencing Primer
(F):5'- CTGCTGAGGTGGGGGTGAAG -3'
(R):5'- CAGGTTTTCTCAGGTGTGGAGAAC -3'
Posted On 2015-07-07