Incidental Mutation 'IGL01068:Aen'
| ID |
278142 |
| 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 # |
IGL01068
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
| Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
| Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
| Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
| Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
| Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
| Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
| Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
| P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
| Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
| Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
| Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
| Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
| Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
| Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
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 |
|
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