Incidental Mutation 'R6868:Ambra1'
ID |
536003 |
Institutional Source |
Beutler Lab
|
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 # |
R6868 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91747878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1205
(S1205P)
|
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: S1085P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048898 Gene: ENSMUSG00000040506 AA Change: S1085P
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: S1205P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049258 Gene: ENSMUSG00000040506 AA Change: S1205P
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: S1114P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097299 Gene: ENSMUSG00000040506 AA Change: S1114P
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: S1145P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106948 Gene: ENSMUSG00000040506 AA Change: S1145P
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: S1085P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106949 Gene: ENSMUSG00000040506 AA Change: S1085P
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: 98.0%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
A |
T |
16: 14,436,559 (GRCm39) |
N204I |
probably damaging |
Het |
Aasdh |
C |
T |
5: 77,039,527 (GRCm39) |
V261M |
probably damaging |
Het |
Adgrg7 |
A |
G |
16: 56,593,839 (GRCm39) |
F126L |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,373,855 (GRCm39) |
L87P |
probably damaging |
Het |
Alcam |
G |
A |
16: 52,088,748 (GRCm39) |
S554F |
probably damaging |
Het |
Bst2 |
A |
C |
8: 71,987,404 (GRCm39) |
V150G |
unknown |
Het |
C3 |
T |
C |
17: 57,511,029 (GRCm39) |
Y1659C |
possibly damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cdk4 |
T |
C |
10: 126,900,870 (GRCm39) |
V174A |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,745,055 (GRCm39) |
N396K |
probably benign |
Het |
Cfap144 |
C |
T |
11: 58,683,732 (GRCm39) |
D113N |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,811,501 (GRCm39) |
|
probably null |
Het |
Cnih4 |
A |
G |
1: 180,993,762 (GRCm39) |
I76V |
probably null |
Het |
Csmd2 |
G |
A |
4: 128,336,633 (GRCm39) |
V1404I |
probably benign |
Het |
Ctrb1 |
T |
C |
8: 112,416,035 (GRCm39) |
D53G |
probably benign |
Het |
Cul9 |
C |
A |
17: 46,833,109 (GRCm39) |
R1323L |
possibly damaging |
Het |
Dchs1 |
A |
G |
7: 105,412,710 (GRCm39) |
V1230A |
possibly damaging |
Het |
Dgat2 |
T |
C |
7: 98,807,513 (GRCm39) |
D219G |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
Dock9 |
G |
T |
14: 121,823,676 (GRCm39) |
A1412E |
probably benign |
Het |
Dscam |
C |
T |
16: 96,631,140 (GRCm39) |
V292M |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,830,237 (GRCm39) |
V1509E |
probably benign |
Het |
Fryl |
T |
C |
5: 73,226,146 (GRCm39) |
Q1839R |
probably damaging |
Het |
Gcat |
A |
G |
15: 78,919,566 (GRCm39) |
D177G |
probably damaging |
Het |
Gss |
T |
C |
2: 155,409,732 (GRCm39) |
T235A |
possibly damaging |
Het |
Ints10 |
T |
A |
8: 69,250,450 (GRCm39) |
M114K |
probably damaging |
Het |
Ints5 |
T |
G |
19: 8,874,750 (GRCm39) |
L903R |
probably damaging |
Het |
Lipo2 |
G |
T |
19: 33,725,862 (GRCm39) |
P130Q |
possibly damaging |
Het |
Megf11 |
G |
A |
9: 64,587,591 (GRCm39) |
C494Y |
probably damaging |
Het |
Milr1 |
T |
C |
11: 106,654,747 (GRCm39) |
Y162H |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,219,244 (GRCm39) |
I278N |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
Myh15 |
G |
A |
16: 48,889,766 (GRCm39) |
C119Y |
probably damaging |
Het |
Nap1l1 |
G |
A |
10: 111,330,669 (GRCm39) |
G358D |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,529,027 (GRCm39) |
I2178V |
possibly damaging |
Het |
Nkx2-5 |
T |
C |
17: 27,060,268 (GRCm39) |
E21G |
probably damaging |
Het |
Nos2 |
C |
T |
11: 78,848,332 (GRCm39) |
R967C |
probably benign |
Het |
Or6c215 |
T |
C |
10: 129,638,037 (GRCm39) |
D119G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,127,306 (GRCm39) |
R44G |
probably damaging |
Het |
Pced1b |
A |
G |
15: 97,282,222 (GRCm39) |
H87R |
probably damaging |
Het |
Ppfia3 |
T |
A |
7: 45,003,036 (GRCm39) |
L524F |
probably damaging |
Het |
Ppp1r12b |
T |
C |
1: 134,814,176 (GRCm39) |
T376A |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,557,111 (GRCm39) |
L449P |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,472,320 (GRCm39) |
R198G |
probably damaging |
Het |
Pth2r |
C |
A |
1: 65,427,638 (GRCm39) |
A437E |
probably benign |
Het |
Ptprh |
A |
T |
7: 4,604,864 (GRCm39) |
I60N |
probably benign |
Het |
Pxmp2 |
C |
T |
5: 110,433,846 (GRCm39) |
R9Q |
probably damaging |
Het |
Scarb2 |
T |
C |
5: 92,633,168 (GRCm39) |
K55E |
probably benign |
Het |
Slc18b1 |
T |
C |
10: 23,680,132 (GRCm39) |
V109A |
possibly damaging |
Het |
Slx4ip |
T |
A |
2: 136,842,130 (GRCm39) |
D18E |
probably damaging |
Het |
Stk40 |
A |
G |
4: 126,017,607 (GRCm39) |
R45G |
probably damaging |
Het |
Tbxas1 |
A |
T |
6: 39,061,240 (GRCm39) |
Q513L |
probably damaging |
Het |
Tcf4 |
A |
T |
18: 69,790,721 (GRCm39) |
|
probably null |
Het |
Tmc6 |
T |
A |
11: 117,665,143 (GRCm39) |
I377F |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,868,938 (GRCm39) |
I146V |
probably damaging |
Het |
Trac |
T |
A |
14: 54,458,049 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,679,334 (GRCm39) |
D409G |
probably damaging |
Het |
Usp39 |
A |
T |
6: 72,314,734 (GRCm39) |
V224E |
possibly damaging |
Het |
Vmn1r184 |
A |
C |
7: 25,966,727 (GRCm39) |
M158L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,852,218 (GRCm39) |
I33L |
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 |
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'- GCTCAGAATATGGTGGCAGTGG -3'
(R):5'- CACATTGCAGTGCATGGTTG -3'
Sequencing Primer
(F):5'- TGGCAGTGGGGAAGATGCC -3'
(R):5'- TGGTCCCTCATTGCTGGCAAG -3'
|
Posted On |
2018-10-18 |