Incidental Mutation 'IGL02083:Aoc1l1'
| ID |
283423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48953194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 373
(G373D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090063
AA Change: G373D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: G373D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.8e-26 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.5e-16 |
PFAM |
|
Pfam:Cu_amine_oxid
|
298 |
708 |
1.3e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184852
|
| SMART Domains |
Protein: ENSMUSP00000139236
Gene: ENSMUSG00000068536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu_amine_oxid
|
15 |
212 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184917
AA Change: G373D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: G373D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.1e-21 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
3.1e-14 |
PFAM |
|
Pfam:Cu_amine_oxid
|
298 |
711 |
1.4e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204745
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
C |
11: 69,780,336 (GRCm39) |
L36V |
possibly damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,166,524 (GRCm39) |
T540A |
possibly damaging |
Het |
| Bend5 |
A |
C |
4: 111,316,964 (GRCm39) |
I376L |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,380,736 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,986,975 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap44 |
T |
C |
16: 44,257,525 (GRCm39) |
V1020A |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,816 (GRCm39) |
S749T |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,652,692 (GRCm39) |
D755V |
probably damaging |
Het |
| Fmo6 |
T |
A |
1: 162,748,033 (GRCm39) |
K344* |
probably null |
Het |
| Gabbr1 |
A |
G |
17: 37,380,957 (GRCm39) |
T767A |
possibly damaging |
Het |
| Gjd3 |
A |
G |
11: 98,873,587 (GRCm39) |
S86P |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,188,513 (GRCm39) |
V432A |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,912,079 (GRCm39) |
C1849* |
probably null |
Het |
| Jcad |
G |
T |
18: 4,680,266 (GRCm39) |
|
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,630,808 (GRCm39) |
C264* |
probably null |
Het |
| Naa80 |
G |
T |
9: 107,460,798 (GRCm39) |
R231L |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,881,065 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,963,117 (GRCm39) |
E474G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,271,451 (GRCm39) |
D3034V |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,758,587 (GRCm39) |
T370A |
possibly damaging |
Het |
| Ptger4 |
C |
T |
15: 5,272,655 (GRCm39) |
R13H |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,941 (GRCm39) |
T261S |
probably benign |
Het |
| Sfswap |
T |
C |
5: 129,616,855 (GRCm39) |
V433A |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,086,686 (GRCm39) |
Y635H |
probably damaging |
Het |
| Sp5 |
C |
A |
2: 70,306,758 (GRCm39) |
P148T |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,449 (GRCm39) |
N251S |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,227,861 (GRCm39) |
N95K |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,813,745 (GRCm39) |
T384M |
probably damaging |
Het |
| Unc5c |
T |
C |
3: 141,420,408 (GRCm39) |
L117P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,684 (GRCm39) |
N57D |
probably damaging |
Het |
| Zcchc8 |
G |
T |
5: 123,838,981 (GRCm39) |
T519K |
probably damaging |
Het |
| Zfp729b |
G |
A |
13: 67,743,349 (GRCm39) |
T72I |
probably benign |
Het |
|
| Other mutations in Aoc1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Aoc1l1
|
APN |
6 |
48,955,065 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00985:Aoc1l1
|
APN |
6 |
48,954,481 (GRCm39) |
missense |
probably benign |
|
|
IGL01556:Aoc1l1
|
APN |
6 |
48,952,618 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02135:Aoc1l1
|
APN |
6 |
48,952,498 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02744:Aoc1l1
|
APN |
6 |
48,952,249 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03005:Aoc1l1
|
APN |
6 |
48,953,480 (GRCm39) |
nonsense |
probably null |
|
|
R0306:Aoc1l1
|
UTSW |
6 |
48,953,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Aoc1l1
|
UTSW |
6 |
48,952,773 (GRCm39) |
missense |
probably benign |
|
|
R0598:Aoc1l1
|
UTSW |
6 |
48,952,471 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0948:Aoc1l1
|
UTSW |
6 |
48,953,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1432:Aoc1l1
|
UTSW |
6 |
48,952,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Aoc1l1
|
UTSW |
6 |
48,952,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Aoc1l1
|
UTSW |
6 |
48,952,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1625:Aoc1l1
|
UTSW |
6 |
48,952,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Aoc1l1
|
UTSW |
6 |
48,952,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1960:Aoc1l1
|
UTSW |
6 |
48,952,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Aoc1l1
|
UTSW |
6 |
48,952,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Aoc1l1
|
UTSW |
6 |
48,954,689 (GRCm39) |
nonsense |
probably null |
|
|
R2086:Aoc1l1
|
UTSW |
6 |
48,954,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Aoc1l1
|
UTSW |
6 |
48,952,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2145:Aoc1l1
|
UTSW |
6 |
48,953,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Aoc1l1
|
UTSW |
6 |
48,953,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Aoc1l1
|
UTSW |
6 |
48,952,891 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2973:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2974:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3125:Aoc1l1
|
UTSW |
6 |
48,952,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Aoc1l1
|
UTSW |
6 |
48,953,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Aoc1l1
|
UTSW |
6 |
48,953,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Aoc1l1
|
UTSW |
6 |
48,955,101 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4575:Aoc1l1
|
UTSW |
6 |
48,954,502 (GRCm39) |
nonsense |
probably null |
|
|
R4611:Aoc1l1
|
UTSW |
6 |
48,952,090 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4823:Aoc1l1
|
UTSW |
6 |
48,952,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Aoc1l1
|
UTSW |
6 |
48,952,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Aoc1l1
|
UTSW |
6 |
48,952,728 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5698:Aoc1l1
|
UTSW |
6 |
48,953,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5765:Aoc1l1
|
UTSW |
6 |
48,955,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Aoc1l1
|
UTSW |
6 |
48,953,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6061:Aoc1l1
|
UTSW |
6 |
48,953,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6268:Aoc1l1
|
UTSW |
6 |
48,954,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6564:Aoc1l1
|
UTSW |
6 |
48,954,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6640:Aoc1l1
|
UTSW |
6 |
48,954,605 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7131:Aoc1l1
|
UTSW |
6 |
48,953,306 (GRCm39) |
nonsense |
probably null |
|
|
R8678:Aoc1l1
|
UTSW |
6 |
48,953,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8932:Aoc1l1
|
UTSW |
6 |
48,952,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Aoc1l1
|
UTSW |
6 |
48,952,890 (GRCm39) |
missense |
probably benign |
|
|
R9280:Aoc1l1
|
UTSW |
6 |
48,955,116 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9386:Aoc1l1
|
UTSW |
6 |
48,952,324 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9492:Aoc1l1
|
UTSW |
6 |
48,955,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9630:Aoc1l1
|
UTSW |
6 |
48,952,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9654:Aoc1l1
|
UTSW |
6 |
48,952,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Aoc1l1
|
UTSW |
6 |
48,954,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2015-04-16 |
Incidental Mutation