Incidental Mutation 'IGL03365:Aoc1l3'
| ID |
420038 |
| 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 # |
IGL03365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48965531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 513
(D513G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
| AlphaFold |
Q6WIZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037696
AA Change: D513G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: D513G
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
G |
5: 25,202,809 (GRCm39) |
|
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,765 (GRCm39) |
I46N |
possibly damaging |
Het |
| Adipor1 |
A |
G |
1: 134,359,380 (GRCm39) |
D371G |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,633,851 (GRCm39) |
P307S |
probably benign |
Het |
| Asxl1 |
T |
A |
2: 153,243,674 (GRCm39) |
I1408N |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,852 (GRCm39) |
V472A |
probably damaging |
Het |
| Bpifa6 |
C |
A |
2: 153,831,204 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,248,225 (GRCm39) |
V380L |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,721,649 (GRCm39) |
S1111A |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,663 (GRCm39) |
|
probably null |
Het |
| Dock8 |
C |
T |
19: 25,077,048 (GRCm39) |
P506L |
possibly damaging |
Het |
| Ecsit |
A |
C |
9: 21,987,822 (GRCm39) |
H72Q |
probably damaging |
Het |
| Eif1b |
T |
A |
9: 120,323,186 (GRCm39) |
D15E |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,544,923 (GRCm39) |
Y319H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,765 (GRCm39) |
N2746D |
probably damaging |
Het |
| Fgf20 |
G |
T |
8: 40,732,932 (GRCm39) |
L115I |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,138,230 (GRCm39) |
R775W |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,188,158 (GRCm39) |
Y245N |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,735,917 (GRCm39) |
S672T |
probably benign |
Het |
| Morf4l2 |
A |
G |
X: 135,634,464 (GRCm39) |
Y255H |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,978,262 (GRCm39) |
V343A |
possibly damaging |
Het |
| Mybphl |
T |
A |
3: 108,272,314 (GRCm39) |
M1K |
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Ofd1 |
C |
A |
X: 165,175,512 (GRCm39) |
V951F |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,772 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or51r1 |
G |
T |
7: 102,227,836 (GRCm39) |
V45F |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,108 (GRCm39) |
V202D |
possibly damaging |
Het |
| Parp12 |
G |
A |
6: 39,079,581 (GRCm39) |
R310W |
probably damaging |
Het |
| Pcdh11x |
T |
A |
X: 119,425,935 (GRCm39) |
D1019E |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,110,993 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,030,581 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
T |
A |
2: 104,617,344 (GRCm39) |
N1156I |
probably damaging |
Het |
| Rgs3 |
T |
A |
4: 62,607,912 (GRCm39) |
D59E |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,339,937 (GRCm39) |
F917S |
probably damaging |
Het |
| Sap30bp |
G |
A |
11: 115,855,078 (GRCm39) |
V263M |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,682 (GRCm39) |
V691E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,596 (GRCm39) |
H229N |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,436,349 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Stam |
T |
A |
2: 14,151,201 (GRCm39) |
Y519* |
probably null |
Het |
| Synj2 |
A |
G |
17: 6,069,679 (GRCm39) |
T602A |
probably damaging |
Het |
| Tas2r126 |
C |
T |
6: 42,412,391 (GRCm39) |
A308V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,745,948 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
G |
A |
7: 67,312,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,229 (GRCm39) |
I290V |
probably damaging |
Het |
| Xirp1 |
A |
C |
9: 119,847,605 (GRCm39) |
L426W |
probably damaging |
Het |
| Zgrf1 |
T |
G |
3: 127,392,423 (GRCm39) |
F430L |
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 |
|
IGL03213:Aoc1l3
|
APN |
6 |
48,965,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03249:Aoc1l3
|
APN |
6 |
48,965,303 (GRCm39) |
missense |
probably benign |
|
|
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