Incidental Mutation 'IGL01070:Aen'
| ID |
278148 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
Isg20l1, 2700083B06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78895854-78911209 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78907302 bp (GRCm38)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,484,579 (GRCm38) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,061,997 (GRCm38) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,783,952 (GRCm38) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,869,848 (GRCm38) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,312,268 (GRCm38) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Aen |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01062:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01065:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01067:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01068:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01069:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01086:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01089:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01126:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01128:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01133:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01134:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01147:Aen
|
APN |
7 |
78,907,302 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1433:Aen
|
UTSW |
7 |
78,907,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1543:Aen
|
UTSW |
7 |
78,902,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1615:Aen
|
UTSW |
7 |
78,905,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1886:Aen
|
UTSW |
7 |
78,907,325 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1887:Aen
|
UTSW |
7 |
78,907,325 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1918:Aen
|
UTSW |
7 |
78,906,029 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1919:Aen
|
UTSW |
7 |
78,905,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1946:Aen
|
UTSW |
7 |
78,902,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2192:Aen
|
UTSW |
7 |
78,906,045 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2224:Aen
|
UTSW |
7 |
78,902,451 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2225:Aen
|
UTSW |
7 |
78,902,451 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2226:Aen
|
UTSW |
7 |
78,902,451 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2244:Aen
|
UTSW |
7 |
78,907,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2516:Aen
|
UTSW |
7 |
78,905,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Aen
|
UTSW |
7 |
78,902,361 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5634:Aen
|
UTSW |
7 |
78,902,507 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5834:Aen
|
UTSW |
7 |
78,907,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5961:Aen
|
UTSW |
7 |
78,907,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6130:Aen
|
UTSW |
7 |
78,902,639 (GRCm38) |
splice site |
probably null |
|
|
R6255:Aen
|
UTSW |
7 |
78,905,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6400:Aen
|
UTSW |
7 |
78,907,394 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7303:Aen
|
UTSW |
7 |
78,902,456 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8207:Aen
|
UTSW |
7 |
78,902,743 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8476:Aen
|
UTSW |
7 |
78,907,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9230:Aen
|
UTSW |
7 |
78,902,359 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Aen
|
UTSW |
7 |
78,902,766 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation