Incidental Mutation 'R6084:Bag4'
ID 482391
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
MMRRC Submission 044243-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6084 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 25764538-25785287 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25771231 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
Ref Sequence ENSEMBL: ENSMUSP00000044725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038498]
AlphaFold Q8CI61
Predicted Effect probably benign
Transcript: ENSMUST00000038498
AA Change: T161A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: T161A

low complexity region 5 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
low complexity region 131 146 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
low complexity region 276 301 N/A INTRINSIC
BAG 379 456 3.66e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167899
SMART Domains Protein: ENSMUSP00000130277
Gene: ENSMUSG00000091514

low complexity region 86 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210103
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant animals may show enhanced cytokine response and increased IL-6 production following TNF challenge. Studies on two different alleles of this gene are not in agreement. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,670,954 (GRCm38) D958G possibly damaging Het
Bora A T 14: 99,062,294 (GRCm38) Q234L possibly damaging Het
Cacna2d2 T C 9: 107,497,521 (GRCm38) probably null Het
Cass4 G T 2: 172,426,912 (GRCm38) A307S probably benign Het
Cbln4 A T 2: 172,042,096 (GRCm38) V68E probably damaging Het
Cc2d2a T A 5: 43,668,673 (GRCm38) N2K probably benign Het
Ccnf T A 17: 24,231,837 (GRCm38) D389V probably damaging Het
Cdipt T C 7: 126,979,601 (GRCm38) S161P probably benign Het
Ceacam19 T C 7: 19,882,887 (GRCm38) I161V probably benign Het
Cfap65 A G 1: 74,920,405 (GRCm38) I862T probably damaging Het
Cfi T A 3: 129,858,370 (GRCm38) L230Q probably benign Het
Chac2 G A 11: 30,986,159 (GRCm38) R30W probably damaging Het
Cmc2 G A 8: 116,889,827 (GRCm38) probably benign Het
Col1a2 A T 6: 4,505,840 (GRCm38) M1L probably benign Het
Cox8a C A 19: 7,217,418 (GRCm38) R32L possibly damaging Het
Cubn T A 2: 13,430,897 (GRCm38) N1083Y probably damaging Het
D430042O09Rik G A 7: 125,814,865 (GRCm38) G394R probably benign Het
D630003M21Rik T C 2: 158,217,584 (GRCm38) D132G probably damaging Het
Dedd2 G A 7: 25,211,290 (GRCm38) P154S probably benign Het
Dnaaf3 T C 7: 4,524,213 (GRCm38) D358G probably benign Het
Dysf T C 6: 84,112,119 (GRCm38) L888P probably damaging Het
Dysf T A 6: 84,019,604 (GRCm38) F29L probably damaging Het
Ebf4 A G 2: 130,309,723 (GRCm38) D277G probably damaging Het
Ecm2 T A 13: 49,515,094 (GRCm38) L91* probably null Het
Foxs1 T C 2: 152,932,842 (GRCm38) D97G possibly damaging Het
Frs2 A C 10: 117,076,809 (GRCm38) probably null Het
Gm6768 A G 12: 119,261,651 (GRCm38) noncoding transcript Het
Grp A T 18: 65,879,937 (GRCm38) D58V probably damaging Het
Hif1a T G 12: 73,941,842 (GRCm38) F537C probably damaging Het
Icam4 G A 9: 21,029,539 (GRCm38) S29N probably benign Het
Itfg1 T C 8: 85,726,170 (GRCm38) E523G probably benign Het
Jph2 T C 2: 163,375,680 (GRCm38) K359E probably damaging Het
Kcnq2 A T 2: 181,087,656 (GRCm38) V490E possibly damaging Het
Klhl18 C T 9: 110,428,727 (GRCm38) M548I possibly damaging Het
Lpin3 A G 2: 160,895,801 (GRCm38) Y197C probably benign Het
Lrp1 T C 10: 127,560,553 (GRCm38) N2381D probably benign Het
Man1a A T 10: 53,919,211 (GRCm38) W649R probably damaging Het
Map4 T C 9: 110,064,292 (GRCm38) L542P probably damaging Het
Mboat2 A T 12: 24,878,285 (GRCm38) H52L probably damaging Het
Mok C G 12: 110,814,946 (GRCm38) S91T probably benign Het
Mtmr11 G T 3: 96,168,084 (GRCm38) R360L probably damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Olfr1288 A T 2: 111,479,389 (GRCm38) N202Y probably damaging Het
Olfr341 A G 2: 36,479,512 (GRCm38) V206A probably benign Het
Olfr544 T C 7: 102,484,389 (GRCm38) T244A probably damaging Het
Olfr67 C T 7: 103,787,955 (GRCm38) M107I probably benign Het
Olfr836 A G 9: 19,121,327 (GRCm38) D121G probably damaging Het
Olfr867 A T 9: 20,054,883 (GRCm38) H75Q possibly damaging Het
Padi3 G T 4: 140,795,843 (GRCm38) T292N probably damaging Het
Pard6g A C 18: 80,117,205 (GRCm38) T178P possibly damaging Het
Pkd1l2 A T 8: 117,013,987 (GRCm38) Y2124N probably damaging Het
Plxdc1 G A 11: 97,928,463 (GRCm38) T398I probably damaging Het
Prickle2 A T 6: 92,416,848 (GRCm38) C225* probably null Het
Prmt2 G A 10: 76,210,444 (GRCm38) T317I probably benign Het
