Incidental Mutation 'IGL01547:Bag1'
ID90356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag1
Ensembl Gene ENSMUSG00000028416
Gene NameBCL2-associated athanogene 1
SynonymsRap46
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01547
Quality Score
Status
Chromosome4
Chromosomal Location40936398-40948294 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40936661 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 332 (C332R)
Ref Sequence ENSEMBL: ENSMUSP00000149606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030125] [ENSMUST00000108089] [ENSMUST00000191273] [ENSMUST00000215842]
Predicted Effect probably damaging
Transcript: ENSMUST00000030125
AA Change: C332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: C332R

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: C196R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416
AA Change: C196R

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: C196R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416
AA Change: C196R

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: C332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,455,262 G243R possibly damaging Het
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bcas2 T C 3: 103,171,999 Y49H probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Mtfr2 C T 10: 20,357,599 P305S probably damaging Het
Olfr301 A G 7: 86,412,871 N170D possibly damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Tgm5 A G 2: 121,049,202 probably benign Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in Bag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Bag1 APN 4 40936657 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
Posted On2013-12-03