Incidental Mutation 'R3407:Bag3'
ID 258316
Institutional Source Beutler Lab
Gene Symbol Bag3
Ensembl Gene ENSMUSG00000030847
Gene Name BCL2-associated athanogene 3
Synonyms Bcl-2-interacting death suppressor, Bis
MMRRC Submission 040625-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3407 (G1)
Quality Score 217
Status Not validated
Chromosome 7
Chromosomal Location 128125340-128148705 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TAAAG to TAAAGAAAG at 128147492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033136]
AlphaFold Q9JLV1
PDB Structure Solution structure of the Murine BAG domain of Bcl2-associated athanogene 3 [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000033136
SMART Domains Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847

DomainStartEndE-ValueType
WW 23 56 1.49e-11 SMART
internal_repeat_1 90 151 3.37e-5 PROSPERO
low complexity region 158 171 N/A INTRINSIC
low complexity region 176 204 N/A INTRINSIC
internal_repeat_1 206 283 3.37e-5 PROSPERO
low complexity region 372 392 N/A INTRINSIC
low complexity region 396 419 N/A INTRINSIC
BAG 426 503 9.22e-27 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomyocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg4 A T X: 56,013,487 (GRCm39) I2838F probably damaging Het
Agbl2 G A 2: 90,621,962 (GRCm39) V150I probably damaging Het
Ambra1 T C 2: 91,740,652 (GRCm39) S924P probably damaging Het
Arfgap3 T C 15: 83,206,808 (GRCm39) D260G probably benign Het
Cacnb3 T C 15: 98,539,068 (GRCm39) V167A probably benign Het
Carm1 C T 9: 21,497,478 (GRCm39) R347W probably damaging Het
Ccdc30 A T 4: 119,181,778 (GRCm39) F577I possibly damaging Het
Ces3a T A 8: 105,777,199 (GRCm39) V174E probably damaging Het
Cobl T C 11: 12,325,830 (GRCm39) Y215C probably damaging Het
Cybrd1 A T 2: 70,948,470 (GRCm39) M3L probably damaging Het
Dis3 A G 14: 99,336,212 (GRCm39) V98A probably benign Het
Dsg1c G A 18: 20,415,115 (GRCm39) probably null Het
Eif4a1 A T 11: 69,561,089 (GRCm39) V72E probably damaging Het
Fmn1 A T 2: 113,195,400 (GRCm39) I367F unknown Het
Fnbp1l A C 3: 122,345,799 (GRCm39) W229G probably damaging Het
Inka1 C T 9: 107,862,253 (GRCm39) R23Q probably damaging Het
Ints6 A T 14: 62,934,386 (GRCm39) I707K probably benign Het
Ipo8 T C 6: 148,723,207 (GRCm39) D70G probably benign Het
Kif20b T C 19: 34,927,900 (GRCm39) L1014P probably damaging Het
Kif9 T C 9: 110,348,208 (GRCm39) L677P probably damaging Het
Mbd1 A G 18: 74,410,438 (GRCm39) K414E possibly damaging Het
Mfsd1 T A 3: 67,504,046 (GRCm39) M346K possibly damaging Het
Mthfr T C 4: 148,139,518 (GRCm39) I66T probably damaging Het
Myh10 T G 11: 68,681,037 (GRCm39) L989R possibly damaging Het
Ncan G A 8: 70,564,801 (GRCm39) T271I probably damaging Het
Or10ag53 A C 2: 87,083,243 (GRCm39) T321P probably benign Het
Or9s23 A G 1: 92,501,675 (GRCm39) T261A probably damaging Het
Pate2 C T 9: 35,582,262 (GRCm39) T80I probably damaging Het
Pcdhb15 A G 18: 37,607,442 (GRCm39) T225A possibly damaging Het
Pde4dip C A 3: 97,661,784 (GRCm39) L640F probably damaging Het
Plch1 A G 3: 63,606,768 (GRCm39) probably benign Het
Pus3 C T 9: 35,478,021 (GRCm39) R418C probably damaging Het
Sall2 G T 14: 52,565,561 (GRCm39) N24K probably benign Het
Sh3bp4 G T 1: 89,072,769 (GRCm39) C539F possibly damaging Het
Smco3 A G 6: 136,808,425 (GRCm39) S150P probably benign Het
Spag17 G T 3: 99,992,615 (GRCm39) A1704S probably benign Het
Tecta A T 9: 42,249,150 (GRCm39) I1904N probably damaging Het
Ttn T A 2: 76,536,281 (GRCm39) K33280* probably null Het
Uggt2 T C 14: 119,328,682 (GRCm39) D90G probably benign Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Zbtb10 A G 3: 9,329,926 (GRCm39) N428S probably damaging Het
Zfp407 G A 18: 84,576,997 (GRCm39) A1372V probably benign Het
Other mutations in Bag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Bag3 APN 7 128,148,065 (GRCm39) missense probably benign 0.03
IGL01942:Bag3 APN 7 128,148,024 (GRCm39) missense probably benign 0.00
PIT4377001:Bag3 UTSW 7 128,147,441 (GRCm39) missense probably damaging 1.00
R0577:Bag3 UTSW 7 128,125,611 (GRCm39) missense probably benign 0.00
R1730:Bag3 UTSW 7 128,125,583 (GRCm39) start codon destroyed possibly damaging 0.89
R1991:Bag3 UTSW 7 128,147,407 (GRCm39) missense probably benign
R2065:Bag3 UTSW 7 128,147,498 (GRCm39) missense probably damaging 0.96
R2198:Bag3 UTSW 7 128,147,493 (GRCm39) frame shift probably null
R2201:Bag3 UTSW 7 128,147,493 (GRCm39) frame shift probably null
R3407:Bag3 UTSW 7 128,147,493 (GRCm39) frame shift probably null
R3408:Bag3 UTSW 7 128,147,493 (GRCm39) frame shift probably null
R3765:Bag3 UTSW 7 128,141,995 (GRCm39) missense probably benign 0.30
R4201:Bag3 UTSW 7 128,147,881 (GRCm39) missense probably damaging 1.00
R4430:Bag3 UTSW 7 128,125,647 (GRCm39) missense probably damaging 0.99
R5642:Bag3 UTSW 7 128,147,830 (GRCm39) missense probably damaging 1.00
R6112:Bag3 UTSW 7 128,143,556 (GRCm39) missense probably damaging 0.99
R6298:Bag3 UTSW 7 128,141,922 (GRCm39) missense probably damaging 0.99
R8145:Bag3 UTSW 7 128,147,612 (GRCm39) missense possibly damaging 0.71
R9216:Bag3 UTSW 7 128,143,923 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTCGCCTGCTATTAACCACG -3'
(R):5'- AGCACACCTGGATGCTTAG -3'

Sequencing Primer
(F):5'- CGCCTGCTATTAACCACGAATTATTG -3'
(R):5'- CACCTGGATGCTTAGGGGGTG -3'
Posted On 2015-01-23