Incidental Mutation 'R1450:Bag6'
ID 254669
Institutional Source Beutler Lab
Gene Symbol Bag6
Ensembl Gene ENSMUSG00000024392
Gene Name BCL2-associated athanogene 6
Synonyms 2410045D21Rik, G3, D17H6S52E, Bat3, Scythe
MMRRC Submission 039505-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1450 (G1)
Quality Score 79
Status Validated
Chromosome 17
Chromosomal Location 35354154-35366298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35360934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 422 (D422E)
Ref Sequence ENSEMBL: ENSMUSP00000025250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173535] [ENSMUST00000174281] [ENSMUST00000173550] [ENSMUST00000174478] [ENSMUST00000173952] [ENSMUST00000173491]
AlphaFold Q9Z1R2
Predicted Effect probably benign
Transcript: ENSMUST00000025250
AA Change: D422E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: D422E

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 220 239 N/A INTRINSIC
low complexity region 246 264 N/A INTRINSIC
Pfam:DUF3538 277 393 1.7e-44 PFAM
low complexity region 427 438 N/A INTRINSIC
low complexity region 557 625 N/A INTRINSIC
low complexity region 632 648 N/A INTRINSIC
low complexity region 673 721 N/A INTRINSIC
low complexity region 725 747 N/A INTRINSIC
low complexity region 765 780 N/A INTRINSIC
low complexity region 798 808 N/A INTRINSIC
low complexity region 1029 1042 N/A INTRINSIC
low complexity region 1088 1098 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000166426
AA Change: D404E
SMART Domains Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: D404E

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 171 188 N/A INTRINSIC
low complexity region 202 221 N/A INTRINSIC
low complexity region 228 246 N/A INTRINSIC
Pfam:DUF3538 259 375 3.7e-53 PFAM
low complexity region 409 420 N/A INTRINSIC
low complexity region 539 607 N/A INTRINSIC
low complexity region 614 630 N/A INTRINSIC
low complexity region 655 703 N/A INTRINSIC
low complexity region 707 729 N/A INTRINSIC
low complexity region 747 762 N/A INTRINSIC
low complexity region 780 790 N/A INTRINSIC
low complexity region 1011 1024 N/A INTRINSIC
low complexity region 1070 1080 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172571
AA Change: D399E
SMART Domains Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: D399E

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 171 188 N/A INTRINSIC
low complexity region 202 221 N/A INTRINSIC
low complexity region 228 252 N/A INTRINSIC
Pfam:DUF3538 254 370 3.5e-53 PFAM
low complexity region 404 415 N/A INTRINSIC
low complexity region 534 602 N/A INTRINSIC
low complexity region 609 625 N/A INTRINSIC
low complexity region 650 698 N/A INTRINSIC
low complexity region 702 724 N/A INTRINSIC
low complexity region 742 757 N/A INTRINSIC
low complexity region 775 785 N/A INTRINSIC
low complexity region 1006 1019 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172925
Predicted Effect probably benign
Transcript: ENSMUST00000172993
Predicted Effect probably benign
Transcript: ENSMUST00000173535
AA Change: D463E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: D463E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 20 29 N/A INTRINSIC
low complexity region 30 45 N/A INTRINSIC
UBQ 58 128 5.62e-22 SMART
low complexity region 137 153 N/A INTRINSIC
low complexity region 230 247 N/A INTRINSIC
low complexity region 261 280 N/A INTRINSIC
low complexity region 287 305 N/A INTRINSIC
Pfam:DUF3538 318 434 1.3e-53 PFAM
low complexity region 468 479 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174281
AA Change: D422E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: D422E

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 220 239 N/A INTRINSIC
low complexity region 246 264 N/A INTRINSIC
Pfam:DUF3538 277 393 3.6e-53 PFAM
low complexity region 427 438 N/A INTRINSIC
low complexity region 514 529 N/A INTRINSIC
low complexity region 592 660 N/A INTRINSIC
low complexity region 667 683 N/A INTRINSIC
low complexity region 708 756 N/A INTRINSIC
low complexity region 760 782 N/A INTRINSIC
low complexity region 800 815 N/A INTRINSIC
low complexity region 833 843 N/A INTRINSIC
low complexity region 1064 1077 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173550
AA Change: D404E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: D404E

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 171 188 N/A INTRINSIC
low complexity region 202 221 N/A INTRINSIC
low complexity region 228 246 N/A INTRINSIC
Pfam:DUF3538 259 375 3.7e-53 PFAM
low complexity region 409 420 N/A INTRINSIC
low complexity region 496 511 N/A INTRINSIC
low complexity region 574 642 N/A INTRINSIC
low complexity region 649 665 N/A INTRINSIC
low complexity region 690 738 N/A INTRINSIC
low complexity region 742 764 N/A INTRINSIC
low complexity region 782 797 N/A INTRINSIC
low complexity region 815 825 N/A INTRINSIC
low complexity region 1046 1059 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173351
Predicted Effect probably benign
Transcript: ENSMUST00000174478
SMART Domains Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173952
SMART Domains Protein: ENSMUSP00000134717
Gene: ENSMUSG00000024392

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 20 29 N/A INTRINSIC
low complexity region 30 45 N/A INTRINSIC
UBQ 58 128 5.62e-22 SMART
low complexity region 137 153 N/A INTRINSIC
low complexity region 212 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173491
SMART Domains Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in either embryonic lethality following abnormal brain development or neonatal death associated with severe developmental defects in the lung and kidney. These developmental defects are associated with widespread aberrant apoptosis and proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hfm1 A G 5: 107,066,324 (GRCm39) F35L probably damaging Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or51ac3 A G 7: 103,213,658 (GRCm39) V276A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pigc A G 1: 161,798,822 (GRCm39) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rgr A T 14: 36,766,641 (GRCm39) C94* probably null Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zdhhc5 A G 2: 84,532,733 (GRCm39) F57S probably damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Bag6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Bag6 APN 17 35,363,627 (GRCm39) missense probably damaging 1.00
IGL00489:Bag6 APN 17 35,363,627 (GRCm39) missense probably damaging 1.00
IGL01613:Bag6 APN 17 35,361,992 (GRCm39) unclassified probably benign
IGL01735:Bag6 APN 17 35,364,737 (GRCm39) unclassified probably benign
IGL02146:Bag6 APN 17 35,355,191 (GRCm39) missense probably damaging 1.00
IGL03092:Bag6 APN 17 35,364,603 (GRCm39) missense probably damaging 1.00
IGL03377:Bag6 APN 17 35,363,958 (GRCm39) missense probably damaging 1.00
Hobbit UTSW 17 35,364,898 (GRCm39) critical splice donor site probably null
Hunter UTSW 17 35,364,214 (GRCm39) splice site probably null
R0196:Bag6 UTSW 17 35,363,239 (GRCm39) missense probably damaging 1.00
R0449:Bag6 UTSW 17 35,360,442 (GRCm39) missense probably damaging 1.00
R1228:Bag6 UTSW 17 35,364,309 (GRCm39) missense probably damaging 0.99
R1686:Bag6 UTSW 17 35,363,928 (GRCm39) missense possibly damaging 0.84
R1869:Bag6 UTSW 17 35,361,802 (GRCm39) missense probably benign 0.05
R2034:Bag6 UTSW 17 35,363,668 (GRCm39) missense probably damaging 0.99
R2205:Bag6 UTSW 17 35,363,583 (GRCm39) missense probably damaging 1.00
R2428:Bag6 UTSW 17 35,366,151 (GRCm39) missense probably damaging 1.00
R2987:Bag6 UTSW 17 35,364,661 (GRCm39) nonsense probably null
R4691:Bag6 UTSW 17 35,358,224 (GRCm39) missense probably damaging 1.00
R4705:Bag6 UTSW 17 35,361,319 (GRCm39) missense probably damaging 1.00
R4905:Bag6 UTSW 17 35,364,162 (GRCm39) missense probably damaging 1.00
R5001:Bag6 UTSW 17 35,364,152 (GRCm39) missense probably damaging 1.00
R5168:Bag6 UTSW 17 35,363,671 (GRCm39) missense probably damaging 1.00
R5808:Bag6 UTSW 17 35,365,298 (GRCm39) missense probably damaging 1.00
R6118:Bag6 UTSW 17 35,362,600 (GRCm39) missense probably damaging 0.99
R6212:Bag6 UTSW 17 35,359,278 (GRCm39) missense probably benign 0.17
R6279:Bag6 UTSW 17 35,357,577 (GRCm39) missense probably damaging 1.00
R6300:Bag6 UTSW 17 35,357,577 (GRCm39) missense probably damaging 1.00
R6564:Bag6 UTSW 17 35,359,347 (GRCm39) missense probably damaging 0.98
R6783:Bag6 UTSW 17 35,363,211 (GRCm39) missense possibly damaging 0.94
R6927:Bag6 UTSW 17 35,364,898 (GRCm39) critical splice donor site probably null
R7226:Bag6 UTSW 17 35,361,921 (GRCm39) missense unknown
R7490:Bag6 UTSW 17 35,359,818 (GRCm39) missense unknown
R7499:Bag6 UTSW 17 35,363,368 (GRCm39) missense probably benign 0.29
R7688:Bag6 UTSW 17 35,365,868 (GRCm39) missense probably damaging 0.99
R8016:Bag6 UTSW 17 35,357,733 (GRCm39) missense unknown
R8066:Bag6 UTSW 17 35,361,283 (GRCm39) missense unknown
R8189:Bag6 UTSW 17 35,364,214 (GRCm39) splice site probably null
R8424:Bag6 UTSW 17 35,365,830 (GRCm39) missense probably damaging 1.00
R8542:Bag6 UTSW 17 35,363,334 (GRCm39) missense probably damaging 1.00
R8838:Bag6 UTSW 17 35,363,367 (GRCm39) missense probably damaging 1.00
R8850:Bag6 UTSW 17 35,361,041 (GRCm39) missense unknown
R9022:Bag6 UTSW 17 35,363,641 (GRCm39) missense probably damaging 1.00
R9028:Bag6 UTSW 17 35,363,130 (GRCm39) missense probably benign 0.01
R9128:Bag6 UTSW 17 35,363,688 (GRCm39) missense probably damaging 0.97
R9135:Bag6 UTSW 17 35,362,437 (GRCm39) missense unknown
R9186:Bag6 UTSW 17 35,363,667 (GRCm39) missense probably damaging 1.00
X0025:Bag6 UTSW 17 35,365,053 (GRCm39) nonsense probably null
Z1176:Bag6 UTSW 17 35,358,286 (GRCm39) critical splice donor site probably null
Z1177:Bag6 UTSW 17 35,361,900 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGACTCTCCTGGCACTCTGGATTAG -3'
(R):5'- TTGAGCCCTTCCCACATAGCACTG -3'

Sequencing Primer
(F):5'- GCACTCTGGATTAGGCTCTTG -3'
(R):5'- CCACATAGCACTGGCCTTC -3'
Posted On 2014-12-05