Incidental Mutation 'R6964:Ambra1'
| ID |
541867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ambra1
|
| Ensembl Gene |
ENSMUSG00000040506 |
| Gene Name |
autophagy/beclin 1 regulator 1 |
| Synonyms |
2310079H06Rik, D030051N19Rik |
| MMRRC Submission |
045074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R6964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 91747761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1046
(Q1046*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045699]
[ENSMUST00000045705]
[ENSMUST00000099712]
[ENSMUST00000111316]
[ENSMUST00000111317]
|
| AlphaFold |
A2AH22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045699
AA Change: Q1046*
|
| SMART Domains |
Protein: ENSMUSP00000048898
Gene: ENSMUSG00000040506
AA Change: Q1046*
| 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 null
Transcript: ENSMUST00000045705
AA Change: Q1166*
|
| SMART Domains |
Protein: ENSMUSP00000049258
Gene: ENSMUSG00000040506
AA Change: Q1166*
| 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 null
Transcript: ENSMUST00000099712
AA Change: Q1075*
|
| SMART Domains |
Protein: ENSMUSP00000097299
Gene: ENSMUSG00000040506
AA Change: Q1075*
| 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 null
Transcript: ENSMUST00000111316
AA Change: Q1106*
|
| SMART Domains |
Protein: ENSMUSP00000106948
Gene: ENSMUSG00000040506
AA Change: Q1106*
| 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 null
Transcript: ENSMUST00000111317
AA Change: Q1046*
|
| SMART Domains |
Protein: ENSMUSP00000106949
Gene: ENSMUSG00000040506
AA Change: Q1046*
| 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: 99.4%
- 20x: 97.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,866,959 (GRCm39) |
Y334* |
probably null |
Het |
| Abcc2 |
A |
C |
19: 43,786,515 (GRCm39) |
I116L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,559,148 (GRCm39) |
Y313N |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,101 (GRCm39) |
T444A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,075,091 (GRCm39) |
I153V |
probably damaging |
Het |
| Ap1g2 |
A |
T |
14: 55,336,722 (GRCm39) |
V750D |
possibly damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,519 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
T |
1: 130,585,009 (GRCm39) |
L9Q |
probably damaging |
Het |
| Cadps2 |
A |
C |
6: 23,583,458 (GRCm39) |
V344G |
probably damaging |
Het |
| Car7 |
A |
G |
8: 105,270,213 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cep126 |
G |
C |
9: 8,112,101 (GRCm39) |
H157Q |
probably null |
Het |
| Chst11 |
C |
T |
10: 83,027,215 (GRCm39) |
T214I |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,200,317 (GRCm39) |
R526* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,493,443 (GRCm39) |
T445A |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,454,206 (GRCm39) |
V363A |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,365 (GRCm39) |
|
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,107 (GRCm39) |
Y465H |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,135,685 (GRCm39) |
A118V |
probably benign |
Het |
| Fam47e |
A |
T |
5: 92,713,911 (GRCm39) |
Q180L |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,496,982 (GRCm39) |
C4156G |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,599 (GRCm39) |
I441K |
probably damaging |
Het |
| Frmd4b |
C |
T |
6: 97,282,158 (GRCm39) |
R510Q |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,415 (GRCm39) |
A71V |
probably damaging |
Het |
| Gfap |
G |
A |
11: 102,787,783 (GRCm39) |
A54V |
possibly damaging |
Het |
| Gjc3 |
C |
T |
5: 137,955,759 (GRCm39) |
M175I |
probably benign |
Het |
| Gm10645 |
C |
T |
8: 83,892,581 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,357,040 (GRCm39) |
P464S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,221 (GRCm39) |
I2584F |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,186,067 (GRCm39) |
I534L |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,777 (GRCm39) |
D159G |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,432,132 (GRCm39) |
|
probably benign |
Het |
| Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
| Ntng2 |
T |
A |
2: 29,087,041 (GRCm39) |
Y452F |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,437,957 (GRCm39) |
L75P |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,333 (GRCm39) |
I246F |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,725 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p53 |
A |
T |
7: 107,532,966 (GRCm39) |
I80L |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pianp |
T |
A |
6: 124,976,353 (GRCm39) |
V54D |
possibly damaging |
Het |
| Ptprn |
T |
C |
1: 75,237,293 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,250,279 (GRCm39) |
V268A |
probably benign |
Het |
| Rhoj |
T |
A |
12: 75,422,163 (GRCm39) |
Y74N |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,225,697 (GRCm39) |
S235P |
probably benign |
Het |
| Snx13 |
A |
C |
12: 35,169,788 (GRCm39) |
T578P |
possibly damaging |
Het |
| Star |
T |
A |
8: 26,301,851 (GRCm39) |
H227Q |
probably benign |
Het |
| Stau2 |
A |
C |
1: 16,460,229 (GRCm39) |
M204R |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,568 (GRCm39) |
Y43C |
probably damaging |
Het |
| Syt8 |
A |
G |
7: 141,993,158 (GRCm39) |
E21G |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,535,500 (GRCm39) |
V156A |
probably damaging |
Het |
| Tmem106b |
C |
T |
6: 13,082,422 (GRCm39) |
T199M |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,835,373 (GRCm39) |
T1583A |
probably damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,593 (GRCm39) |
V87I |
probably null |
Het |
| Treml4 |
G |
T |
17: 48,579,847 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,544,457 (GRCm39) |
K32843R |
probably damaging |
Het |
| Wdr95 |
T |
G |
5: 149,505,315 (GRCm39) |
C223W |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,590 (GRCm39) |
R81Q |
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 10,967,088 (GRCm39) |
T568I |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,615,643 (GRCm39) |
I228N |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
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 |
|
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'- GGACTTCAGTTTTCACAGTGG -3'
(R):5'- AGTTGCCCAGGTTCTGATGG -3'
Sequencing Primer
(F):5'- TACAATCCCCCAGTGTCTGCTAG -3'
(R):5'- CAGGTTCTGATGGCAGTCCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation