Incidental Mutation 'IGL02212:Ambra1'
ID |
285544 |
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 # |
IGL02212
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 91747706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1056
(D1056E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
AlphaFold |
A2AH22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045699
AA Change: D1027E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048898 Gene: ENSMUSG00000040506 AA Change: D1027E
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: D1147E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049258 Gene: ENSMUSG00000040506 AA Change: D1147E
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 damaging
Transcript: ENSMUST00000099712
AA Change: D1056E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097299 Gene: ENSMUSG00000040506 AA Change: D1056E
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: D1087E
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106948 Gene: ENSMUSG00000040506 AA Change: D1087E
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: D1027E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106949 Gene: ENSMUSG00000040506 AA Change: D1027E
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,079,233 (GRCm39) |
D1079V |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,127,195 (GRCm39) |
H467R |
probably benign |
Het |
Aoah |
A |
C |
13: 21,187,071 (GRCm39) |
N456T |
probably benign |
Het |
Batf2 |
T |
A |
19: 6,221,991 (GRCm39) |
F267Y |
probably damaging |
Het |
Bbs7 |
C |
T |
3: 36,648,558 (GRCm39) |
V397I |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,723,808 (GRCm39) |
D824E |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Brip1 |
A |
T |
11: 86,029,841 (GRCm39) |
V601E |
possibly damaging |
Het |
Bub1 |
A |
G |
2: 127,647,271 (GRCm39) |
F773L |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,522,345 (GRCm38) |
D606E |
possibly damaging |
Het |
Cenps |
T |
G |
4: 149,213,303 (GRCm39) |
D54A |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,563,502 (GRCm39) |
N1504I |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,382,748 (GRCm39) |
V1340A |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,052,091 (GRCm39) |
S667T |
probably benign |
Het |
Defa38 |
C |
T |
8: 21,585,276 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,189,413 (GRCm39) |
Y272C |
probably damaging |
Het |
Dlx3 |
A |
G |
11: 95,011,467 (GRCm39) |
D107G |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,582,675 (GRCm39) |
N56I |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,609 (GRCm39) |
I331F |
probably damaging |
Het |
Fam167a |
T |
G |
14: 63,700,078 (GRCm39) |
S213A |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,698,729 (GRCm39) |
I2489N |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,151,957 (GRCm39) |
K587E |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,252,881 (GRCm39) |
D116G |
probably damaging |
Het |
Galm |
T |
C |
17: 80,457,546 (GRCm39) |
V194A |
probably benign |
Het |
Gpr180 |
T |
A |
14: 118,397,588 (GRCm39) |
F361I |
probably damaging |
Het |
Gpx2 |
A |
T |
12: 76,839,682 (GRCm39) |
C105* |
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,911 (GRCm39) |
|
probably benign |
Het |
Hes2 |
T |
G |
4: 152,244,982 (GRCm39) |
S150R |
probably damaging |
Het |
Ighv1-56 |
C |
T |
12: 115,206,417 (GRCm39) |
|
probably benign |
Het |
Inhbb |
A |
T |
1: 119,345,713 (GRCm39) |
V192D |
probably benign |
Het |
Itgal |
A |
T |
7: 126,900,152 (GRCm39) |
M137L |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,265,382 (GRCm39) |
N470D |
probably benign |
Het |
Jph1 |
T |
C |
1: 17,161,981 (GRCm39) |
E227G |
probably damaging |
Het |
Kcnj6 |
A |
T |
16: 94,633,346 (GRCm39) |
I237N |
probably damaging |
Het |
Kctd8 |
G |
T |
5: 69,498,031 (GRCm39) |
P205Q |
probably benign |
Het |
Klhdc1 |
A |
T |
12: 69,297,540 (GRCm39) |
N37I |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,281,608 (GRCm39) |
H3921L |
probably benign |
Het |
Lrp8os2 |
T |
C |
4: 107,664,245 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
A |
C |
7: 80,012,056 (GRCm39) |
D700E |
probably benign |
Het |
Mast1 |
A |
T |
8: 85,648,026 (GRCm39) |
L485Q |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,248 (GRCm39) |
D147V |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,351,124 (GRCm39) |
|
probably null |
Het |
Mup21 |
T |
G |
4: 62,066,829 (GRCm39) |
E137A |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,672,803 (GRCm39) |
V52D |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,752,742 (GRCm39) |
S340C |
probably damaging |
Het |
Neb |
A |
G |
2: 52,198,323 (GRCm39) |
Y474H |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,815,626 (GRCm39) |
E560G |
possibly damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,711 (GRCm39) |
D145G |
possibly damaging |
Het |
Nup93 |
G |
A |
8: 95,038,290 (GRCm39) |
|
probably null |
Het |
Or1j17 |
A |
G |
2: 36,578,194 (GRCm39) |
Y60C |
probably damaging |
Het |
Or2n1b |
C |
A |
17: 38,459,746 (GRCm39) |
T89K |
probably benign |
Het |
Or2y14 |
A |
T |
11: 49,404,737 (GRCm39) |
I91F |
probably damaging |
Het |
Or52b2 |
C |
T |
7: 104,986,350 (GRCm39) |
C191Y |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,465 (GRCm39) |
V40E |
possibly damaging |
Het |
Peg3 |
C |
T |
7: 6,714,415 (GRCm39) |
R269H |
probably benign |
Het |
Piwil1 |
T |
A |
5: 128,827,334 (GRCm39) |
F648I |
possibly damaging |
Het |
Psd4 |
A |
T |
2: 24,295,326 (GRCm39) |
K827* |
probably null |
Het |
Retsat |
T |
A |
6: 72,578,693 (GRCm39) |
L135* |
probably null |
Het |
Rtp3 |
A |
G |
9: 110,816,389 (GRCm39) |
|
probably benign |
Het |
Samd14 |
A |
G |
11: 94,914,176 (GRCm39) |
Y305C |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,082,319 (GRCm39) |
Q445L |
possibly damaging |
Het |
Shbg |
A |
G |
11: 69,508,035 (GRCm39) |
L110P |
probably damaging |
Het |
Slc17a6 |
T |
A |
7: 51,317,218 (GRCm39) |
I413N |
possibly damaging |
Het |
Slu7 |
A |
T |
11: 43,331,469 (GRCm39) |
Q201L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,938,638 (GRCm39) |
T439A |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,647 (GRCm39) |
L194Q |
possibly damaging |
Het |
Tjp2 |
A |
T |
19: 24,116,150 (GRCm39) |
L13Q |
probably damaging |
Het |
Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
Ttll8 |
C |
A |
15: 88,801,450 (GRCm39) |
V413L |
probably benign |
Het |
Wiz |
T |
C |
17: 32,587,109 (GRCm39) |
D67G |
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 |
|
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 |