Incidental Mutation 'R6595:Bag4'
| ID |
524871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bag4
|
| Ensembl Gene |
ENSMUSG00000037316 |
| Gene Name |
BCL2-associated athanogene 4 |
| Synonyms |
2410112I15Rik |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26254566-26275237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26259528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 224
(D224N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038498]
|
| AlphaFold |
Q8CI61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038498
AA Change: D224N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316
AA Change: D224N
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210103
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
Het |
|
| Other mutations in Bag4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R1103:Bag4
|
UTSW |
8 |
26,257,891 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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'- AATAGCACTCGGAAGGCCTC -3'
(R):5'- AGCCAGGTTTTCTCAGGTG -3'
Sequencing Primer
(F):5'- TCCTACCTTAGGCTGCTGAGG -3'
(R):5'- CTCAGGTGTGGAGAACTTTTGGTAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation