Incidental Mutation 'R7580:Bag1'
ID 586676
Institutional Source Beutler Lab
Gene Symbol Bag1
Ensembl Gene ENSMUSG00000028416
Gene Name BCL2-associated athanogene 1
Synonyms Rap46
MMRRC Submission 045664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7580 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 40936398-40948294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40947836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 123 (E123K)
Ref Sequence ENSEMBL: ENSMUSP00000030125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030125] [ENSMUST00000030128] [ENSMUST00000108089] [ENSMUST00000191273] [ENSMUST00000215842]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030125
AA Change: E123K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: E123K

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
low complexity region 69 79 N/A INTRINSIC
low complexity region 117 134 N/A INTRINSIC
low complexity region 140 151 N/A INTRINSIC
UBQ 154 230 9.52e-11 SMART
low complexity region 235 248 N/A INTRINSIC
BAG 256 336 1.92e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030128
SMART Domains Protein: ENSMUSP00000030128
Gene: ENSMUSG00000028419

DomainStartEndE-ValueType
Pfam:Snf7 12 197 5.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108089
SMART Domains Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
UBQ 18 94 9.52e-11 SMART
low complexity region 99 112 N/A INTRINSIC
BAG 120 200 1.92e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191273
SMART Domains Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
UBQ 18 94 9.52e-11 SMART
low complexity region 99 112 N/A INTRINSIC
BAG 120 200 1.92e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215842
AA Change: E123K

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: The oncogene Bcl2 encodes a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to Bcl2 protein and is referred to as Bcl2-associated athanogene. It enhances the anti-apoptotic effects of Bcl2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least two protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) start site and an alternative, downstream, AUG translation initiation site. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality and liver hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 60,993,040 (GRCm39) Y213F probably damaging Het
Adamdec1 A G 14: 68,802,980 (GRCm39) S462P probably benign Het
Adamtsl1 T A 4: 85,972,301 (GRCm39) C3S possibly damaging Het
Brip1 A G 11: 86,048,427 (GRCm39) L305P probably damaging Het
Cage1 T A 13: 38,206,700 (GRCm39) I382F possibly damaging Het
Cfap52 T A 11: 67,837,146 (GRCm39) K205I probably damaging Het
Cmtr2 T A 8: 110,948,309 (GRCm39) N206K probably damaging Het
Defb34 G A 8: 19,176,426 (GRCm39) C39Y possibly damaging Het
Dennd3 T C 15: 73,428,296 (GRCm39) S881P possibly damaging Het
Dglucy C T 12: 100,816,423 (GRCm39) A325V probably benign Het
Dnah8 A G 17: 30,994,077 (GRCm39) E3398G probably damaging Het
Dsc2 A T 18: 20,183,130 (GRCm39) I96K probably damaging Het
Endov C T 11: 119,390,692 (GRCm39) probably benign Het
Fer1l6 A T 15: 58,430,245 (GRCm39) Q224L probably benign Het
Fmo2 T C 1: 162,704,613 (GRCm39) N431S possibly damaging Het
Gata3 A C 2: 9,867,943 (GRCm39) V337G probably damaging Het
Gtse1 G A 15: 85,746,432 (GRCm39) V83M probably damaging Het
Hgd C A 16: 37,439,241 (GRCm39) P224H possibly damaging Het
Kcnh6 T C 11: 105,908,374 (GRCm39) V330A probably damaging Het
Kiz C G 2: 146,798,169 (GRCm39) I631M probably damaging Het
Klhl18 T C 9: 110,265,118 (GRCm39) D366G probably benign Het
Lrmda C T 14: 22,069,925 (GRCm39) probably benign Het
Mc1r G T 8: 124,134,906 (GRCm39) A220S probably damaging Het
Megf6 T A 4: 154,355,201 (GRCm39) C1505* probably null Het
Mmp20 C T 9: 7,654,144 (GRCm39) R355* probably null Het
Mmp28 T A 11: 83,335,658 (GRCm39) Q280L probably damaging Het
Mppe1 C T 18: 67,370,488 (GRCm39) A70T probably damaging Het
Mtif3 T G 5: 146,895,757 (GRCm39) D110A possibly damaging Het
Mtss2 G A 8: 111,464,268 (GRCm39) R361H possibly damaging Het
Mvp T C 7: 126,591,483 (GRCm39) D542G probably damaging Het
Nlrp5 T C 7: 23,133,174 (GRCm39) C940R probably damaging Het
Nmur2 C T 11: 55,917,808 (GRCm39) V394I probably benign Het
Nwd2 A G 5: 63,965,624 (GRCm39) H1736R probably benign Het
Or2n1c T C 17: 38,519,934 (GRCm39) I266T probably benign Het
Pira13 A T 7: 3,827,611 (GRCm39) F182Y unknown Het
Purg A G 8: 33,906,661 (GRCm39) Y317C possibly damaging Het
Ralgapa1 T A 12: 55,765,013 (GRCm39) M880L probably benign Het
Rap1gap T C 4: 137,447,293 (GRCm39) F413L possibly damaging Het
Sart3 A T 5: 113,892,440 (GRCm39) probably null Het
Scaf4 G A 16: 90,026,740 (GRCm39) Q1026* probably null Het
Slc26a1 A G 5: 108,819,735 (GRCm39) L504P probably damaging Het
Slc35d1 C A 4: 103,065,330 (GRCm39) V184L Het
Slc5a11 C T 7: 122,864,421 (GRCm39) A339V probably damaging Het
Stab2 A T 10: 86,705,028 (GRCm39) M1780K probably benign Het
Tas1r2 G A 4: 139,387,056 (GRCm39) D172N probably benign Het
Tasor A G 14: 27,188,243 (GRCm39) I896M probably benign Het
Tasor2 G A 13: 3,624,752 (GRCm39) P1733S probably damaging Het
Thoc1 A T 18: 9,986,343 (GRCm39) K358N probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ttll8 A C 15: 88,818,132 (GRCm39) L181R probably damaging Het
Ubl4b G A 3: 107,461,784 (GRCm39) Q159* probably null Het
Xrn1 A G 9: 95,893,732 (GRCm39) H967R not run Het
Zeb2 T C 2: 44,884,544 (GRCm39) D1049G probably damaging Het
Other mutations in Bag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Bag1 APN 4 40,936,661 (GRCm39) missense probably damaging 1.00
IGL01810:Bag1 APN 4 40,936,657 (GRCm39) missense probably damaging 1.00
IGL02174:Bag1 APN 4 40,941,555 (GRCm39) missense possibly damaging 0.50
IGL02657:Bag1 APN 4 40,936,643 (GRCm39) missense probably benign 0.00
R0446:Bag1 UTSW 4 40,936,609 (GRCm39) missense probably benign 0.07
R0975:Bag1 UTSW 4 40,937,152 (GRCm39) missense probably benign 0.26
R5256:Bag1 UTSW 4 40,948,022 (GRCm39) missense probably damaging 1.00
R5350:Bag1 UTSW 4 40,948,007 (GRCm39) missense possibly damaging 0.94
R5740:Bag1 UTSW 4 40,941,526 (GRCm39) missense probably null 0.98
R9452:Bag1 UTSW 4 40,947,733 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACTACATGTGGCCAAACC -3'
(R):5'- ACTTCTGAAGGAGGGGCTTATG -3'

Sequencing Primer
(F):5'- TGGCCAAACCCACATATCC -3'
(R):5'- TGCGCTGTGAACAAACGC -3'
Posted On 2019-10-24