Incidental Mutation 'IGL00325:Bag3'
ID 5121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag3
Ensembl Gene ENSMUSG00000030847
Gene Name BCL2-associated athanogene 3
Synonyms Bcl-2-interacting death suppressor, Bis
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00325
Quality Score
Status
Chromosome 7
Chromosomal Location 128125340-128148705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128148065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 560 (T560K)
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 benign
Transcript: ENSMUST00000033136
AA Change: T560K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847
AA Change: T560K

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,773,517 (GRCm39) S431P possibly damaging Het
Arid1b C A 17: 5,387,385 (GRCm39) R1613S possibly damaging Het
Atxn2l T C 7: 126,097,460 (GRCm39) D196G possibly damaging Het
BC051076 A G 5: 88,112,354 (GRCm39) probably benign Het
Becn1 A T 11: 101,186,448 (GRCm39) M18K probably benign Het
C130050O18Rik G A 5: 139,400,493 (GRCm39) C182Y probably damaging Het
Cfap43 A G 19: 47,811,627 (GRCm39) probably benign Het
Cfap97 C T 8: 46,623,222 (GRCm39) S204L probably damaging Het
Gaa A G 11: 119,165,786 (GRCm39) T100A probably benign Het
Gab2 C T 7: 96,948,465 (GRCm39) P352S probably damaging Het
Gckr T A 5: 31,465,111 (GRCm39) I360N possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gulo G T 14: 66,243,398 (GRCm39) A40D probably damaging Het
Irs1 T C 1: 82,266,204 (GRCm39) I671V probably benign Het
Itgax T C 7: 127,747,481 (GRCm39) V1028A possibly damaging Het
Lamb3 T C 1: 193,002,755 (GRCm39) C67R probably damaging Het
Mpdz A T 4: 81,235,868 (GRCm39) V1237E probably damaging Het
Nat8 C T 6: 85,807,579 (GRCm39) V185M probably benign Het
Ninj2 A C 6: 120,175,023 (GRCm39) T65P probably benign Het
Nrg2 T C 18: 36,154,271 (GRCm39) M549V probably benign Het
Nwd2 A G 5: 63,962,818 (GRCm39) M801V probably benign Het
Pde8b T C 13: 95,170,875 (GRCm39) D589G probably damaging Het
Ppp1r35 T A 5: 137,777,799 (GRCm39) V155E probably damaging Het
Prss36 T A 7: 127,544,099 (GRCm39) probably benign Het
Raver2 A G 4: 100,960,065 (GRCm39) K182E probably damaging Het
Ring1 T G 17: 34,241,983 (GRCm39) E142A possibly damaging Het
Sidt2 T A 9: 45,853,534 (GRCm39) M689L possibly damaging Het
Slc45a4 A G 15: 73,459,504 (GRCm39) V95A probably damaging Het
Ssc5d T C 7: 4,947,480 (GRCm39) V1278A possibly damaging Het
Stk36 A T 1: 74,673,861 (GRCm39) K1251N possibly damaging Het
Utp14b T A 1: 78,642,262 (GRCm39) S53R probably damaging Het
Vmn2r17 A T 5: 109,575,858 (GRCm39) E243V probably benign Het
Other mutations in Bag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3407:Bag3 UTSW 7 128,147,492 (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
Posted On 2012-04-20