Incidental Mutation 'R2224:Aen'
| ID |
241546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
2700083B06Rik, Isg20l1 |
| MMRRC Submission |
040225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R2224 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78545675-78560957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78552199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 15
(T15K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107421]
[ENSMUST00000107423]
[ENSMUST00000107425]
[ENSMUST00000138167]
[ENSMUST00000205861]
[ENSMUST00000205882]
|
| AlphaFold |
Q9CZI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107421
AA Change: T15K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: T15K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
EXOIII
|
70 |
236 |
2.04e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107423
AA Change: T53K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: T53K
| 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 benign
Transcript: ENSMUST00000107425
AA Change: T53K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: T53K
| 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
AA Change: T15K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609
AA Change: T15K
| 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 |
noncoding transcript
Transcript: ENSMUST00000172017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206661
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,289,932 (GRCm39) |
L1416R |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,990,355 (GRCm39) |
|
probably benign |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,679 (GRCm39) |
F216I |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,658 (GRCm39) |
Q702* |
probably null |
Het |
| Btbd9 |
C |
A |
17: 30,746,320 (GRCm39) |
A169S |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,833,737 (GRCm39) |
E1886D |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,913 (GRCm39) |
H1515P |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,724,026 (GRCm39) |
C213R |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,679,214 (GRCm39) |
T544I |
probably damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,874 (GRCm39) |
V637D |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,714,254 (GRCm39) |
|
probably null |
Het |
| Fbxo21 |
T |
G |
5: 118,146,188 (GRCm39) |
Y597D |
probably damaging |
Het |
| Fbxw20 |
G |
C |
9: 109,062,650 (GRCm39) |
Q59E |
possibly damaging |
Het |
| Fpr3 |
T |
A |
17: 18,191,455 (GRCm39) |
V242D |
probably damaging |
Het |
| Fyb1 |
A |
G |
15: 6,681,864 (GRCm39) |
Y737C |
probably damaging |
Het |
| Gm17661 |
GG |
GGG |
2: 90,748,052 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17f |
A |
G |
1: 20,849,599 (GRCm39) |
V55A |
probably damaging |
Het |
| Inpp1 |
T |
A |
1: 52,829,290 (GRCm39) |
E243V |
probably benign |
Het |
| Leap2 |
A |
G |
11: 53,313,634 (GRCm39) |
L46P |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,937,883 (GRCm39) |
D339E |
probably benign |
Het |
| Met |
A |
G |
6: 17,563,721 (GRCm39) |
|
probably null |
Het |
| Mgam |
G |
T |
6: 40,741,208 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
G |
7: 46,984,854 (GRCm39) |
V275A |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,608 (GRCm39) |
Q70L |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Mup18 |
G |
T |
4: 61,590,128 (GRCm39) |
F133L |
possibly damaging |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,108,004 (GRCm39) |
I196N |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,597,336 (GRCm39) |
I13V |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,876,059 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a67 |
A |
T |
2: 88,597,930 (GRCm39) |
M243K |
possibly damaging |
Het |
| Or5m12 |
T |
A |
2: 85,735,099 (GRCm39) |
I100F |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,086,257 (GRCm39) |
I286V |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,201,172 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,438,854 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Sirt2 |
A |
G |
7: 28,471,637 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tsbp1 |
C |
A |
17: 34,667,737 (GRCm39) |
|
probably null |
Het |
| Uqcrc2 |
T |
A |
7: 120,240,937 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
| Zbtb4 |
C |
T |
11: 69,667,184 (GRCm39) |
T163I |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCACACTGCCCCATTG -3'
(R):5'- TCAATGGCCACACACTTGATG -3'
Sequencing Primer
(F):5'- AGACAGCCTCCAGAGCTGTTC -3'
(R):5'- ACACACTTGATGGGCCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation