Incidental Mutation 'IGL03213:Aoc1l3'
| ID |
413383 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aoc1l3
|
| Ensembl Gene |
ENSMUSG00000039215 |
| Gene Name |
amine oxidase copper containing 1-like 3 |
| Synonyms |
SVS I, Svs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48965279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
| AlphaFold |
Q6WIZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037696
AA Change: D429G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.5e-24 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.7e-16 |
PFAM |
|
internal_repeat_1
|
286 |
342 |
7.28e-22 |
PROSPERO |
|
Pfam:Cu_amine_oxid
|
408 |
811 |
2e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203494
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
| Atg13 |
G |
A |
2: 91,515,512 (GRCm39) |
H227Y |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
| Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
| Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
| Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
| Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,341,527 (GRCm39) |
V504E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
| Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,597,983 (GRCm39) |
S238P |
possibly damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
| Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,385 (GRCm39) |
Y110C |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
| Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
| Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
| Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
A |
G |
15: 76,796,177 (GRCm39) |
V161A |
possibly damaging |
Het |
|
| Other mutations in Aoc1l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Aoc1l3
|
APN |
6 |
48,964,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01876:Aoc1l3
|
APN |
6 |
48,966,970 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01934:Aoc1l3
|
APN |
6 |
48,965,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03002:Aoc1l3
|
APN |
6 |
48,964,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03059:Aoc1l3
|
APN |
6 |
48,964,349 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03249:Aoc1l3
|
APN |
6 |
48,965,303 (GRCm39) |
missense |
probably benign |
|
|
IGL03365:Aoc1l3
|
APN |
6 |
48,965,531 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4280001:Aoc1l3
|
UTSW |
6 |
48,964,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4495001:Aoc1l3
|
UTSW |
6 |
48,964,710 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0010:Aoc1l3
|
UTSW |
6 |
48,965,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0528:Aoc1l3
|
UTSW |
6 |
48,964,965 (GRCm39) |
missense |
probably benign |
|
|
R0784:Aoc1l3
|
UTSW |
6 |
48,964,235 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0959:Aoc1l3
|
UTSW |
6 |
48,965,566 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1173:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Aoc1l3
|
UTSW |
6 |
48,967,007 (GRCm39) |
nonsense |
probably null |
|
|
R3115:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3116:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3808:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3809:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3852:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4455:Aoc1l3
|
UTSW |
6 |
48,964,394 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4898:Aoc1l3
|
UTSW |
6 |
48,964,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4933:Aoc1l3
|
UTSW |
6 |
48,964,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Aoc1l3
|
UTSW |
6 |
48,965,504 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5320:Aoc1l3
|
UTSW |
6 |
48,964,509 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6053:Aoc1l3
|
UTSW |
6 |
48,965,422 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6728:Aoc1l3
|
UTSW |
6 |
48,965,779 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6922:Aoc1l3
|
UTSW |
6 |
48,964,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7045:Aoc1l3
|
UTSW |
6 |
48,965,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7046:Aoc1l3
|
UTSW |
6 |
48,964,512 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7137:Aoc1l3
|
UTSW |
6 |
48,967,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
|
R7874:Aoc1l3
|
UTSW |
6 |
48,965,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7993:Aoc1l3
|
UTSW |
6 |
48,964,542 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8238:Aoc1l3
|
UTSW |
6 |
48,966,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8807:Aoc1l3
|
UTSW |
6 |
48,965,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9036:Aoc1l3
|
UTSW |
6 |
48,965,074 (GRCm39) |
small deletion |
probably benign |
|
|
R9070:Aoc1l3
|
UTSW |
6 |
48,965,329 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9350:Aoc1l3
|
UTSW |
6 |
48,965,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Aoc1l3
|
UTSW |
6 |
48,965,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
|
X0022:Aoc1l3
|
UTSW |
6 |
48,965,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation