Incidental Mutation 'R9062:Ambra1'
| ID |
689016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
068888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R9062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91740662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1047
(E1047G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
| AlphaFold |
A2AH22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045699
AA Change: E927G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: E927G
| 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: E1047G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: E1047G
| 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 damaging
Transcript: ENSMUST00000099712
AA Change: E956G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: E956G
| 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: E987G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: E987G
| 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 damaging
Transcript: ENSMUST00000111317
AA Change: E927G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: E927G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfn1 |
T |
G |
11: 89,325,583 (GRCm39) |
I530L |
probably benign |
Het |
| Apob |
A |
T |
12: 8,058,046 (GRCm39) |
Y2176F |
possibly damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,866,459 (GRCm39) |
R171* |
probably null |
Het |
| Atxn10 |
T |
C |
15: 85,275,918 (GRCm39) |
V325A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,890 (GRCm39) |
Y202H |
|
Het |
| Calhm1 |
A |
T |
19: 47,129,828 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cel |
C |
A |
2: 28,451,214 (GRCm39) |
V48F |
probably benign |
Het |
| Cep78 |
T |
A |
19: 15,956,318 (GRCm39) |
Y207F |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,434,100 (GRCm39) |
|
probably null |
Het |
| Cpeb2 |
C |
A |
5: 43,391,171 (GRCm39) |
N122K |
|
Het |
| Cyth1 |
T |
C |
11: 118,023,142 (GRCm39) |
Q432R |
unknown |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,548 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,928 (GRCm39) |
T76A |
probably benign |
Het |
| Etfrf1 |
A |
T |
6: 145,161,153 (GRCm39) |
N41I |
probably damaging |
Het |
| Etl4 |
T |
G |
2: 20,748,616 (GRCm39) |
L318R |
probably damaging |
Het |
| Fam151a |
G |
T |
4: 106,605,306 (GRCm39) |
W556L |
probably benign |
Het |
| Gas2l1 |
A |
G |
11: 5,011,497 (GRCm39) |
V444A |
probably benign |
Het |
| Gbp8 |
A |
G |
5: 105,179,124 (GRCm39) |
I125T |
possibly damaging |
Het |
| Jrkl |
A |
G |
9: 13,245,338 (GRCm39) |
F108L |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,941,536 (GRCm39) |
D980E |
possibly damaging |
Het |
| Leng9 |
C |
T |
7: 4,151,666 (GRCm39) |
A337T |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,757,714 (GRCm39) |
C252G |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,303,925 (GRCm39) |
D113E |
possibly damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,527 (GRCm39) |
Y265C |
probably damaging |
Het |
| Mios |
A |
T |
6: 8,233,221 (GRCm39) |
I790F |
probably benign |
Het |
| Mlf2 |
G |
A |
6: 124,911,334 (GRCm39) |
|
silent |
Het |
| Mycbp2 |
T |
A |
14: 103,479,796 (GRCm39) |
Y1226F |
probably benign |
Het |
| Ncoa6 |
T |
A |
2: 155,263,348 (GRCm39) |
Q362L |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,341,692 (GRCm39) |
D2020G |
possibly damaging |
Het |
| Or4a73 |
T |
C |
2: 89,420,923 (GRCm39) |
M179V |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,548 (GRCm39) |
T287S |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,155 (GRCm39) |
I110L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,421 (GRCm39) |
I150F |
probably benign |
Het |
| Otop2 |
C |
A |
11: 115,214,465 (GRCm39) |
A74E |
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,843,954 (GRCm39) |
I579T |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,116,196 (GRCm39) |
V137A |
probably benign |
Het |
| Psap |
G |
T |
10: 60,131,738 (GRCm39) |
V244L |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,900,266 (GRCm39) |
S1134P |
probably benign |
Het |
| Skp2 |
G |
T |
15: 9,113,821 (GRCm39) |
P399Q |
probably damaging |
Het |
| Slc47a1 |
T |
G |
11: 61,253,924 (GRCm39) |
I222L |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,945 (GRCm39) |
W2022R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,601,717 (GRCm39) |
L1515S |
unknown |
Het |
| Sri |
T |
C |
5: 8,106,625 (GRCm39) |
Y13H |
unknown |
Het |
| Tcf25 |
T |
C |
8: 124,116,448 (GRCm39) |
F248L |
|
Het |
| Tdrd12 |
T |
C |
7: 35,179,694 (GRCm39) |
T885A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,600,944 (GRCm39) |
T18813A |
probably damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,740 (GRCm39) |
V441A |
possibly damaging |
Het |
| Vwa1 |
A |
T |
4: 155,854,820 (GRCm39) |
S405T |
probably benign |
Het |
| Zbbx |
A |
T |
3: 74,989,124 (GRCm39) |
H326Q |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,747 (GRCm39) |
T622A |
probably benign |
Het |
| Zfp677 |
T |
G |
17: 21,612,815 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GGCTCCAAGAAGAAGCCTATTGAAG -3'
(R):5'- GACTGTACGTAAAAGCCTAAGACAG -3'
Sequencing Primer
(F):5'- TGAGATGCTCCAATATTGAGCACC -3'
(R):5'- CCTAAGACAGGTAACAGATCAAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation