Incidental Mutation 'R0173:Ambra1'
| ID |
23695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
038445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R0173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 91640564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
| 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
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
| 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 |
noncoding transcript
Transcript: ENSMUST00000124132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156496
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.1%
|
| Validation Efficiency |
96% (64/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
G |
A |
8: 100,148,286 (GRCm39) |
|
noncoding transcript |
Het |
| Akt1s1 |
C |
T |
7: 44,502,284 (GRCm39) |
P95S |
possibly damaging |
Het |
| Aunip |
T |
A |
4: 134,250,861 (GRCm39) |
W269R |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,136,125 (GRCm39) |
M69V |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,783,314 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,965,744 (GRCm39) |
M2074T |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,351,928 (GRCm39) |
P1592S |
probably damaging |
Het |
| Csgalnact1 |
G |
A |
8: 68,913,681 (GRCm39) |
R175C |
probably damaging |
Het |
| Dtx1 |
A |
G |
5: 120,820,818 (GRCm39) |
|
probably benign |
Het |
| Elmod3 |
T |
C |
6: 72,554,571 (GRCm39) |
D154G |
probably damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,789 (GRCm39) |
D103G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,765,710 (GRCm39) |
D377G |
probably damaging |
Het |
| Gramd1c |
C |
T |
16: 43,818,196 (GRCm39) |
R328K |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,074,806 (GRCm39) |
S312P |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,328,343 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
C |
3: 40,629,776 (GRCm39) |
|
probably null |
Het |
| Lnpk |
T |
C |
2: 74,381,409 (GRCm39) |
K118R |
probably damaging |
Het |
| Lzts3 |
A |
C |
2: 130,476,688 (GRCm39) |
*587G |
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,896,855 (GRCm39) |
|
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp23 |
G |
T |
4: 155,735,222 (GRCm39) |
R374S |
possibly damaging |
Het |
| Morc3 |
G |
A |
16: 93,629,094 (GRCm39) |
|
probably null |
Het |
| Mymk |
C |
T |
2: 26,952,262 (GRCm39) |
A161T |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,133,859 (GRCm39) |
S3375G |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,745 (GRCm39) |
D255G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,852,400 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
| Nus1 |
A |
G |
10: 52,294,094 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or5b118 |
A |
T |
19: 13,449,065 (GRCm39) |
I244F |
probably benign |
Het |
| Or7g17 |
A |
G |
9: 18,768,325 (GRCm39) |
I135V |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,785,542 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
T |
A |
17: 15,764,275 (GRCm39) |
D835V |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,764,297 (GRCm39) |
W828R |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,582,969 (GRCm39) |
S244P |
probably benign |
Het |
| Psmd4 |
A |
T |
3: 94,940,234 (GRCm39) |
L159H |
probably damaging |
Het |
| Qprt |
C |
T |
7: 126,707,543 (GRCm39) |
G215E |
probably damaging |
Het |
| Rab3gap2 |
C |
A |
1: 184,982,104 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,652,411 (GRCm39) |
D300G |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,001,605 (GRCm39) |
N894K |
probably benign |
Het |
| Rgma |
C |
T |
7: 73,067,302 (GRCm39) |
R280W |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rundc3a |
T |
A |
11: 102,289,071 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,318,075 (GRCm39) |
D496E |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,363,437 (GRCm39) |
Y936C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,159,564 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,194,705 (GRCm39) |
D154N |
probably benign |
Het |
| Slc48a1 |
A |
T |
15: 97,688,555 (GRCm39) |
H131L |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,048,848 (GRCm39) |
N311D |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Srrm2 |
C |
A |
17: 24,034,103 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
A |
T |
4: 33,226,117 (GRCm39) |
S122C |
probably damaging |
Het |
| Suclg2 |
G |
C |
6: 95,452,154 (GRCm39) |
|
probably benign |
Het |
| Tbpl1 |
A |
T |
10: 22,583,523 (GRCm39) |
L149* |
probably null |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,782,363 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,847 (GRCm39) |
R645* |
probably null |
Het |
| Ubqln4 |
T |
A |
3: 88,462,686 (GRCm39) |
D50E |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,919 (GRCm39) |
S1227P |
probably damaging |
Het |
| Vipas39 |
A |
G |
12: 87,297,285 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps26b |
G |
A |
9: 26,924,101 (GRCm39) |
T214I |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,717 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACCTCCTGGCGAGTTCAATG -3'
(R):5'- AAAGGCTCTGGCGAATCGGCAATG -3'
Sequencing Primer
(F):5'- TATATCCAGAGCTGTATCAGCAGAG -3'
(R):5'- GCGAATCGGCAATGTAACTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation