Incidental Mutation 'IGL01810:Bag1'
ID 155787
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 # IGL01810
Quality Score
Status
Chromosome 4
Chromosomal Location 40936398-40948294 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40936657 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 333 (D333G)
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 damaging
Transcript: ENSMUST00000030125
AA Change: D333G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: D333G

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 damaging
Transcript: ENSMUST00000108089
AA Change: D197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416
AA Change: D197G

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 damaging
Transcript: ENSMUST00000191273
AA Change: D197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416
AA Change: D197G

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 damaging
Transcript: ENSMUST00000215842
AA Change: D333G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,417,359 Y10* probably null Het
Aass C A 6: 23,107,634 Q383H probably damaging Het
Cap2 A G 13: 46,639,949 probably benign Het
Col27a1 G T 4: 63,225,631 A519S probably benign Het
Cr2 A G 1: 195,159,595 V726A possibly damaging Het
Csmd2 A G 4: 128,480,845 probably benign Het
Dennd4c A G 4: 86,799,551 D595G possibly damaging Het
Ercc2 G T 7: 19,393,449 R340L probably damaging Het
Espl1 A G 15: 102,298,205 T35A probably benign Het
Fndc3a A G 14: 72,566,141 Y525H probably benign Het
Gm4922 T C 10: 18,784,047 Q309R probably benign Het
Gm5263 T C 1: 146,420,554 noncoding transcript Het
Gm6563 A C 19: 23,676,387 R180S probably damaging Het
Gpr182 C A 10: 127,750,864 V73F probably damaging Het
Gramd1b C T 9: 40,315,773 R179H probably damaging Het
Hk1 C T 10: 62,353,105 A10T probably benign Het
Hmgn3 C A 9: 83,110,384 probably benign Het
Il1b C T 2: 129,369,729 E24K probably damaging Het
Itgb6 G T 2: 60,627,985 Q475K probably benign Het
Lrrc74b A G 16: 17,545,558 S368P probably benign Het
Mfsd2b T C 12: 4,866,469 T234A possibly damaging Het
Muc6 A T 7: 141,651,062 Y270N probably damaging Het
Naip6 A G 13: 100,288,095 probably benign Het
Olfr142 A T 2: 90,252,132 Y285* probably null Het
Pear1 G A 3: 87,752,301 T742I probably damaging Het
Peli2 G A 14: 48,256,034 V238I probably benign Het
Pira2 A G 7: 3,844,612 L26P probably damaging Het
Pot1b A G 17: 55,662,521 V549A possibly damaging Het
Prdm16 T C 4: 154,347,927 Y295C probably benign Het
Ptprd A T 4: 76,140,507 probably benign Het
Rap1gap A T 4: 137,716,155 M145L probably benign Het
Setd7 A T 3: 51,532,967 probably benign Het
Ssx2ip T C 3: 146,428,010 I258T probably benign Het
Stard9 T C 2: 120,699,084 Y1941H possibly damaging Het
Stxbp3 T C 3: 108,800,152 E420G probably benign Het
Tpra1 T C 6: 88,909,342 V101A probably damaging Het
Tpx2 G T 2: 152,884,235 Q373H probably damaging Het
Ttn C T 2: 76,727,008 R29914Q probably damaging Het
Ubr3 T C 2: 70,003,465 probably null Het
Usp18 G A 6: 121,253,771 G53D probably damaging Het
Vps13c A T 9: 67,955,780 H3026L probably benign Het
Zan T C 5: 137,463,626 E1097G unknown Het
Other mutations in Bag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Bag1 APN 4 40936661 missense probably damaging 1.00
IGL02174:Bag1 APN 4 40941555 missense possibly damaging 0.50
IGL02657:Bag1 APN 4 40936643 missense probably benign 0.00
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 2014-02-04