Incidental Mutation 'R5740:Bag1'
| ID |
462609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bag1
|
| Ensembl Gene |
ENSMUSG00000028416 |
| Gene Name |
BCL2-associated athanogene 1 |
| Synonyms |
Rap46 |
| MMRRC Submission |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
40936398-40948294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40941526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 269
(Q269R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030125]
[ENSMUST00000030125]
[ENSMUST00000108089]
[ENSMUST00000108089]
[ENSMUST00000191273]
[ENSMUST00000191273]
[ENSMUST00000215842]
[ENSMUST00000215842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030125
AA Change: Q269R
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: Q269R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
UBQ
|
154 |
230 |
9.52e-11 |
SMART |
|
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
BAG
|
256 |
336 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000030125
AA Change: Q269R
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030125
Gene: ENSMUSG00000028416
AA Change: Q269R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
UBQ
|
154 |
230 |
9.52e-11 |
SMART |
|
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
BAG
|
256 |
336 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108089
AA Change: Q133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416
AA Change: Q133R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
UBQ
|
18 |
94 |
9.52e-11 |
SMART |
|
low complexity region
|
99 |
112 |
N/A |
INTRINSIC |
|
BAG
|
120 |
200 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108089
AA Change: Q133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103724
Gene: ENSMUSG00000028416
AA Change: Q133R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
UBQ
|
18 |
94 |
9.52e-11 |
SMART |
|
low complexity region
|
99 |
112 |
N/A |
INTRINSIC |
|
BAG
|
120 |
200 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191273
AA Change: Q133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416
AA Change: Q133R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
UBQ
|
18 |
94 |
9.52e-11 |
SMART |
|
low complexity region
|
99 |
112 |
N/A |
INTRINSIC |
|
BAG
|
120 |
200 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191273
AA Change: Q133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139864
Gene: ENSMUSG00000028416
AA Change: Q133R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
UBQ
|
18 |
94 |
9.52e-11 |
SMART |
|
low complexity region
|
99 |
112 |
N/A |
INTRINSIC |
|
BAG
|
120 |
200 |
1.92e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215842
AA Change: Q269R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215842
AA Change: Q269R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The oncogene Bcl2 encodes a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to Bcl2 protein and is referred to as Bcl2-associated athanogene. It enhances the anti-apoptotic effects of Bcl2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least two protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) start site and an alternative, downstream, AUG translation initiation site. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality and liver hypoplasia. [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 |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,522,839 (GRCm39) |
M241V |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,374 (GRCm39) |
M167K |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,182 (GRCm39) |
K465N |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,551,664 (GRCm39) |
I489N |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
probably benign |
Het |
|
| Other mutations in Bag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Bag1
|
APN |
4 |
40,936,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01810:Bag1
|
APN |
4 |
40,936,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Bag1
|
APN |
4 |
40,941,555 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02657:Bag1
|
APN |
4 |
40,936,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0446:Bag1
|
UTSW |
4 |
40,936,609 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0975:Bag1
|
UTSW |
4 |
40,937,152 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5256:Bag1
|
UTSW |
4 |
40,948,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Bag1
|
UTSW |
4 |
40,948,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7580:Bag1
|
UTSW |
4 |
40,947,836 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9452:Bag1
|
UTSW |
4 |
40,947,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTTGAATCTATCTATACGCAC -3'
(R):5'- CACAAGAGGTTGGCTCAGTTG -3'
Sequencing Primer
(F):5'- AAGGTGTACTGTTCTACTAGCCGAC -3'
(R):5'- CTCAGTTGTTTTAGGTGAGCAATTAC -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation