Incidental Mutation 'R7812:Ambra1'
ID |
601204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ambra1
|
Ensembl Gene |
ENSMUSG00000040506 |
Gene Name |
autophagy/beclin 1 regulator 1 |
Synonyms |
2310079H06Rik, D030051N19Rik |
MMRRC Submission |
045867-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
R7812 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 91596911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
AlphaFold |
A2AH22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045699
AA Change: M1L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048898 Gene: ENSMUSG00000040506 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000049258 Gene: ENSMUSG00000040506 AA Change: M1L
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 benign
Transcript: ENSMUST00000099712
AA Change: M1L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000097299 Gene: ENSMUSG00000040506 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000106948 Gene: ENSMUSG00000040506 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106949 Gene: ENSMUSG00000040506 AA Change: M1L
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: 99.6%
- 20x: 98.7%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
C |
A |
9: 57,165,141 (GRCm39) |
C411F |
probably damaging |
Het |
Abhd17c |
G |
T |
7: 83,800,624 (GRCm39) |
Y143* |
probably null |
Het |
Acad11 |
T |
G |
9: 103,972,747 (GRCm39) |
L480R |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,890,476 (GRCm39) |
N277K |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,342,938 (GRCm39) |
Y268C |
probably damaging |
Het |
Adm2 |
A |
T |
15: 89,208,367 (GRCm39) |
R102S |
possibly damaging |
Het |
Angpt2 |
T |
C |
8: 18,742,161 (GRCm39) |
N465S |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,879,290 (GRCm39) |
I820M |
unknown |
Het |
Atf7ip |
G |
A |
6: 136,580,415 (GRCm39) |
R1113Q |
probably damaging |
Het |
Atp5pb |
A |
G |
3: 105,851,157 (GRCm39) |
V180A |
probably benign |
Het |
Auts2 |
C |
T |
5: 131,501,284 (GRCm39) |
R43H |
|
Het |
Cacna1g |
A |
T |
11: 94,334,880 (GRCm39) |
I809N |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,053,864 (GRCm39) |
M158K |
probably benign |
Het |
Cars1 |
T |
A |
7: 143,123,784 (GRCm39) |
I500F |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,328,699 (GRCm39) |
M706K |
probably benign |
Het |
Ccdc180 |
G |
A |
4: 45,906,952 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
G |
8: 93,984,938 (GRCm39) |
V463A |
probably benign |
Het |
Cndp1 |
G |
T |
18: 84,655,994 (GRCm39) |
D58E |
probably benign |
Het |
Csnk2b |
A |
T |
17: 35,339,431 (GRCm39) |
F21Y |
probably benign |
Het |
Dgkg |
C |
G |
16: 22,385,165 (GRCm39) |
R447T |
probably damaging |
Het |
Dnajc12 |
A |
G |
10: 63,242,905 (GRCm39) |
D141G |
probably benign |
Het |
Edar |
A |
G |
10: 58,465,926 (GRCm39) |
V4A |
probably benign |
Het |
Elf1 |
A |
G |
14: 79,802,998 (GRCm39) |
D117G |
probably damaging |
Het |
Fam124b |
T |
C |
1: 80,191,351 (GRCm39) |
T11A |
probably damaging |
Het |
Fgl2 |
C |
A |
5: 21,577,896 (GRCm39) |
T61K |
probably benign |
Het |
Furin |
T |
C |
7: 80,045,722 (GRCm39) |
N218S |
possibly damaging |
Het |
Gcn1 |
T |
A |
5: 115,731,751 (GRCm39) |
H955Q |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,117,069 (GRCm39) |
I784T |
probably damaging |
Het |
Ice1 |
T |
A |
13: 70,751,124 (GRCm39) |
Q1654L |
possibly damaging |
Het |
Klhl28 |
T |
C |
12: 64,990,363 (GRCm39) |
N526S |
possibly damaging |
Het |
Ldlrad4 |
C |
A |
18: 68,239,742 (GRCm39) |
P54Q |
probably benign |
Het |
Lsm14a |
A |
G |
7: 34,088,301 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,062,115 (GRCm39) |
V438A |
probably benign |
Het |
Mrto4 |
A |
G |
4: 139,075,278 (GRCm39) |
V175A |
possibly damaging |
Het |
Nav2 |
T |
G |
7: 49,246,921 (GRCm39) |
S2149A |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,746,380 (GRCm39) |
F225L |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,290 (GRCm39) |
I231N |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,737 (GRCm39) |
M135L |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,705,894 (GRCm39) |
L147P |
possibly damaging |
Het |
Oxr1 |
T |
A |
15: 41,615,138 (GRCm39) |
M1K |
probably null |
Het |
Pbx3 |
T |
C |
2: 34,114,478 (GRCm39) |
Y152C |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,575,645 (GRCm39) |
C8S |
probably benign |
Het |
Polr1c |
G |
A |
17: 46,557,053 (GRCm39) |
R77W |
probably damaging |
Het |
Psg25 |
A |
T |
7: 18,255,093 (GRCm39) |
N474K |
possibly damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,766,413 (GRCm39) |
M838L |
possibly damaging |
Het |
Ranbp2 |
A |
G |
10: 58,303,224 (GRCm39) |
T799A |
probably benign |
Het |
Sbf2 |
C |
T |
7: 110,049,170 (GRCm39) |
V265I |
possibly damaging |
Het |
Scarf2 |
G |
A |
16: 17,621,692 (GRCm39) |
G381R |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,027,735 (GRCm39) |
Q114R |
probably benign |
Het |
Sipa1l2 |
A |
C |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
Slc26a4 |
T |
A |
12: 31,594,449 (GRCm39) |
I300F |
probably damaging |
Het |
Sox7 |
C |
T |
14: 64,185,681 (GRCm39) |
T239I |
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
G |
T |
11: 116,659,927 (GRCm39) |
H129N |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,485,654 (GRCm39) |
L231P |
probably damaging |
Het |
Syngap1 |
A |
C |
17: 27,160,478 (GRCm39) |
Y18S |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,729,335 (GRCm39) |
Y1557C |
probably benign |
Het |
Trim44 |
G |
T |
2: 102,230,489 (GRCm39) |
P181T |
possibly damaging |
Het |
Trp53i13 |
A |
T |
11: 77,399,666 (GRCm39) |
V221D |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,641,236 (GRCm39) |
S1554P |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,045,158 (GRCm39) |
N288D |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,196 (GRCm39) |
Y405* |
probably null |
Het |
Vps35 |
T |
C |
8: 86,010,818 (GRCm39) |
D175G |
probably benign |
Het |
Wdr90 |
A |
T |
17: 26,071,532 (GRCm39) |
L949Q |
probably damaging |
Het |
Wwp1 |
G |
A |
4: 19,639,991 (GRCm39) |
T517I |
probably damaging |
Het |
Zfp462 |
T |
G |
4: 55,008,509 (GRCm39) |
F158L |
probably benign |
Het |
Zfp703 |
T |
A |
8: 27,469,906 (GRCm39) |
H523Q |
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 |
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 |
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'- GAGCCTCTCTGGTGTAGAATAG -3'
(R):5'- TTAGCTATATCAAGTCTCAGGGAC -3'
Sequencing Primer
(F):5'- CTGGTGTAGAATAGGCATTATTTGAC -3'
(R):5'- CAAAGGTGCCAATTTACTGTCATCTC -3'
|
Posted On |
2019-11-26 |