Incidental Mutation 'R6300:Bag6'
ID 509065
Institutional Source Beutler Lab
Gene Symbol Bag6
Ensembl Gene ENSMUSG00000024392
Gene Name BCL2-associated athanogene 6
Synonyms 2410045D21Rik, G3, D17H6S52E, Bat3, Scythe
MMRRC Submission 044409-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6300 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35354154-35366298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35357577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 122 (V122A)
Ref Sequence ENSEMBL: ENSMUSP00000134717 (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: V81A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: V81A

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: V81A
SMART Domains Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: V81A

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: V81A
SMART Domains Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: V81A

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 probably damaging
Transcript: ENSMUST00000173491
AA Change: V81A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392
AA Change: V81A

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: V122A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: V122A

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: V81A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: V81A

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 damaging
Transcript: ENSMUST00000173952
AA Change: V122A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134717
Gene: ENSMUSG00000024392
AA Change: V122A

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: V81A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: V81A

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: ENSMUST00000174478
AA Change: V81A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392
AA Change: V81A

DomainStartEndE-ValueType
UBQ 17 87 5.62e-22 SMART
low complexity region 96 112 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174613
Meta Mutation Damage Score 0.2645 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S 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
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'- AACAGCGGCTCATCTACCAG -3'
(R):5'- TGCAGCTGCCATAACCAAAG -3'

Sequencing Primer
(F):5'- TCATCTACCAGGGCCGG -3'
(R):5'- CTCACAGGAAGATTGAAGGTTCC -3'
Posted On 2018-04-02