Incidental Mutation 'R6596:Bag4'
ID 525975
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
Synonyms 2410112I15Rik
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26254566-26275237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26259528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 224 (D224N)
Ref Sequence ENSEMBL: ENSMUSP00000044725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038498]
AlphaFold Q8CI61
Predicted Effect probably damaging
Transcript: ENSMUST00000038498
AA Change: D224N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: D224N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null 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
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
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'- GAGCCAGGTTTTCTCAGGTG -3'

Sequencing Primer
(F):5'- AGGAGAACTGTTGCCTGGC -3'
(R):5'- CTCAGGTGTGGAGAACTTTTGGTAAC -3'
Posted On 2018-06-22