Incidental Mutation 'IGL02170:Ambra1'
| ID |
282847 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
IGL02170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91597432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 56
(T56A)
|
| 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: T56A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: T56A
| 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: T56A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: T56A
| 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: T56A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: T56A
| 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: T56A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: T56A
| 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: T56A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: T56A
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,196 (GRCm39) |
P176L |
probably damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,467 (GRCm39) |
M265V |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,524,173 (GRCm39) |
E1153G |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,184,845 (GRCm39) |
T452A |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,062,103 (GRCm39) |
V674A |
possibly damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,919,994 (GRCm39) |
Y172* |
probably null |
Het |
| Chrdl2 |
A |
T |
7: 99,683,821 (GRCm39) |
T416S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,621 (GRCm39) |
L1095P |
unknown |
Het |
| Dhx16 |
T |
C |
17: 36,200,361 (GRCm39) |
C901R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,656,371 (GRCm39) |
T732A |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,495,069 (GRCm39) |
I1376L |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,217,949 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,816,278 (GRCm39) |
H192L |
probably benign |
Het |
| Evi5 |
T |
A |
5: 107,969,750 (GRCm39) |
T54S |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,592,795 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
T |
17: 75,847,187 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
G |
A |
2: 4,570,988 (GRCm39) |
R306K |
probably damaging |
Het |
| Fxyd7 |
C |
A |
7: 30,744,432 (GRCm39) |
V28L |
possibly damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,294,073 (GRCm39) |
I449K |
probably damaging |
Het |
| Gkn3 |
G |
T |
6: 87,360,493 (GRCm39) |
D167E |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,638,144 (GRCm39) |
Y406F |
probably damaging |
Het |
| Gm8603 |
T |
A |
17: 13,737,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
T |
C |
13: 14,438,743 (GRCm39) |
N880S |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,003,548 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Hscb |
T |
A |
5: 110,987,492 (GRCm39) |
S35C |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,793,113 (GRCm39) |
K357N |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,427,588 (GRCm39) |
I302F |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,215 (GRCm39) |
C351S |
unknown |
Het |
| Mvd |
A |
G |
8: 123,164,747 (GRCm39) |
V142A |
probably benign |
Het |
| Myo1f |
A |
T |
17: 33,797,246 (GRCm39) |
I143L |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,565,849 (GRCm39) |
E599D |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,538,104 (GRCm39) |
C495* |
probably null |
Het |
| Nfx1 |
G |
A |
4: 41,018,019 (GRCm39) |
G920E |
probably damaging |
Het |
| Nlrp4g |
T |
G |
9: 124,348,980 (GRCm38) |
|
noncoding transcript |
Het |
| Nup85 |
T |
A |
11: 115,468,757 (GRCm39) |
V200E |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,906 (GRCm39) |
I290F |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,120 (GRCm39) |
M302V |
probably benign |
Het |
| Pask |
T |
C |
1: 93,238,606 (GRCm39) |
Q1293R |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,636,646 (GRCm39) |
S232T |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,612 (GRCm39) |
R1285W |
unknown |
Het |
| Rimoc1 |
C |
T |
15: 4,015,848 (GRCm39) |
V239I |
probably benign |
Het |
| Rxylt1 |
A |
T |
10: 121,930,548 (GRCm39) |
D126E |
probably damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,880,153 (GRCm39) |
F278I |
possibly damaging |
Het |
| Sos1 |
G |
T |
17: 80,705,719 (GRCm39) |
T1284N |
probably damaging |
Het |
| Sp2 |
T |
A |
11: 96,847,036 (GRCm39) |
Q475L |
probably damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,444,917 (GRCm39) |
T2134S |
possibly damaging |
Het |
| Tbx1 |
C |
A |
16: 18,401,552 (GRCm39) |
A300S |
probably benign |
Het |
| Uap1 |
A |
C |
1: 169,994,281 (GRCm39) |
V65G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,123 (GRCm39) |
T738I |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,758,297 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r116 |
T |
G |
17: 23,603,907 (GRCm39) |
I44S |
probably benign |
Het |
| Xkr8 |
A |
T |
4: 132,455,688 (GRCm39) |
Y228* |
probably null |
Het |
| Zbtb20 |
A |
G |
16: 43,430,025 (GRCm39) |
I106V |
possibly damaging |
Het |
| Zc3h7a |
C |
T |
16: 10,964,259 (GRCm39) |
S683N |
probably benign |
Het |
| Zfp146 |
A |
T |
7: 29,861,905 (GRCm39) |
C46S |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,662 (GRCm39) |
E152G |
possibly damaging |
Het |
| Zfp90 |
T |
C |
8: 107,146,156 (GRCm39) |
V57A |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,621,718 (GRCm39) |
N816K |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation