Incidental Mutation 'R7458:Ambra1'
| ID |
578237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
045532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R7458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91748029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1255
(V1255D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
| AlphaFold |
A2AH22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045699
AA Change: V1135D
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: V1135D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
81 |
4.11e1 |
SMART |
|
WD40
|
84 |
124 |
1.16e-9 |
SMART |
|
WD40
|
126 |
164 |
1.19e0 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
643 |
N/A |
INTRINSIC |
|
Blast:WD40
|
812 |
850 |
1e-5 |
BLAST |
|
Blast:WD40
|
871 |
918 |
1e-7 |
BLAST |
|
low complexity region
|
942 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045705
AA Change: V1255D
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: V1255D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
81 |
4.11e1 |
SMART |
|
WD40
|
84 |
124 |
1.16e-9 |
SMART |
|
WD40
|
126 |
164 |
1.19e0 |
SMART |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
763 |
N/A |
INTRINSIC |
|
Blast:WD40
|
932 |
970 |
1e-5 |
BLAST |
|
Blast:WD40
|
991 |
1038 |
1e-7 |
BLAST |
|
low complexity region
|
1062 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099712
AA Change: V1164D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: V1164D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
81 |
4.11e1 |
SMART |
|
WD40
|
84 |
124 |
1.16e-9 |
SMART |
|
WD40
|
126 |
164 |
1.19e0 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
672 |
N/A |
INTRINSIC |
|
Blast:WD40
|
841 |
879 |
1e-5 |
BLAST |
|
Blast:WD40
|
900 |
947 |
1e-7 |
BLAST |
|
low complexity region
|
971 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1055 |
N/A |
INTRINSIC |
|
low complexity region
|
1156 |
1172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111316
AA Change: V1195D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: V1195D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
81 |
4.11e1 |
SMART |
|
WD40
|
84 |
124 |
1.16e-9 |
SMART |
|
WD40
|
126 |
164 |
1.19e0 |
SMART |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
704 |
N/A |
INTRINSIC |
|
Blast:WD40
|
872 |
910 |
1e-5 |
BLAST |
|
Blast:WD40
|
931 |
978 |
1e-7 |
BLAST |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1187 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111317
AA Change: V1135D
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: V1135D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
81 |
4.11e1 |
SMART |
|
WD40
|
84 |
124 |
1.16e-9 |
SMART |
|
WD40
|
126 |
164 |
1.19e0 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
643 |
N/A |
INTRINSIC |
|
Blast:WD40
|
812 |
850 |
1e-5 |
BLAST |
|
Blast:WD40
|
871 |
918 |
1e-7 |
BLAST |
|
low complexity region
|
942 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1012 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
PHENOTYPE: Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,338,510 (GRCm39) |
V501M |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,240,777 (GRCm39) |
F880S |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,976,516 (GRCm39) |
R206S |
possibly damaging |
Het |
| Akr1a1 |
A |
T |
4: 116,495,014 (GRCm39) |
M286K |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,492 (GRCm39) |
E406G |
possibly damaging |
Het |
| Apol7e |
C |
T |
15: 77,598,604 (GRCm39) |
T23I |
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,196 (GRCm39) |
Y711C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,307,119 (GRCm39) |
E1034G |
|
Het |
| Bricd5 |
T |
C |
17: 24,693,476 (GRCm39) |
I39T |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,800,096 (GRCm39) |
T163A |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,436,978 (GRCm39) |
V72A |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,263,779 (GRCm39) |
D199G |
probably damaging |
Het |
| Clip1 |
T |
G |
5: 123,778,609 (GRCm39) |
E438A |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,669 (GRCm39) |
I553M |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,003,738 (GRCm39) |
N2605K |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,155,094 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,161,036 (GRCm39) |
D2168V |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,290 (GRCm39) |
N443K |
possibly damaging |
Het |
| Gak |
T |
C |
5: 108,730,940 (GRCm39) |
D822G |
probably benign |
Het |
| Gm9493 |
A |
G |
19: 23,597,277 (GRCm39) |
I58V |
probably benign |
Het |
| Gpr65 |
T |
G |
12: 98,242,324 (GRCm39) |
S326A |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,057,739 (GRCm39) |
E231G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,122,802 (GRCm39) |
D718G |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,223 (GRCm39) |
M1V |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,293,660 (GRCm39) |
|
probably null |
Het |
| Lipn |
A |
G |
19: 34,049,242 (GRCm39) |
N136S |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,258 (GRCm39) |
T2389I |
unknown |
Het |
| Myo7b |
G |
A |
18: 32,121,604 (GRCm39) |
A767V |
possibly damaging |
Het |
| Necab1 |
A |
T |
4: 15,111,244 (GRCm39) |
S61R |
possibly damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,994 (GRCm39) |
T278A |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,699,260 (GRCm39) |
R21H |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,667,560 (GRCm39) |
T116I |
probably damaging |
Het |
| Pnn |
C |
A |
12: 59,119,200 (GRCm39) |
S594R |
unknown |
Het |
| Psen1 |
T |
A |
12: 83,761,540 (GRCm39) |
I114N |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,188 (GRCm39) |
V82E |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,368 (GRCm39) |
I246T |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,296,390 (GRCm39) |
Y308F |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,662,930 (GRCm39) |
A166E |
possibly damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,382,881 (GRCm39) |
V140D |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,937 (GRCm39) |
T1704A |
probably benign |
Het |
| Txndc12 |
A |
G |
4: 108,718,606 (GRCm39) |
D159G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,427,139 (GRCm39) |
L16P |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,692,532 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn2r58 |
C |
A |
7: 41,487,123 (GRCm39) |
A591S |
probably benign |
Het |
| Wdpcp |
T |
C |
11: 21,698,919 (GRCm39) |
I566T |
probably damaging |
Het |
| Zfp866 |
T |
A |
8: 70,218,202 (GRCm39) |
K473* |
probably null |
Het |
|
| Other mutations in Ambra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ambra1
|
APN |
2 |
91,741,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00861:Ambra1
|
APN |
2 |
91,601,271 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00911:Ambra1
|
APN |
2 |
91,598,027 (GRCm39) |
splice site |
probably benign |
|
|
IGL01371:Ambra1
|
APN |
2 |
91,655,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Ambra1
|
APN |
2 |
91,715,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Ambra1
|
APN |
2 |
91,741,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02147:Ambra1
|
APN |
2 |
91,598,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02170:Ambra1
|
APN |
2 |
91,597,432 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02173:Ambra1
|
APN |
2 |
91,748,013 (GRCm39) |
missense |
probably benign |
|
|
IGL02212:Ambra1
|
APN |
2 |
91,747,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Ambra1
|
APN |
2 |
91,599,399 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02319:Ambra1
|
APN |
2 |
91,717,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Ambra1
|
APN |
2 |
91,730,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Ambra1
|
APN |
2 |
91,741,793 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0003:Ambra1
|
UTSW |
2 |
91,741,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Ambra1
|
UTSW |
2 |
91,598,056 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0173:Ambra1
|
UTSW |
2 |
91,640,564 (GRCm39) |
splice site |
probably benign |
|
|
R0414:Ambra1
|
UTSW |
2 |
91,706,084 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0579:Ambra1
|
UTSW |
2 |
91,654,810 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1212:Ambra1
|
UTSW |
2 |
91,599,381 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1241:Ambra1
|
UTSW |
2 |
91,601,241 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Ambra1
|
UTSW |
2 |
91,716,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Ambra1
|
UTSW |
2 |
91,716,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Ambra1
|
UTSW |
2 |
91,717,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Ambra1
|
UTSW |
2 |
91,741,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2080:Ambra1
|
UTSW |
2 |
91,716,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Ambra1
|
UTSW |
2 |
91,596,945 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2112:Ambra1
|
UTSW |
2 |
91,706,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Ambra1
|
UTSW |
2 |
91,747,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Ambra1
|
UTSW |
2 |
91,740,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Ambra1
|
UTSW |
2 |
91,640,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Ambra1
|
UTSW |
2 |
91,730,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Ambra1
|
UTSW |
2 |
91,603,191 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4879:Ambra1
|
UTSW |
2 |
91,603,039 (GRCm39) |
intron |
probably benign |
|
|
R5007:Ambra1
|
UTSW |
2 |
91,602,655 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5261:Ambra1
|
UTSW |
2 |
91,715,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Ambra1
|
UTSW |
2 |
91,706,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Ambra1
|
UTSW |
2 |
91,603,661 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6413:Ambra1
|
UTSW |
2 |
91,599,429 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6868:Ambra1
|
UTSW |
2 |
91,747,878 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6888:Ambra1
|
UTSW |
2 |
91,599,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Ambra1
|
UTSW |
2 |
91,747,761 (GRCm39) |
nonsense |
probably null |
|
|
R6970:Ambra1
|
UTSW |
2 |
91,602,945 (GRCm39) |
intron |
probably benign |
|
|
R6982:Ambra1
|
UTSW |
2 |
91,747,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Ambra1
|
UTSW |
2 |
91,598,103 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7786:Ambra1
|
UTSW |
2 |
91,598,141 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7812:Ambra1
|
UTSW |
2 |
91,596,911 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R7825:Ambra1
|
UTSW |
2 |
91,598,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Ambra1
|
UTSW |
2 |
91,603,838 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8190:Ambra1
|
UTSW |
2 |
91,602,697 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8779:Ambra1
|
UTSW |
2 |
91,747,719 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9044:Ambra1
|
UTSW |
2 |
91,740,434 (GRCm39) |
intron |
probably benign |
|
|
R9062:Ambra1
|
UTSW |
2 |
91,740,662 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9707:Ambra1
|
UTSW |
2 |
91,640,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ambra1
|
UTSW |
2 |
91,730,953 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Ambra1
|
UTSW |
2 |
91,706,131 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Ambra1
|
UTSW |
2 |
91,599,344 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCGTTAGCCACCGCATTC -3'
(R):5'- ACAGTTCCCAGTCAGCTGTG -3'
Sequencing Primer
(F):5'- TTCACCGCAGCTCCCAG -3'
(R):5'- TTCCCAGTCAGCTGTGAGGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation