Incidental Mutation 'IGL02173:Ambra1'
ID |
282984 |
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 # |
IGL02173
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91748013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1130
(S1130P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
AlphaFold |
A2AH22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045699
AA Change: S1130P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048898 Gene: ENSMUSG00000040506 AA Change: S1130P
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: S1250P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049258 Gene: ENSMUSG00000040506 AA Change: S1250P
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 |
noncoding transcript
Transcript: ENSMUST00000099710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099712
AA Change: S1159P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097299 Gene: ENSMUSG00000040506 AA Change: S1159P
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: S1190P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106948 Gene: ENSMUSG00000040506 AA Change: S1190P
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: S1130P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106949 Gene: ENSMUSG00000040506 AA Change: S1130P
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 |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
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 |
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 |