Incidental Mutation 'R6982:Ambra1'
| ID |
542712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
045383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R6982 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91747818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1065
(V1065I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
| AlphaFold |
A2AH22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045699
AA Change: V1065I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: V1065I
| 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: V1185I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: V1185I
| 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: V1094I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: V1094I
| 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 damaging
Transcript: ENSMUST00000111316
AA Change: V1125I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: V1125I
| 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: V1065I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: V1065I
| 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 |
|
| Meta Mutation Damage Score |
0.1826 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,916,639 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,164,271 (GRCm39) |
P362H |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,849,926 (GRCm39) |
T79A |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,969,856 (GRCm39) |
R724H |
probably benign |
Het |
| Bmp8a |
A |
G |
4: 123,218,934 (GRCm39) |
L158P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,087 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,639,359 (GRCm39) |
G308R |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,399,247 (GRCm39) |
P367S |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,499 (GRCm39) |
V371A |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,020,807 (GRCm39) |
G393* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,521,033 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,986,899 (GRCm39) |
S3183T |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,746,993 (GRCm39) |
I435N |
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,322,300 (GRCm39) |
A107D |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,343,645 (GRCm38) |
Q367K |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,335,846 (GRCm39) |
D182G |
probably damaging |
Het |
| Gpr162 |
T |
A |
6: 124,837,919 (GRCm39) |
I244F |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,282,285 (GRCm39) |
N159I |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,527 (GRCm39) |
Y7* |
probably null |
Het |
| Kdm4a |
A |
T |
4: 118,010,636 (GRCm39) |
|
probably null |
Het |
| Klf5 |
A |
G |
14: 99,550,671 (GRCm39) |
H416R |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,211 (GRCm39) |
V631A |
probably benign |
Het |
| Man1a |
T |
C |
10: 53,950,819 (GRCm39) |
E101G |
possibly damaging |
Het |
| Msantd4 |
T |
A |
9: 4,384,061 (GRCm39) |
N127K |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,256,409 (GRCm39) |
E1248D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,699 (GRCm39) |
I672N |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,634 (GRCm39) |
|
probably null |
Het |
| Nr1h3 |
A |
G |
2: 91,021,104 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,618 (GRCm39) |
I174T |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,905,349 (GRCm39) |
|
probably null |
Het |
| Pcmtd1 |
T |
G |
1: 7,217,906 (GRCm39) |
V118G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,429,664 (GRCm39) |
N3294I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,364,796 (GRCm39) |
T74A |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,442,803 (GRCm39) |
I540N |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,283,556 (GRCm39) |
T218K |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,206,589 (GRCm39) |
D173G |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,084,428 (GRCm39) |
L106P |
possibly damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,660,334 (GRCm39) |
V359M |
probably benign |
Het |
| Slc22a7 |
T |
A |
17: 46,745,563 (GRCm39) |
M323L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,824,184 (GRCm39) |
N149I |
possibly damaging |
Het |
| Spink5 |
G |
A |
18: 44,110,792 (GRCm39) |
G121D |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,143,109 (GRCm39) |
|
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,060,815 (GRCm39) |
S6G |
possibly damaging |
Het |
| Sytl2 |
T |
C |
7: 90,045,772 (GRCm39) |
S641P |
probably damaging |
Het |
| Tcf3 |
A |
T |
10: 80,253,384 (GRCm39) |
F215I |
probably damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,680 (GRCm39) |
D61Y |
probably benign |
Het |
| Ttc7 |
T |
A |
17: 87,614,437 (GRCm39) |
F201I |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,285,867 (GRCm39) |
I208V |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,917 (GRCm39) |
T167A |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,763 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,323 (GRCm39) |
Y687H |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,187,445 (GRCm39) |
F783L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,890 (GRCm39) |
Y3016C |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,248 (GRCm39) |
T586A |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGCTCAGATCAGCAAC -3'
(R):5'- GCATGGTTGGTCCCTCATTG -3'
Sequencing Primer
(F):5'- GAGGCTCAGATCAGCAACTAACTC -3'
(R):5'- TGGTCCCTCATTGCTGGCAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation