Incidental Mutation 'IGL02054:Bag4'
ID185170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene NameBCL2-associated athanogene 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.351) question?
Stock #IGL02054
Quality Score
Status
Chromosome8
Chromosomal Location25764538-25785287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25771225 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 163 (S163G)
Ref Sequence ENSEMBL: ENSMUSP00000044725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038498]
Predicted Effect probably benign
Transcript: ENSMUST00000038498
AA Change: S163G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: S163G

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: ENSMUST00000209948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210103
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,292,123 P1036Q probably damaging Het
Camkk1 G A 11: 73,025,882 R102Q probably damaging Het
Caprin1 A C 2: 103,771,798 probably null Het
Cct8 A T 16: 87,490,476 probably benign Het
Dlgap2 A G 8: 14,843,552 M941V probably damaging Het
Dock7 C T 4: 98,973,409 R1327Q probably damaging Het
Fam160a2 A G 7: 105,384,423 S529P probably damaging Het
Gbp9 T C 5: 105,082,807 D417G probably benign Het
Gemin2 G A 12: 59,021,737 probably null Het
Grk6 G T 13: 55,454,397 A346S probably benign Het
Gtf2h1 A G 7: 46,815,425 probably benign Het
Irak3 T A 10: 120,176,259 Q200L probably benign Het
Irx4 A G 13: 73,268,828 T448A probably damaging Het
Iws1 T C 18: 32,090,542 probably null Het
Kcnk18 G A 19: 59,235,613 probably benign Het
Klk1b11 C A 7: 43,998,827 S86Y possibly damaging Het
Lgals7 T C 7: 28,866,189 F136S probably damaging Het
Luc7l T A 17: 26,279,340 probably benign Het
Mta2 T A 19: 8,950,912 V525E probably benign Het
Mtnr1b G T 9: 15,874,240 A74E possibly damaging Het
Myo1c A G 11: 75,661,136 T354A probably benign Het
Nat1 T C 8: 67,491,422 F153S probably damaging Het
Oasl2 T C 5: 114,897,806 C48R probably damaging Het
Olfr1313 T G 2: 112,071,924 I220L probably benign Het
Pkm C A 9: 59,678,201 R489S probably damaging Het
Pth2r T A 1: 65,336,781 I66N probably damaging Het
Slc25a18 T C 6: 120,792,397 probably null Het
Tnip3 T C 6: 65,590,611 S2P possibly damaging Het
Vmn2r61 T C 7: 42,276,734 probably null Het
Other mutations in Bag4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6084:Bag4 UTSW 8 25771231 missense probably benign 0.00
R6595:Bag4 UTSW 8 25769500 missense probably damaging 1.00
R6596:Bag4 UTSW 8 25769500 missense probably damaging 1.00
Posted On2014-05-07