Incidental Mutation 'IGL03033:Aoc1l2'
ID |
408544 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
IGL03033
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48909452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 566
(T566S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031837
AA Change: T566S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: T566S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:Cu_amine_oxidN2
|
50 |
136 |
1.7e-25 |
PFAM |
Pfam:Cu_amine_oxidN3
|
152 |
252 |
3.5e-16 |
PFAM |
Pfam:Cu_amine_oxid
|
306 |
708 |
7.1e-94 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158710
|
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 |
Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
Gm20547 |
A |
T |
17: 35,078,492 (GRCm39) |
M362K |
probably damaging |
Het |
Gucy1b2 |
A |
G |
14: 62,653,393 (GRCm39) |
V334A |
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
Sf3b3 |
T |
C |
8: 111,537,596 (GRCm39) |
I1211V |
possibly damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
Tmem198 |
A |
G |
1: 75,459,612 (GRCm39) |
D189G |
possibly damaging |
Het |
Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,382,522 (GRCm39) |
V603M |
probably benign |
Het |
|
Other mutations in Aoc1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00925:Aoc1l2
|
APN |
6 |
48,907,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Aoc1l2
|
APN |
6 |
48,909,477 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01751:Aoc1l2
|
APN |
6 |
48,907,522 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01915:Aoc1l2
|
APN |
6 |
48,908,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02669:Aoc1l2
|
APN |
6 |
48,908,407 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03242:Aoc1l2
|
APN |
6 |
48,909,479 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0096:Aoc1l2
|
UTSW |
6 |
48,908,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Aoc1l2
|
UTSW |
6 |
48,908,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0448:Aoc1l2
|
UTSW |
6 |
48,909,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R1488:Aoc1l2
|
UTSW |
6 |
48,910,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1498:Aoc1l2
|
UTSW |
6 |
48,908,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1520:Aoc1l2
|
UTSW |
6 |
48,908,231 (GRCm39) |
nonsense |
probably null |
|
R1922:Aoc1l2
|
UTSW |
6 |
48,908,220 (GRCm39) |
missense |
probably benign |
0.00 |
R1992:Aoc1l2
|
UTSW |
6 |
48,907,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Aoc1l2
|
UTSW |
6 |
48,909,363 (GRCm39) |
missense |
probably damaging |
0.98 |
R2021:Aoc1l2
|
UTSW |
6 |
48,908,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Aoc1l2
|
UTSW |
6 |
48,908,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Aoc1l2
|
UTSW |
6 |
48,908,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Aoc1l2
|
UTSW |
6 |
48,907,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R5114:Aoc1l2
|
UTSW |
6 |
48,908,292 (GRCm39) |
missense |
probably benign |
0.02 |
R5610:Aoc1l2
|
UTSW |
6 |
48,907,953 (GRCm39) |
missense |
probably benign |
0.00 |
R5823:Aoc1l2
|
UTSW |
6 |
48,907,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R5847:Aoc1l2
|
UTSW |
6 |
48,910,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6233:Aoc1l2
|
UTSW |
6 |
48,907,899 (GRCm39) |
missense |
probably benign |
|
R6357:Aoc1l2
|
UTSW |
6 |
48,907,908 (GRCm39) |
missense |
probably benign |
0.00 |
R6694:Aoc1l2
|
UTSW |
6 |
48,907,480 (GRCm39) |
missense |
probably benign |
0.21 |
R6733:Aoc1l2
|
UTSW |
6 |
48,907,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Aoc1l2
|
UTSW |
6 |
48,907,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6898:Aoc1l2
|
UTSW |
6 |
48,907,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R6916:Aoc1l2
|
UTSW |
6 |
48,907,987 (GRCm39) |
missense |
probably benign |
0.01 |
R7242:Aoc1l2
|
UTSW |
6 |
48,908,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Aoc1l2
|
UTSW |
6 |
48,909,620 (GRCm39) |
missense |
probably benign |
0.07 |
R8257:Aoc1l2
|
UTSW |
6 |
48,909,431 (GRCm39) |
missense |
probably benign |
0.04 |
R8391:Aoc1l2
|
UTSW |
6 |
48,909,602 (GRCm39) |
missense |
probably damaging |
0.96 |
R8839:Aoc1l2
|
UTSW |
6 |
48,907,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8863:Aoc1l2
|
UTSW |
6 |
48,907,042 (GRCm39) |
missense |
probably benign |
0.00 |
R9266:Aoc1l2
|
UTSW |
6 |
48,907,171 (GRCm39) |
missense |
probably benign |
0.00 |
R9274:Aoc1l2
|
UTSW |
6 |
48,907,341 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9380:Aoc1l2
|
UTSW |
6 |
48,910,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Aoc1l2
|
UTSW |
6 |
48,907,298 (GRCm39) |
missense |
probably benign |
0.08 |
R9562:Aoc1l2
|
UTSW |
6 |
48,907,909 (GRCm39) |
missense |
probably benign |
0.01 |
R9565:Aoc1l2
|
UTSW |
6 |
48,907,909 (GRCm39) |
missense |
probably benign |
0.01 |
R9703:Aoc1l2
|
UTSW |
6 |
48,909,629 (GRCm39) |
missense |
probably benign |
0.01 |
R9781:Aoc1l2
|
UTSW |
6 |
48,907,660 (GRCm39) |
missense |
possibly damaging |
0.58 |
X0062:Aoc1l2
|
UTSW |
6 |
48,910,066 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1176:Aoc1l2
|
UTSW |
6 |
48,909,402 (GRCm39) |
missense |
probably benign |
0.38 |
|
Posted On |
2016-08-02 |