Incidental Mutation 'R0414:Bag4'
ID 40169
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
Synonyms 2410112I15Rik
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26254566-26275237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26258025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 434 (V434A)
Ref Sequence ENSEMBL: ENSMUSP00000044725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038498]
AlphaFold Q8CI61
Predicted Effect possibly damaging
Transcript: ENSMUST00000038498
AA Change: V434A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: V434A

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 0.4638 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign 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
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
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'- GCTTCTTGTCACAACAGGCGTTTC -3'
(R):5'- GCAGCGTCCATCAGTATGAATCTCC -3'

Sequencing Primer
(F):5'- TGTCACAACAGGCGTTTCAAAAG -3'
(R):5'- CTCAAGTCCAGTATAGTGCTGAGC -3'
Posted On 2013-05-23