Incidental Mutation 'IGL01067:Aen'
| ID |
278140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
2700083B06Rik, Isg20l1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78545675-78560957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78557050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 299
(M299I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107421]
[ENSMUST00000107423]
[ENSMUST00000107425]
[ENSMUST00000138167]
[ENSMUST00000205861]
[ENSMUST00000205882]
|
| AlphaFold |
Q9CZI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107421
AA Change: M261I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: M261I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
EXOIII
|
70 |
236 |
2.04e-42 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107423
AA Change: M299I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: M299I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
EXOIII
|
108 |
274 |
2.04e-42 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107425
AA Change: M299I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: M299I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
EXOIII
|
108 |
274 |
2.04e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138167
|
| SMART Domains |
Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
Pfam:RNase_T
|
72 |
138 |
1.9e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205861
AA Change: M157I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206661
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
| Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
| Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
| Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
| Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
| Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
| Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
| Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
| Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
| Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
| Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
| Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
| Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
| Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
| Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
| Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Aen |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01062:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01065:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01068:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01069:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01070:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01086:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01089:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01126:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01128:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01133:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01134:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01147:Aen
|
APN |
7 |
78,557,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1433:Aen
|
UTSW |
7 |
78,557,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Aen
|
UTSW |
7 |
78,552,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Aen
|
UTSW |
7 |
78,555,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Aen
|
UTSW |
7 |
78,557,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1887:Aen
|
UTSW |
7 |
78,557,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1918:Aen
|
UTSW |
7 |
78,555,777 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1919:Aen
|
UTSW |
7 |
78,555,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Aen
|
UTSW |
7 |
78,552,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Aen
|
UTSW |
7 |
78,555,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2224:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2225:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2226:Aen
|
UTSW |
7 |
78,552,199 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2244:Aen
|
UTSW |
7 |
78,557,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Aen
|
UTSW |
7 |
78,555,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Aen
|
UTSW |
7 |
78,552,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5634:Aen
|
UTSW |
7 |
78,552,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5834:Aen
|
UTSW |
7 |
78,557,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Aen
|
UTSW |
7 |
78,556,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Aen
|
UTSW |
7 |
78,552,387 (GRCm39) |
splice site |
probably null |
|
|
R6255:Aen
|
UTSW |
7 |
78,555,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Aen
|
UTSW |
7 |
78,557,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7303:Aen
|
UTSW |
7 |
78,552,204 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8207:Aen
|
UTSW |
7 |
78,552,491 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8476:Aen
|
UTSW |
7 |
78,556,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Aen
|
UTSW |
7 |
78,552,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Aen
|
UTSW |
7 |
78,552,514 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation