Incidental Mutation 'R4705:Bag6'
ID 355171
Institutional Source Beutler Lab
Gene Symbol Bag6
Ensembl Gene ENSMUSG00000024392
Gene Name BCL2-associated athanogene 6
Synonyms 2410045D21Rik, G3, D17H6S52E, Bat3, Scythe
MMRRC Submission 041953-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4705 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35354154-35366298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35361319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 476 (P476H)
Ref Sequence ENSEMBL: ENSMUSP00000134425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000174281] [ENSMUST00000173535] [ENSMUST00000173550] [ENSMUST00000173491] [ENSMUST00000174478] [ENSMUST00000173952]
AlphaFold Q9Z1R2
Predicted Effect probably damaging
Transcript: ENSMUST00000025250
AA Change: P476H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: P476H

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: P458H
SMART Domains Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: P458H

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: P453H
SMART Domains Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: P453H

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 noncoding transcript
Transcript: ENSMUST00000174613
Predicted Effect probably damaging
Transcript: ENSMUST00000174281
AA Change: P476H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: P476H

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 damaging
Transcript: ENSMUST00000173535
AA Change: P517H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: P517H

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: P458H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: P458H

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: ENSMUST00000173351
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 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
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 96% (113/118)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,369 (GRCm39) V230A possibly damaging Het
2010315B03Rik T C 9: 124,056,631 (GRCm39) T123A possibly damaging Het
Abca4 T C 3: 121,899,019 (GRCm39) V667A probably damaging Het
Abcb5 A G 12: 118,929,040 (GRCm39) S4P possibly damaging Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Ahnak C A 19: 8,994,270 (GRCm39) H5185N probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Aspscr1 A T 11: 120,579,771 (GRCm39) K39N possibly damaging Het
Atf7ip C T 6: 136,538,192 (GRCm39) P483L probably damaging Het
Atp11a C G 8: 12,863,118 (GRCm39) P99R probably damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bltp1 C T 3: 37,096,038 (GRCm39) T1108I probably benign Het
C2cd3 A G 7: 100,044,395 (GRCm39) K326E possibly damaging Het
Casp1 A G 9: 5,306,204 (GRCm39) D363G probably damaging Het
Ccdc33 G T 9: 58,024,840 (GRCm39) Q129K probably benign Het
Ccdc88a T C 11: 29,372,586 (GRCm39) I107T probably benign Het
Cela2a T C 4: 141,548,722 (GRCm39) N138S probably benign Het
Cfap61 A C 2: 145,877,122 (GRCm39) R460S probably damaging Het
Clstn2 T C 9: 97,345,612 (GRCm39) N579D possibly damaging Het
Col13a1 C A 10: 61,685,944 (GRCm39) G683W unknown Het
Col4a2 G A 8: 11,363,504 (GRCm39) R14Q possibly damaging Het
Cpa6 A G 1: 10,551,283 (GRCm39) S164P probably benign Het
Cpq A G 15: 33,497,484 (GRCm39) N408S probably benign Het
Ctnnal1 T C 4: 56,812,579 (GRCm39) T690A probably benign Het
Cx3cl1 A T 8: 95,506,835 (GRCm39) N280I probably benign Het
Cyp2b19 C T 7: 26,456,717 (GRCm39) R36C probably benign Het
Ddx51 T C 5: 110,803,174 (GRCm39) V269A probably damaging Het
Dipk2a T C 9: 94,402,688 (GRCm39) N325D possibly damaging Het
Dlst G T 12: 85,165,616 (GRCm39) probably null Het
Dmkn G C 7: 30,463,406 (GRCm39) A20P probably damaging Het
Dnhd1 T C 7: 105,304,948 (GRCm39) I330T probably damaging Het
Dock3 G A 9: 106,902,535 (GRCm39) H292Y probably damaging Het
Ell A G 8: 71,031,584 (GRCm39) D94G possibly damaging Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Fam3d T C 14: 8,349,347 (GRCm38) E201G probably benign Het
Fcgbp A G 7: 27,806,721 (GRCm39) K2230E probably benign Het
Frmd5 G T 2: 121,393,344 (GRCm39) probably benign Het
Gas2l1 G A 11: 5,010,867 (GRCm39) S654L possibly damaging Het
Gltpd2 G T 11: 70,410,966 (GRCm39) E86* probably null Het
Glyat T C 19: 12,628,661 (GRCm39) L152P possibly damaging Het
Gm17330 T C 12: 24,018,783 (GRCm39) T22A probably damaging Het
Gm9931 T A 1: 147,157,591 (GRCm39) noncoding transcript Het
Gpatch1 A T 7: 34,998,730 (GRCm39) probably null Het
Gpr4 T C 7: 18,956,819 (GRCm39) L247P probably damaging Het
Gtpbp3 G A 8: 71,943,758 (GRCm39) E214K probably benign Het
Hdac7 G T 15: 97,709,468 (GRCm39) Q21K probably damaging Het
Hivep3 A G 4: 119,729,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,716,631 (GRCm39) M300I possibly damaging Het
Ighv1-61 T C 12: 115,322,899 (GRCm39) Y71C probably damaging Het
Il36b T C 2: 24,044,630 (GRCm39) V10A probably benign Het
Inpp5f G T 7: 128,265,711 (GRCm39) S152I probably damaging Het
Jag1 C A 2: 136,938,229 (GRCm39) W257L probably damaging Het
Jak2 T A 19: 29,272,315 (GRCm39) N612K possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kbtbd6 A G 14: 79,690,046 (GRCm39) D247G probably benign Het
Kif15 A G 9: 122,789,058 (GRCm39) probably null Het
Kndc1 A G 7: 139,510,036 (GRCm39) T1293A possibly damaging Het
Lpar5 T C 6: 125,059,170 (GRCm39) I297T possibly damaging Het
Lpin2 T A 17: 71,539,138 (GRCm39) probably benign Het
Lypd10 T A 7: 24,412,934 (GRCm39) L114Q probably damaging Het
Mfsd4a A T 1: 131,981,309 (GRCm39) L230Q probably damaging Het
Mmp8 T C 9: 7,565,550 (GRCm39) V313A probably benign Het
Mrpl19 A T 6: 81,941,266 (GRCm39) D98E probably damaging Het
Mybl1 A G 1: 9,760,340 (GRCm39) I86T probably damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Necab1 T C 4: 15,052,628 (GRCm39) T117A probably damaging Het
Nol11 A G 11: 107,075,544 (GRCm39) probably benign Het
Nucb2 G A 7: 116,139,262 (GRCm39) probably null Het
Nup58 G T 14: 60,488,664 (GRCm39) P19T unknown Het
Odf2 T A 2: 29,794,046 (GRCm39) L301Q probably damaging Het
Oog4 T C 4: 143,165,445 (GRCm39) Y234C probably benign Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Papln T C 12: 83,823,982 (GRCm39) probably null Het
Paqr6 C T 3: 88,273,236 (GRCm39) A76V probably benign Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,333,743 (GRCm39) T93A possibly damaging Het
Pkdrej A T 15: 85,705,368 (GRCm39) Y189* probably null Het
Pknox2 A T 9: 36,834,934 (GRCm39) N178K possibly damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plxnd1 A C 6: 115,935,581 (GRCm39) L1735R probably damaging Het
Polm T A 11: 5,787,663 (GRCm39) D30V possibly damaging Het
Rap1gap2 T A 11: 74,328,265 (GRCm39) I100F probably damaging Het
Rasgef1c T A 11: 49,869,294 (GRCm39) W414R probably benign Het
Rassf1 A G 9: 107,435,066 (GRCm39) D187G probably benign Het
Rhag T C 17: 41,147,329 (GRCm39) I397T probably benign Het
Rnft2 A G 5: 118,366,928 (GRCm39) F269S probably damaging Het
Rnmt T C 18: 68,447,196 (GRCm39) F360S probably damaging Het
Ror2 C T 13: 53,271,333 (GRCm39) A329T probably benign Het
Slc4a1 T A 11: 102,247,084 (GRCm39) N501I possibly damaging Het
Slc4a7 T A 14: 14,733,856 (GRCm38) S89T probably damaging Het
Sptbn1 G A 11: 30,050,660 (GRCm39) H2310Y probably benign Het
Tbc1d9b C A 11: 50,031,289 (GRCm39) N103K probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tmem100 C T 11: 89,926,389 (GRCm39) T72I probably damaging Het
Ttc38 A G 15: 85,737,164 (GRCm39) T350A probably benign Het
Ubr4 C T 4: 139,177,840 (GRCm39) T3241M probably damaging Het
Unc13d A T 11: 115,964,214 (GRCm39) M350K possibly damaging Het
Vit T C 17: 78,932,543 (GRCm39) I550T probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Zbtb12 T A 17: 35,115,377 (GRCm39) H387Q possibly 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
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'- CTATGTGGGAAGGGCTCAAG -3'
(R):5'- CATGGCCTGATGAGTGATCTG -3'

Sequencing Primer
(F):5'- CAAGGGAGGTGCTTTGGCC -3'
(R):5'- ACGGCGTGCATGAACTCAG -3'
Posted On 2015-10-21