Incidental Mutation 'IGL01069:Aen'
ID |
278145 |
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 # |
IGL01069
|
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 |
noncoding transcript
Transcript: ENSMUST00000206661
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205882
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
Gadl1 |
T |
C |
9: 115,783,907 (GRCm39) |
|
probably null |
Het |
Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
Rhbdf2 |
T |
C |
11: 116,492,577 (GRCm39) |
D437G |
possibly damaging |
Het |
Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
C |
T |
9: 45,854,375 (GRCm39) |
V616I |
possibly damaging |
Het |
Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,428,604 (GRCm39) |
E390G |
probably damaging |
Het |
Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
Tob1 |
T |
C |
11: 94,104,881 (GRCm39) |
F139S |
probably damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
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 |
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 |
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 |