Incidental Mutation 'R6130:Aen'
| ID |
487089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aen
|
| Ensembl Gene |
ENSMUSG00000030609 |
| Gene Name |
apoptosis enhancing nuclease |
| Synonyms |
2700083B06Rik, Isg20l1 |
| MMRRC Submission |
044277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
78545675-78560957 bp(+) (GRCm39) |
| Type of Mutation |
splice site (248 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 78552387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146246
(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: M78L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: M78L
| 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: M116L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: M116L
| 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: M116L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: M116L
| 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 damaging
Transcript: ENSMUST00000138167
AA Change: M78L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609
AA Change: M78L
| 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 damaging
Transcript: ENSMUST00000205861
AA Change: M21L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206661
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205882
|
| Meta Mutation Damage Score |
0.6808 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abi3 |
T |
A |
11: 95,727,921 (GRCm39) |
E90V |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,575,864 (GRCm39) |
V4834G |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,454,980 (GRCm39) |
D26G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,152,131 (GRCm39) |
E160G |
possibly damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,061 (GRCm39) |
H528R |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,641,948 (GRCm39) |
T742A |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,895,341 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
T |
C |
1: 60,951,650 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,183,566 (GRCm39) |
L935P |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,165,477 (GRCm39) |
T543S |
probably benign |
Het |
| Dnai3 |
A |
C |
3: 145,748,559 (GRCm39) |
Y852D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,683,902 (GRCm39) |
R420* |
probably null |
Het |
| Flg |
A |
G |
3: 93,200,023 (GRCm39) |
|
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,897 (GRCm39) |
I31F |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
A |
9: 78,149,847 (GRCm39) |
F220Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,395,891 (GRCm39) |
|
probably null |
Het |
| Igf2bp1 |
A |
C |
11: 95,864,846 (GRCm39) |
L201R |
probably damaging |
Het |
| Jph3 |
G |
A |
8: 122,479,826 (GRCm39) |
R168H |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,964,623 (GRCm39) |
I1318F |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,523 (GRCm39) |
N717S |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,622,569 (GRCm39) |
S450C |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,501,994 (GRCm39) |
V6535A |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,489,882 (GRCm39) |
T18A |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,598 (GRCm39) |
K22E |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,968,771 (GRCm39) |
S2534A |
possibly damaging |
Het |
| Or1j21 |
A |
T |
2: 36,684,055 (GRCm39) |
D269V |
probably benign |
Het |
| Or2ak5 |
A |
G |
11: 58,611,133 (GRCm39) |
V247A |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,580 (GRCm39) |
N545K |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,455,128 (GRCm39) |
P233L |
probably benign |
Het |
| Scap |
A |
G |
9: 110,209,447 (GRCm39) |
T707A |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,565 (GRCm39) |
Q669R |
probably benign |
Het |
| Scin |
T |
C |
12: 40,119,435 (GRCm39) |
D531G |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,953,626 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,155 (GRCm39) |
S657G |
probably benign |
Het |
| Stil |
T |
A |
4: 114,887,058 (GRCm39) |
|
probably null |
Het |
| Syna |
T |
A |
5: 134,587,122 (GRCm39) |
Q609L |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,255 (GRCm39) |
S271P |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,676 (GRCm39) |
E522G |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,219 (GRCm39) |
A149T |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,498 (GRCm39) |
L156H |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,309 (GRCm39) |
R714G |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,460 (GRCm39) |
Q206L |
possibly 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 |
|
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 |
|
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'- AGCCTGAATACCAAGGATGTGG -3'
(R):5'- GGATAGCCTTGTGCATGTGC -3'
Sequencing Primer
(F):5'- CAAGGCCTTGCTTCAGGAG -3'
(R):5'- CCTTGTGCATGTGCTGGCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation