Incidental Mutation 'IGL02146:Bag6'
ID 281779
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02146
Quality Score
Status
Chromosome 17
Chromosomal Location 35354154-35366298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35355191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000025250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025249] [ENSMUST00000025250] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173550] [ENSMUST00000173535] [ENSMUST00000173491] [ENSMUST00000174478] [ENSMUST00000173952] [ENSMUST00000174281]
AlphaFold Q9Z1R2
Predicted Effect probably benign
Transcript: ENSMUST00000025249
SMART Domains Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

DomainStartEndE-ValueType
Pfam:ApoM 1 189 9.2e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000025250
AA Change: T30A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: T30A

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: T30A
SMART Domains Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: T30A

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: T30A
SMART Domains Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: T30A

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: ENSMUST00000172889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173351
Predicted Effect possibly damaging
Transcript: ENSMUST00000173550
AA Change: T30A

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: T30A

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 possibly damaging
Transcript: ENSMUST00000173535
AA Change: T71A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: T71A

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: ENSMUST00000173491
AA Change: T30A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392
AA Change: T30A

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
AA Change: T30A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392
AA Change: T30A

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173952
AA Change: T71A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134717
Gene: ENSMUSG00000024392
AA Change: T71A

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: T30A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: T30A

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 noncoding transcript
Transcript: ENSMUST00000174797
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,023 (GRCm39) C784R possibly damaging Het
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Bst1 T A 5: 43,983,678 (GRCm39) H221Q probably damaging Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Cnep1r1 T C 8: 88,856,326 (GRCm39) V34A probably benign Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Cyp20a1 A T 1: 60,410,410 (GRCm39) K237I possibly damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Tll2 C A 19: 41,086,276 (GRCm39) V651L probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T 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
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
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
Posted On 2015-04-16