Incidental Mutation 'R2863:Bag5'
ID 253047
Institutional Source Beutler Lab
Gene Symbol Bag5
Ensembl Gene ENSMUSG00000049792
Gene Name BCL2-associated athanogene 5
Synonyms 4930405J06Rik, 1600025G07Rik
MMRRC Submission 040453-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R2863 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 111675922-111679690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111677029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 265 (T265A)
Ref Sequence ENSEMBL: ENSMUSP00000125183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040519] [ENSMUST00000054636] [ENSMUST00000159557] [ENSMUST00000160576] [ENSMUST00000160825] [ENSMUST00000162316] [ENSMUST00000163220] [ENSMUST00000162953]
AlphaFold Q8CI32
Predicted Effect probably benign
Transcript: ENSMUST00000040519
SMART Domains Protein: ENSMUSP00000038865
Gene: ENSMUSG00000037787

DomainStartEndE-ValueType
Pfam:DUF2315 54 182 5.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054636
AA Change: T265A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000051049
Gene: ENSMUSG00000049792
AA Change: T265A

DomainStartEndE-ValueType
BAG 9 86 6.38e-21 SMART
Blast:BAG 101 165 2e-13 BLAST
BAG 182 260 6.94e-22 SMART
BAG 275 350 2.65e-18 SMART
BAG 365 442 9.88e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159557
Predicted Effect probably benign
Transcript: ENSMUST00000160576
AA Change: T265A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125183
Gene: ENSMUSG00000049792
AA Change: T265A

DomainStartEndE-ValueType
BAG 9 86 6.38e-21 SMART
Blast:BAG 101 165 2e-13 BLAST
BAG 182 260 6.94e-22 SMART
BAG 275 350 2.65e-18 SMART
BAG 365 442 9.88e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160825
SMART Domains Protein: ENSMUSP00000123839
Gene: ENSMUSG00000049792

DomainStartEndE-ValueType
Pfam:BAG 12 60 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162316
SMART Domains Protein: ENSMUSP00000125711
Gene: ENSMUSG00000037787

DomainStartEndE-ValueType
Pfam:DUF2315 53 130 7.5e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163220
SMART Domains Protein: ENSMUSP00000131169
Gene: ENSMUSG00000037787

DomainStartEndE-ValueType
Pfam:DUF2315 54 162 3.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162953
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh3 A T 19: 45,874,396 (GRCm39) N592K probably damaging Het
Bmper A G 9: 23,395,237 (GRCm39) N656S probably benign Het
Boc A G 16: 44,313,323 (GRCm39) S514P probably benign Het
Ddx6 G T 9: 44,525,553 (GRCm39) L103F probably damaging Het
Epb41l3 C T 17: 69,517,316 (GRCm39) P115S probably benign Het
Exoc6 T C 19: 37,641,861 (GRCm39) F709S probably benign Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Fxr2 T A 11: 69,530,253 (GRCm39) I40N probably damaging Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ldb2 T C 5: 44,637,666 (GRCm39) Q214R probably damaging Het
Mus81 T G 19: 5,536,528 (GRCm39) Y146S probably damaging Het
Myh11 T C 16: 14,057,290 (GRCm39) I335V probably benign Het
Nid2 G A 14: 19,818,471 (GRCm39) E322K possibly damaging Het
Odad1 T C 7: 45,597,736 (GRCm39) S549P probably benign Het
Ofcc1 A T 13: 40,226,236 (GRCm39) S765R probably damaging Het
Ofcc1 T A 13: 40,241,414 (GRCm39) H698L possibly damaging Het
Or8b56 T A 9: 38,739,835 (GRCm39) F283I possibly damaging Het
Otog T G 7: 45,918,730 (GRCm39) C935W probably damaging Het
Pcdhga3 T C 18: 37,807,643 (GRCm39) V32A probably damaging Het
Phc3 C T 3: 30,968,277 (GRCm39) D920N probably damaging Het
Pou6f1 A G 15: 100,478,689 (GRCm39) probably null Het
Ppp4c A T 7: 126,391,272 (GRCm39) I20N probably damaging Het
Prkag2 T A 5: 25,226,790 (GRCm39) T156S probably benign Het
Psd T C 19: 46,303,201 (GRCm39) D95G probably damaging Het
Riox2 A G 16: 59,309,756 (GRCm39) D370G probably damaging Het
Spink14 T A 18: 44,163,948 (GRCm39) C39S probably damaging Het
Tdrd9 T C 12: 111,997,695 (GRCm39) V728A probably benign Het
Tgm2 T C 2: 157,985,019 (GRCm39) E29G probably benign Het
Wdr35 T A 12: 9,078,060 (GRCm39) Y1139* probably null Het
Wdr95 T A 5: 149,505,321 (GRCm39) C367* probably null Het
Zfp35 T A 18: 24,137,352 (GRCm39) D565E probably damaging Het
Other mutations in Bag5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Bag5 APN 12 111,677,766 (GRCm39) missense probably damaging 1.00
R5557:Bag5 UTSW 12 111,676,524 (GRCm39) missense probably benign 0.33
R7443:Bag5 UTSW 12 111,677,161 (GRCm39) missense probably damaging 0.99
R7501:Bag5 UTSW 12 111,676,722 (GRCm39) missense probably benign
R8793:Bag5 UTSW 12 111,677,355 (GRCm39) missense possibly damaging 0.86
R8819:Bag5 UTSW 12 111,677,709 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACTCACTTCATCCAGCTGTC -3'
(R):5'- TCATGTGCGAGGTGAACAAG -3'

Sequencing Primer
(F):5'- TCATCCAGCTGTCCGATCAAG -3'
(R):5'- GACGCTGATCGCACTTCTGATG -3'
Posted On 2014-12-04