Incidental Mutation 'IGL01086:Aen'
ID |
278166 |
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 # |
IGL01086
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
Aim2 |
A |
G |
1: 173,282,999 (GRCm39) |
Y27C |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,308,114 (GRCm39) |
E127G |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
Poteg |
T |
A |
8: 27,963,648 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
Serpina11 |
T |
A |
12: 103,952,329 (GRCm39) |
D147V |
probably damaging |
Het |
Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
Ttc13 |
A |
G |
8: 125,402,085 (GRCm39) |
I686T |
probably damaging |
Het |
Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
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 |
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 |