Incidental Mutation 'R8066:Bag6'
ID 620034
Institutional Source Beutler Lab
Gene Symbol Bag6
Ensembl Gene ENSMUSG00000024392
Gene Name BCL2-associated athanogene 6
Synonyms 2410045D21Rik, G3, D17H6S52E, Bat3, Scythe
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8066 (G1)
Quality Score 211.009
Status Not validated
Chromosome 17
Chromosomal Location 35354154-35366298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35361283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 446 (D446G)
Ref Sequence ENSEMBL: ENSMUSP00000129324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173491] [ENSMUST00000173535] [ENSMUST00000173550] [ENSMUST00000173952] [ENSMUST00000174281] [ENSMUST00000174478]
AlphaFold Q9Z1R2
Predicted Effect probably damaging
Transcript: ENSMUST00000025250
AA Change: D464G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: D464G

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: D446G
SMART Domains Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: D446G

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: D441G
SMART Domains Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: D441G

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 probably benign
Transcript: ENSMUST00000172993
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
Predicted Effect probably damaging
Transcript: ENSMUST00000173535
AA Change: D505G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: D505G

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 damaging
Transcript: ENSMUST00000173550
AA Change: D446G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: D446G

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 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 damaging
Transcript: ENSMUST00000174281
AA Change: D464G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: D464G

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: ENSMUST00000174478
SMART Domains Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,780,689 (GRCm39) V177A probably benign Het
Acsm2 C A 7: 119,190,548 (GRCm39) T517K probably damaging Het
Adam29 T G 8: 56,325,703 (GRCm39) L250F probably benign Het
Ankrd37 T C 8: 46,450,726 (GRCm39) D135G probably benign Het
Armh4 T C 14: 50,005,980 (GRCm39) T572A possibly damaging Het
Aspa T C 11: 73,204,372 (GRCm39) K199E possibly damaging Het
Aurka A T 2: 172,212,338 (GRCm39) I13K probably benign Het
Bcar3 A T 3: 122,318,573 (GRCm39) I654F probably damaging Het
Ccdc188 A T 16: 18,037,058 (GRCm39) N210Y probably damaging Het
Ccdc25 A T 14: 66,083,751 (GRCm39) D28V possibly damaging Het
Ccn5 G T 2: 163,670,862 (GRCm39) C123F probably damaging Het
Cdc37 C T 9: 21,054,437 (GRCm39) E63K probably benign Het
Chrm4 T A 2: 91,758,042 (GRCm39) L150H probably damaging Het
Col5a2 A T 1: 45,452,628 (GRCm39) probably null Het
Ctr9 T A 7: 110,633,104 (GRCm39) Y117* probably null Het
Cyp4f37 C A 17: 32,854,047 (GRCm39) R499S probably benign Het
Egr4 T C 6: 85,489,277 (GRCm39) Y261C probably damaging Het
Fanca A T 8: 124,030,679 (GRCm39) C468S unknown Het
Gart T C 16: 91,436,335 (GRCm39) N141D probably benign Het
Get4 G A 5: 139,249,293 (GRCm39) V126M probably damaging Het
Gja3 T C 14: 57,273,263 (GRCm39) S370G probably benign Het
Gopc T C 10: 52,230,812 (GRCm39) K162R probably benign Het
Grpel1 A G 5: 36,626,889 (GRCm39) D57G probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kcnma1 A G 14: 23,361,744 (GRCm39) L1149P probably benign Het
Lmbrd2 G A 15: 9,172,172 (GRCm39) R322Q probably benign Het
Lrrc59 T C 11: 94,525,426 (GRCm39) L74P possibly damaging Het
Mcam G T 9: 44,052,257 (GRCm39) K589N probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,342,562 (GRCm39) L813Q possibly damaging Het
Oga T C 19: 45,760,291 (GRCm39) K289R probably damaging Het
Or10h1 T C 17: 33,418,126 (GRCm39) F35L probably benign Het
Or14a260 A T 7: 85,985,014 (GRCm39) C197S probably benign Het
Or52b1 C T 7: 104,978,761 (GRCm39) V213I possibly damaging Het
Pcdhga8 A T 18: 37,859,435 (GRCm39) I164L probably benign Het
Pck2 C A 14: 55,781,858 (GRCm39) P251H probably benign Het
Phip A T 9: 82,757,351 (GRCm39) I1607K probably benign Het
Piwil2 T C 14: 70,658,168 (GRCm39) T220A probably benign Het
Plch1 G A 3: 63,618,478 (GRCm39) Q686* probably null Het
Pnpla2 A G 7: 141,039,581 (GRCm39) *487W probably null Het
Prdm14 C A 1: 13,184,540 (GRCm39) G544C probably benign Het
Psg22 A G 7: 18,452,218 (GRCm39) E45G possibly damaging Het
Psmb5 T C 14: 54,851,698 (GRCm39) D249G probably benign Het
Pstpip1 A G 9: 56,033,913 (GRCm39) I296V probably benign Het
S1pr3 T A 13: 51,573,955 (GRCm39) *379R probably null Het
Smc3 G A 19: 53,603,576 (GRCm39) R57H probably damaging Het
Spata31g1 C A 4: 42,971,929 (GRCm39) Q421K possibly damaging Het
Srcap T A 7: 127,139,484 (GRCm39) H1268Q possibly damaging Het
Srcap C T 7: 127,120,804 (GRCm39) R155C probably damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Svep1 A G 4: 58,113,650 (GRCm39) V999A probably benign Het
Tchp T A 5: 114,847,472 (GRCm39) L97Q probably benign Het
Tex46 G A 4: 136,340,265 (GRCm39) V117M probably benign Het
Tnnc2 T A 2: 164,619,661 (GRCm39) I102F possibly damaging Het
Trbv5 T A 6: 41,039,326 (GRCm39) C12S probably damaging Het
Trub2 T A 2: 29,667,867 (GRCm39) T258S possibly damaging Het
Uba3 T A 6: 97,178,882 (GRCm39) N87I probably damaging Het
Vmn1r160 A T 7: 22,571,315 (GRCm39) I223F probably damaging Het
Vmn1r192 G T 13: 22,371,565 (GRCm39) Y218* probably null Het
Vmn1r8 A G 6: 57,013,419 (GRCm39) M157V probably benign Het
Vps53 T C 11: 76,027,133 (GRCm39) E127G probably damaging Het
Vsig10 G T 5: 117,489,849 (GRCm39) E538D probably benign Het
Zfp647 A T 15: 76,796,095 (GRCm39) H188Q probably damaging 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
R1450:Bag6 UTSW 17 35,360,934 (GRCm39) missense probably benign 0.01
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
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'- TTAGGACAGTTACTGGCAGAAG -3'
(R):5'- GGTCTGATGTAACCTTGAACCTG -3'

Sequencing Primer
(F):5'- CAGTTACTGGCAGAAGAGAGC -3'
(R):5'- TGATGTAACCTTGAACCTGGACCC -3'
Posted On 2020-01-23