Psg22 T G 7: 18,719,780 (GRCm38) N172K probably benign Het
Ptpn9 C T 9: 57,033,163 (GRCm38) R196* probably null Het
Rap1b C T 10: 117,824,611 (GRCm38) V14I probably damaging Het
Rapgef4 T A 2: 72,196,278 (GRCm38) probably null Het
Rlf A T 4: 121,149,215 (GRCm38) M856K possibly damaging Het
Rnf149 A G 1: 39,577,174 (GRCm38) L34P probably benign Het
Rock1 T C 18: 10,101,007 (GRCm38) E636G probably benign Het
Rsad2 A T 12: 26,454,123 (GRCm38) Y136N probably damaging Het
Ryr3 T C 2: 112,908,493 (GRCm38) H563R probably damaging Het
Slc18b1 A G 10: 23,804,212 (GRCm38) M102V probably benign Het
Slc34a2 T A 5: 53,067,647 (GRCm38) C377S possibly damaging Het
Slco1c1 T C 6: 141,546,770 (GRCm38) V293A probably benign Het
Spidr A T 16: 16,140,024 (GRCm38) S80T possibly damaging Het
Syne1 C T 10: 5,348,994 (GRCm38) E1031K probably damaging Het
Synj2 G A 17: 6,017,614 (GRCm38) V121I probably damaging Het
Synj2 A T 17: 6,038,098 (GRCm38) T1430S probably damaging Het
Tecpr2 G T 12: 110,929,109 (GRCm38) K343N probably damaging Het
Tmem132d T A 5: 127,784,100 (GRCm38) I986F probably benign Het
Trib1 G A 15: 59,654,475 (GRCm38) R298H probably damaging Het
Ttll10 T A 4: 156,045,357 (GRCm38) D283V probably benign Het
Ttn T A 2: 76,814,779 (GRCm38) K673* probably null Het
Ubqlnl T A 7: 104,148,698 (GRCm38) M531L probably benign Het
Vmn2r120 A T 17: 57,525,721 (GRCm38) W153R probably benign Het
Vmn2r2 A C 3: 64,117,046 (GRCm38) S705A probably benign Het
Vmn2r32 T A 7: 7,464,210 (GRCm38) D773V probably benign Het
Vmn2r54 T A 7: 12,632,278 (GRCm38) Q243L probably damaging Het
Wdr24 C A 17: 25,824,530 (GRCm38) R109S probably damaging Het
Zfp113 T C 5: 138,145,668 (GRCm38) M107V probably benign Het
Zfp426 G T 9: 20,470,627 (GRCm38) Q341K possibly damaging Het
Zfp616 A T 11: 74,083,846 (GRCm38) K314* probably null Het
Other mutations in Bag4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Bag4 APN 8 25,771,225 (GRCm38) missense probably benign
IGL02074:Bag4 APN 8 25,769,355 (GRCm38) missense possibly damaging 0.87
IGL02129:Bag4 APN 8 25,768,085 (GRCm38) missense probably damaging 1.00
IGL02183:Bag4 APN 8 25,768,030 (GRCm38) missense probably damaging 1.00
IGL02441:Bag4 APN 8 25,768,108 (GRCm38) missense probably damaging 1.00
R0414:Bag4 UTSW 8 25,767,997 (GRCm38) missense possibly damaging 0.91
R1103:Bag4 UTSW 8 25,767,863 (GRCm38) utr 3 prime probably benign
R1423:Bag4 UTSW 8 25,768,274 (GRCm38) missense probably damaging 0.99
R1650:Bag4 UTSW 8 25,777,424 (GRCm38) missense probably damaging 0.99
R2045:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R2333:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R2945:Bag4 UTSW 8 25,771,252 (GRCm38) missense probably benign 0.08
R3124:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R3125:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4428:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4429:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4431:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4467:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4482:Bag4 UTSW 8 25,785,044 (GRCm38) unclassified probably benign
R4538:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4539:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4541:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4542:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4663:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4708:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4710:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4732:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4733:Bag4 UTSW 8 25,769,488 (GRCm38) missense probably benign
R4970:Bag4 UTSW 8 25,771,244 (GRCm38) nonsense probably null
R5175:Bag4 UTSW 8 25,768,351 (GRCm38) missense probably damaging 0.99
R6032:Bag4 UTSW 8 25,777,493 (GRCm38) missense probably damaging 1.00
R6032:Bag4 UTSW 8 25,777,493 (GRCm38) missense probably damaging 1.00
R6595:Bag4 UTSW 8 25,769,500 (GRCm38) missense probably damaging 1.00
R6596:Bag4 UTSW 8 25,769,500 (GRCm38) missense probably damaging 1.00
R7564:Bag4 UTSW 8 25,777,479 (GRCm38) nonsense probably null
R7606:Bag4 UTSW 8 25,769,305 (GRCm38) missense probably damaging 0.99
R9225:Bag4 UTSW 8 25,771,242 (GRCm38) missense probably benign
R9323:Bag4 UTSW 8 25,785,152 (GRCm38) nonsense probably null
R9323:Bag4 UTSW 8 25,771,333 (GRCm38) missense possibly damaging 0.74
R9572:Bag4 UTSW 8 25,768,275 (GRCm38) nonsense probably null
R9781:Bag4 UTSW 8 25,769,536 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Posted On 2017-07-14