Incidental Mutation 'R1103:Bag4'
ID 98271
Institutional Source Beutler Lab
Gene Symbol Bag4
Ensembl Gene ENSMUSG00000037316
Gene Name BCL2-associated athanogene 4
Synonyms 2410112I15Rik
MMRRC Submission 039176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R1103 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26254566-26275237 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 26257891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038498]
AlphaFold Q8CI61
Predicted Effect probably benign
Transcript: ENSMUST00000038498
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210103
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 97% (60/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930524J08Rik G A 5: 100,126,980 (GRCm39) probably benign Het
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Adpgk A G 9: 59,221,079 (GRCm39) H295R probably damaging Het
Aftph A T 11: 20,676,547 (GRCm39) M199K probably benign Het
Ap2a1 C A 7: 44,553,593 (GRCm39) probably benign Het
Atpaf2 T C 11: 60,294,776 (GRCm39) I216V probably benign Het
Bltp1 A T 3: 37,050,672 (GRCm39) M3003L probably benign Het
Bud23 T C 5: 135,089,993 (GRCm39) S67G probably damaging Het
Cfap157 A G 2: 32,671,410 (GRCm39) F132S probably damaging Het
Cngb3 G A 4: 19,309,658 (GRCm39) probably null Het
Cntnap5a A G 1: 116,508,399 (GRCm39) I1304V possibly damaging Het
Cp A G 3: 20,036,149 (GRCm39) K764E possibly damaging Het
Crebbp A G 16: 3,901,925 (GRCm39) V2438A probably damaging Het
Csmd3 A T 15: 47,811,402 (GRCm39) W1230R probably damaging Het
Cul1 G A 6: 47,494,111 (GRCm39) V475I probably benign Het
Dnttip2 T C 3: 122,070,071 (GRCm39) S429P probably benign Het
Dtwd1 T C 2: 125,996,643 (GRCm39) S43P probably damaging Het
Ect2l T C 10: 18,016,274 (GRCm39) T705A probably damaging Het
Erbin G T 13: 104,022,710 (GRCm39) T43N probably benign Het
Fcgbpl1 G T 7: 27,853,945 (GRCm39) L1636F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gpr150 G T 13: 76,203,712 (GRCm39) P411Q probably damaging Het
Grap C A 11: 61,562,544 (GRCm39) Q172K probably benign Het
Ido2 G A 8: 25,066,239 (GRCm39) T9M probably benign Het
Klkb1 C A 8: 45,729,183 (GRCm39) C347F probably damaging Het
Klra17 G A 6: 129,845,806 (GRCm39) probably benign Het
Lama1 T C 17: 68,097,942 (GRCm39) L1774P probably damaging Het
Lhpp A T 7: 132,212,484 (GRCm39) D17V probably damaging Het
Lrfn4 T C 19: 4,663,299 (GRCm39) T412A probably benign Het
Lrrc7 C T 3: 157,854,343 (GRCm39) probably benign Het
Ltbp3 A T 19: 5,797,439 (GRCm39) probably null Het
Ltbp3 G C 19: 5,797,440 (GRCm39) probably null Het
Luzp1 T A 4: 136,268,041 (GRCm39) L88Q possibly damaging Het
Magi2 T C 5: 20,816,101 (GRCm39) I747T probably damaging Het
Map1b A T 13: 99,563,974 (GRCm39) probably benign Het
Map3k4 A T 17: 12,455,950 (GRCm39) probably null Het
Map3k5 C A 10: 19,899,422 (GRCm39) D226E probably benign Het
Mtf1 T A 4: 124,732,261 (GRCm39) S440T probably benign Het
Myo18a T A 11: 77,714,156 (GRCm39) L389Q probably damaging Het
Myom2 A G 8: 15,160,827 (GRCm39) D900G probably benign Het
Nfasc T C 1: 132,534,795 (GRCm39) probably benign Het
Obscn A T 11: 58,912,309 (GRCm39) S7044R probably damaging Het
Or5bw2 T A 7: 6,573,111 (GRCm39) N40K probably damaging Het
Or5e1 T C 7: 108,354,090 (GRCm39) V9A possibly damaging Het
Or6k4 T C 1: 173,964,457 (GRCm39) V49A probably benign Het
Pde4c T A 8: 71,201,066 (GRCm39) H421Q probably damaging Het
Pnmt G T 11: 98,278,502 (GRCm39) R156L probably benign Het
Pramel22 A C 4: 143,381,942 (GRCm39) C251W probably damaging Het
Rnf138 A G 18: 21,159,159 (GRCm39) E193G probably damaging Het
Sesn1 G T 10: 41,778,589 (GRCm39) R346L possibly damaging Het
Setd4 G T 16: 93,382,082 (GRCm39) H390Q probably benign Het
Supt6 T C 11: 78,116,299 (GRCm39) E688G possibly damaging Het
Syne2 G A 12: 76,156,609 (GRCm39) D6802N probably benign Het
Syt16 A G 12: 74,313,672 (GRCm39) K533E probably damaging Het
Tg A T 15: 66,591,504 (GRCm39) Q26H probably benign Het
Trim33 G T 3: 103,218,201 (GRCm39) W250L probably damaging Het
Trip4 A G 9: 65,788,188 (GRCm39) C86R probably benign Het
Upf2 T A 2: 6,030,986 (GRCm39) C809S unknown Het
Vrk2 A G 11: 26,499,325 (GRCm39) F76L probably damaging Het
Zfp804a A G 2: 82,087,844 (GRCm39) T558A probably damaging Het
Other mutations in Bag4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Bag4 APN 8 26,261,253 (GRCm39) missense probably benign
IGL02074:Bag4 APN 8 26,259,383 (GRCm39) missense possibly damaging 0.87
IGL02129:Bag4 APN 8 26,258,113 (GRCm39) missense probably damaging 1.00
IGL02183:Bag4 APN 8 26,258,058 (GRCm39) missense probably damaging 1.00
IGL02441:Bag4 APN 8 26,258,136 (GRCm39) missense probably damaging 1.00
R0414:Bag4 UTSW 8 26,258,025 (GRCm39) missense possibly damaging 0.91
R1423:Bag4 UTSW 8 26,258,302 (GRCm39) missense probably damaging 0.99
R1650:Bag4 UTSW 8 26,267,452 (GRCm39) missense probably damaging 0.99
R2045:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R2333:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R2945:Bag4 UTSW 8 26,261,280 (GRCm39) missense probably benign 0.08
R3124:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R3125:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4428:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4429:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4431:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4467:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4482:Bag4 UTSW 8 26,275,072 (GRCm39) unclassified probably benign
R4538:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4539:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4541:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4542:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4663:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4708:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4710:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4732:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4733:Bag4 UTSW 8 26,259,516 (GRCm39) missense probably benign
R4970:Bag4 UTSW 8 26,261,272 (GRCm39) nonsense probably null
R5175:Bag4 UTSW 8 26,258,379 (GRCm39) missense probably damaging 0.99
R6032:Bag4 UTSW 8 26,267,521 (GRCm39) missense probably damaging 1.00
R6032:Bag4 UTSW 8 26,267,521 (GRCm39) missense probably damaging 1.00
R6084:Bag4 UTSW 8 26,261,259 (GRCm39) missense probably benign 0.00
R6595:Bag4 UTSW 8 26,259,528 (GRCm39) missense probably damaging 1.00
R6596:Bag4 UTSW 8 26,259,528 (GRCm39) missense probably damaging 1.00
R7564:Bag4 UTSW 8 26,267,507 (GRCm39) nonsense probably null
R7606:Bag4 UTSW 8 26,259,333 (GRCm39) missense probably damaging 0.99
R9225:Bag4 UTSW 8 26,261,270 (GRCm39) missense probably benign
R9323:Bag4 UTSW 8 26,275,180 (GRCm39) nonsense probably null
R9323:Bag4 UTSW 8 26,261,361 (GRCm39) missense possibly damaging 0.74
R9572:Bag4 UTSW 8 26,258,303 (GRCm39) nonsense probably null
R9781:Bag4 UTSW 8 26,259,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATCTGACAAGCAGCAGCCTACAG -3'
(R):5'- TTCAGATGAGGGCACTCCTCCAAG -3'

Sequencing Primer
(F):5'- GAGGTCTACTTGGCAATACTGAC -3'
(R):5'- CAGACAAAGCGTATTGGCTTC -3'
Posted On 2014-01-05