Incidental Mutation 'PIT4377001:Bag3'
ID 554925
Institutional Source Beutler Lab
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 # PIT4377001 (G1)
Quality Score 199.009
Status Not validated
Chromosome 7
Chromosomal Location 128125340-128148705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128147441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 352 (D352G)
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 damaging
Transcript: ENSMUST00000033136
AA Change: D352G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847
AA Change: D352G

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: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cib2 T G 9: 54,467,271 (GRCm39) E11A probably damaging Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Dclre1a C T 19: 56,532,837 (GRCm39) A586T probably benign Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gemin7 G A 7: 19,299,242 (GRCm39) R118* probably null Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
H4c12 C G 13: 21,934,654 (GRCm39) G8R unknown Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tert C T 13: 73,776,380 (GRCm39) T377I possibly damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCCTGCTATTAACCACGAATTATTG -3'
(R):5'- AGCACACCTGGATGCTTAGG -3'

Sequencing Primer
(F):5'- ACCACGAATTATTGCTTTAGACAG -3'
(R):5'- CCGATTTGGGGGCTGCAG -3'
Posted On 2019-06-07