Incidental Mutation 'IGL02657:Bag1'
ID 302362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag1
Ensembl Gene ENSMUSG00000028416
Gene Name BCL2-associated athanogene 1
Synonyms Rap46
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 4
Chromosomal Location 40936398-40948294 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40936643 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 338 (Y338N)
Ref Sequence ENSEMBL: ENSMUSP00000149606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030125] [ENSMUST00000108089] [ENSMUST00000191273] [ENSMUST00000215842]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030125
AA Change: Y338N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: Y338N

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: ENSMUST00000108089
AA Change: Y202N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416
AA Change: Y202N

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
AA Change: Y202N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416
AA Change: Y202N

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: Y338N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably damaging Het
Other mutations in Bag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Bag1 APN 4 40936661 missense probably damaging 1.00
IGL01810:Bag1 APN 4 40936657 missense probably damaging 1.00
IGL02174:Bag1 APN 4 40941555 missense possibly damaging 0.50
R0446:Bag1 UTSW 4 40936609 missense probably benign 0.07
R0975:Bag1 UTSW 4 40937152 missense probably benign 0.26
R5256:Bag1 UTSW 4 40948022 missense probably damaging 1.00
R5350:Bag1 UTSW 4 40948007 missense possibly damaging 0.94
R5740:Bag1 UTSW 4 40941526 missense probably null 0.98
R7580:Bag1 UTSW 4 40947836 missense probably benign 0.03
R9452:Bag1 UTSW 4 40947733 missense probably benign 0.00
Posted On 2015-04-16