Incidental Mutation 'R2083:Ambra1'
| ID |
230128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
040088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R2083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91596945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 12
(I12N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
| AlphaFold |
A2AH22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045699
AA Change: I12N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: I12N
| 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 |
possibly damaging
Transcript: ENSMUST00000045705
AA Change: I12N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: I12N
| 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 |
possibly damaging
Transcript: ENSMUST00000099712
AA Change: I12N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: I12N
| 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 |
possibly damaging
Transcript: ENSMUST00000111316
AA Change: I12N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: I12N
| 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 |
possibly damaging
Transcript: ENSMUST00000111317
AA Change: I12N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: I12N
| 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 |
noncoding transcript
Transcript: ENSMUST00000124132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156496
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
| AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,677,528 (GRCm39) |
K507N |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
| Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
| En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
| Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,389 (GRCm39) |
T173A |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
| Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
| Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
| Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
| Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
| Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
| Tas1r1 |
T |
A |
4: 152,112,848 (GRCm39) |
H735L |
probably benign |
Het |
| Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
| Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,208 (GRCm39) |
I586V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,660,770 (GRCm39) |
D13G |
probably damaging |
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 |
|
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 |
|
R7458:Ambra1
|
UTSW |
2 |
91,748,029 (GRCm39) |
missense |
probably benign |
0.26 |
|
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'- GGAGCCTCTCTGGTGTAGAATAGG -3'
(R):5'- GCTATATCAAGTCTCAGGGACAAG -3'
Sequencing Primer
(F):5'- CTGGTGTAGAATAGGCATTATTTGAC -3'
(R):5'- CTCCACAAATCCTAGGTCA -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation