Incidental Mutation 'IGL00913:Bag5'
ID 28715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag5
Ensembl Gene ENSMUSG00000049792
Gene Name BCL2-associated athanogene 5
Synonyms 4930405J06Rik, 1600025G07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL00913
Quality Score
Status
Chromosome 12
Chromosomal Location 111675922-111679690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111677766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 19 (E19G)
Ref Sequence ENSEMBL: ENSMUSP00000123839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040519] [ENSMUST00000054636] [ENSMUST00000159557] [ENSMUST00000160576] [ENSMUST00000160825] [ENSMUST00000162316] [ENSMUST00000162953] [ENSMUST00000163220]
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 damaging
Transcript: ENSMUST00000054636
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051049
Gene: ENSMUSG00000049792
AA Change: E19G

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 damaging
Transcript: ENSMUST00000160576
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125183
Gene: ENSMUSG00000049792
AA Change: E19G

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 damaging
Transcript: ENSMUST00000160825
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123839
Gene: ENSMUSG00000049792
AA Change: E19G

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 damaging
Transcript: ENSMUST00000162953
AA Change: E19G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000163220
SMART Domains Protein: ENSMUSP00000131169
Gene: ENSMUSG00000037787

DomainStartEndE-ValueType
Pfam:DUF2315 54 162 3.7e-46 PFAM
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. 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,977,793 (GRCm39) S517P possibly damaging Het
Arl4c T C 1: 88,629,106 (GRCm39) D94G probably damaging Het
Carf T A 1: 60,187,114 (GRCm39) D537E probably benign Het
Cd177 C A 7: 24,455,620 (GRCm39) D301Y probably damaging Het
Csmd1 C T 8: 16,121,301 (GRCm39) V1799I probably benign Het
Cyp4x1 T A 4: 114,970,060 (GRCm39) I356F probably benign Het
F5 A T 1: 164,032,465 (GRCm39) H1804L probably damaging Het
Fras1 G T 5: 96,842,935 (GRCm39) G1718C probably damaging Het
Ganc T C 2: 120,269,933 (GRCm39) probably benign Het
Hs3st5 A G 10: 36,708,846 (GRCm39) D127G probably damaging Het
Inpp5a A G 7: 139,096,637 (GRCm39) D154G probably benign Het
Kif16b T A 2: 142,545,927 (GRCm39) R1134* probably null Het
Lrrc66 C T 5: 73,765,499 (GRCm39) A515T possibly damaging Het
Map3k10 C T 7: 27,362,640 (GRCm39) probably benign Het
Mideas T A 12: 84,219,632 (GRCm39) I441L probably benign Het
Mrpl12 G A 11: 120,376,202 (GRCm39) D71N possibly damaging Het
Nfix A T 8: 85,453,106 (GRCm39) V316E probably damaging Het
Nop2 A G 6: 125,116,784 (GRCm39) Y346C probably damaging Het
Nrbp1 A G 5: 31,408,403 (GRCm39) E513G possibly damaging Het
Ogfrl1 T C 1: 23,409,171 (GRCm39) I352V probably benign Het
Or7a35 A G 10: 78,854,085 (GRCm39) T310A probably benign Het
Or8b48 T A 9: 38,492,672 (GRCm39) V33E probably damaging Het
Oxr1 G A 15: 41,683,539 (GRCm39) V15I possibly damaging Het
Pik3r6 T G 11: 68,442,147 (GRCm39) F697C probably damaging Het
Ptk2 A G 15: 73,167,238 (GRCm39) probably benign Het
Rnft2 G A 5: 118,339,280 (GRCm39) T380M probably damaging Het
Scel A G 14: 103,819,245 (GRCm39) N346S probably benign Het
Sema4a T A 3: 88,357,117 (GRCm39) T153S probably damaging Het
Serinc2 A T 4: 130,158,201 (GRCm39) L82Q possibly damaging Het
Sin3a A G 9: 57,005,402 (GRCm39) T392A probably benign Het
Slc25a38 T A 9: 119,949,373 (GRCm39) Y108* probably null Het
Tmc8 G A 11: 117,677,330 (GRCm39) G317R probably damaging Het
Trpc3 A G 3: 36,694,788 (GRCm39) V722A possibly damaging Het
Unc93a2 A T 17: 7,637,138 (GRCm39) V130D probably damaging Het
Other mutations in Bag5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2863:Bag5 UTSW 12 111,677,029 (GRCm39) missense probably benign 0.02
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
Posted On 2013-04-17