Incidental Mutation 'IGL02319:Ambra1'
ID |
288169 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ambra1
|
Ensembl Gene |
ENSMUSG00000040506 |
Gene Name |
autophagy/beclin 1 regulator 1 |
Synonyms |
2310079H06Rik, D030051N19Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
IGL02319
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91560479-91749194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91717265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 854
(H854R)
|
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: H854R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048898 Gene: ENSMUSG00000040506 AA Change: H854R
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: H974R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000049258 Gene: ENSMUSG00000040506 AA Change: H974R
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: H883R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097299 Gene: ENSMUSG00000040506 AA Change: H883R
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 |
possibly damaging
Transcript: ENSMUST00000111316
AA Change: H914R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106948 Gene: ENSMUSG00000040506 AA Change: H914R
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: H854R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106949 Gene: ENSMUSG00000040506 AA Change: H854R
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly 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 |
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 |
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 |
|
Posted On |
2015-04-16 |