Incidental Mutation 'R4431:Bag4'
ID 328618
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
Synonyms 2410112I15Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4431 (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: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign 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
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S 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
R4428:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4429: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'- AATAGCACTCGGAAGGCCTC -3'
(R):5'- AGCCAGGTTTTCTCAGGTG -3'

Sequencing Primer
(F):5'- TCCTACCTTAGGCTGCTGAGG -3'
(R):5'- CTCAGGTGTGGAGAACTTTTGGTAAC -3'
Posted On 2015-07-21