Incidental Mutation 'R5961:Aen'
| ID |
471828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
2700083B06Rik, Isg20l1 |
| MMRRC Submission |
043247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5961 (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 G
at 78556907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 252
(H252D)
|
| 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: H214D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: H214D
| 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: H252D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: H252D
| 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: H252D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: H252D
| 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 |
probably damaging
Transcript: ENSMUST00000205861
AA Change: H110D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206661
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,338 (GRCm39) |
L203P |
probably damaging |
Het |
| Alkbh6 |
T |
A |
7: 30,013,617 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
C |
17: 74,953,596 (GRCm39) |
V3286A |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,596,246 (GRCm39) |
M1925T |
probably benign |
Het |
| Caprin2 |
A |
C |
6: 148,765,038 (GRCm39) |
S554R |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,708,993 (GRCm39) |
S1280P |
probably damaging |
Het |
| Cfap57 |
T |
C |
4: 118,428,942 (GRCm39) |
E1008G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,120,366 (GRCm39) |
I1813T |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,321,974 (GRCm39) |
F3782S |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,016,527 (GRCm39) |
T64A |
possibly damaging |
Het |
| Dvl3 |
T |
G |
16: 20,349,729 (GRCm39) |
S567R |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,363,706 (GRCm39) |
S738R |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,288,555 (GRCm39) |
W1879R |
probably damaging |
Het |
| Fam83a |
T |
A |
15: 57,872,992 (GRCm39) |
F274I |
possibly damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,736 (GRCm39) |
|
probably null |
Het |
| Ido2 |
C |
T |
8: 25,023,786 (GRCm39) |
V351M |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,435,440 (GRCm39) |
E469G |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,070,724 (GRCm39) |
S403P |
probably benign |
Het |
| Klhl2 |
C |
T |
8: 65,202,818 (GRCm39) |
R460H |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,368 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Mlec |
A |
T |
5: 115,288,159 (GRCm39) |
C205* |
probably null |
Het |
| Mlx |
T |
C |
11: 100,980,053 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,181,421 (GRCm39) |
H83R |
probably damaging |
Het |
| Mmp16 |
T |
C |
4: 17,853,842 (GRCm39) |
F41S |
probably benign |
Het |
| Mroh6 |
G |
A |
15: 75,759,617 (GRCm39) |
Q187* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,272,518 (GRCm39) |
E1437V |
probably damaging |
Het |
| Nrxn1 |
A |
C |
17: 90,762,371 (GRCm39) |
L37R |
probably damaging |
Het |
| Or6c209 |
T |
C |
10: 129,483,723 (GRCm39) |
M242T |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,322,859 (GRCm39) |
R48S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,215,595 (GRCm39) |
Y128H |
possibly damaging |
Het |
| Prtg |
T |
C |
9: 72,764,228 (GRCm39) |
V567A |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,676,124 (GRCm39) |
T26A |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,039,083 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,104,543 (GRCm39) |
I115L |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,937,609 (GRCm39) |
V3833M |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,228,724 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,652,523 (GRCm39) |
S47P |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 75,939,316 (GRCm39) |
Y696H |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,000,997 (GRCm39) |
I23T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,346 (GRCm39) |
Y725C |
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 |
|
|
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 |
|
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'- CACTGTGAGCTGGGAACAAG -3'
(R):5'- AATCCTACCCCGTGACTAGG -3'
Sequencing Primer
(F):5'- GCCCACAGCACACAGAC -3'
(R):5'- CGTGACTAGGGAGGAGCACTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation