Incidental Mutation 'IGL01134:Aen'
| ID |
278205 |
| 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: 0.078)
|
| Stock # |
IGL01134
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
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 |
|
IGL01067: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 |
|
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