Incidental Mutation 'IGL02325:Aoc1'
| ID |
288444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48882829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 235
(D235G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031835]
[ENSMUST00000162948]
[ENSMUST00000167529]
[ENSMUST00000204856]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031835
AA Change: D235G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
8.8e-26 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
4.1e-20 |
PFAM |
|
low complexity region
|
259 |
274 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxid
|
305 |
720 |
6.1e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161184
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162948
AA Change: D235G
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
8.8e-26 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
4.1e-20 |
PFAM |
|
low complexity region
|
259 |
274 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxid
|
305 |
720 |
6.1e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167529
AA Change: D235G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
2.4e-30 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
1.5e-23 |
PFAM |
|
low complexity region
|
259 |
274 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxid
|
305 |
717 |
1.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204856
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
49 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
66 |
152 |
4.3e-28 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
168 |
250 |
8.9e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
| Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
| Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,986,653 (GRCm39) |
K1111E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
| Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
| Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
G |
4: 46,396,085 (GRCm39) |
I384L |
probably benign |
Het |
| Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
| Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
| Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
| Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
| Rnf207 |
A |
T |
4: 152,396,237 (GRCm39) |
I509N |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
| Shank1 |
C |
A |
7: 43,976,504 (GRCm39) |
S534* |
probably null |
Het |
| Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
| Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,779,043 (GRCm39) |
D422G |
probably benign |
Het |
| Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
| Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
probably damaging |
Het |
|
| Other mutations in Aoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Aoc1
|
APN |
6 |
48,885,598 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01115:Aoc1
|
APN |
6 |
48,883,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Aoc1
|
APN |
6 |
48,883,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01891:Aoc1
|
APN |
6 |
48,885,776 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01908:Aoc1
|
APN |
6 |
48,883,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01919:Aoc1
|
APN |
6 |
48,885,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Aoc1
|
APN |
6 |
48,885,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02102:Aoc1
|
APN |
6 |
48,882,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02121:Aoc1
|
APN |
6 |
48,883,254 (GRCm39) |
splice site |
probably null |
|
|
IGL02229:Aoc1
|
APN |
6 |
48,882,843 (GRCm39) |
nonsense |
probably null |
|
|
IGL02626:Aoc1
|
APN |
6 |
48,883,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02737:Aoc1
|
APN |
6 |
48,884,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03244:Aoc1
|
APN |
6 |
48,882,756 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03371:Aoc1
|
APN |
6 |
48,883,380 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0100:Aoc1
|
UTSW |
6 |
48,885,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0835:Aoc1
|
UTSW |
6 |
48,882,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Aoc1
|
UTSW |
6 |
48,882,549 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1400:Aoc1
|
UTSW |
6 |
48,883,645 (GRCm39) |
missense |
probably benign |
|
|
R1400:Aoc1
|
UTSW |
6 |
48,883,217 (GRCm39) |
nonsense |
probably null |
|
|
R1443:Aoc1
|
UTSW |
6 |
48,882,379 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1447:Aoc1
|
UTSW |
6 |
48,883,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1572:Aoc1
|
UTSW |
6 |
48,882,720 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1850:Aoc1
|
UTSW |
6 |
48,882,202 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2008:Aoc1
|
UTSW |
6 |
48,882,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Aoc1
|
UTSW |
6 |
48,883,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3429:Aoc1
|
UTSW |
6 |
48,883,010 (GRCm39) |
missense |
probably benign |
|
|
R3430:Aoc1
|
UTSW |
6 |
48,883,010 (GRCm39) |
missense |
probably benign |
|
|
R3432:Aoc1
|
UTSW |
6 |
48,882,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Aoc1
|
UTSW |
6 |
48,882,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3786:Aoc1
|
UTSW |
6 |
48,882,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Aoc1
|
UTSW |
6 |
48,882,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Aoc1
|
UTSW |
6 |
48,885,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Aoc1
|
UTSW |
6 |
48,885,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4455:Aoc1
|
UTSW |
6 |
48,882,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4510:Aoc1
|
UTSW |
6 |
48,884,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4511:Aoc1
|
UTSW |
6 |
48,884,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4525:Aoc1
|
UTSW |
6 |
48,883,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Aoc1
|
UTSW |
6 |
48,883,010 (GRCm39) |
missense |
probably benign |
|
|
R4876:Aoc1
|
UTSW |
6 |
48,883,681 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5150:Aoc1
|
UTSW |
6 |
48,883,084 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5153:Aoc1
|
UTSW |
6 |
48,885,681 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5437:Aoc1
|
UTSW |
6 |
48,884,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6000:Aoc1
|
UTSW |
6 |
48,884,573 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6112:Aoc1
|
UTSW |
6 |
48,885,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Aoc1
|
UTSW |
6 |
48,885,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Aoc1
|
UTSW |
6 |
48,883,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6703:Aoc1
|
UTSW |
6 |
48,882,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6748:Aoc1
|
UTSW |
6 |
48,883,228 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6765:Aoc1
|
UTSW |
6 |
48,882,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6935:Aoc1
|
UTSW |
6 |
48,885,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Aoc1
|
UTSW |
6 |
48,882,810 (GRCm39) |
missense |
probably benign |
|
|
R7066:Aoc1
|
UTSW |
6 |
48,885,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Aoc1
|
UTSW |
6 |
48,883,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Aoc1
|
UTSW |
6 |
48,882,750 (GRCm39) |
nonsense |
probably null |
|
|
R7362:Aoc1
|
UTSW |
6 |
48,882,345 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7452:Aoc1
|
UTSW |
6 |
48,885,724 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7618:Aoc1
|
UTSW |
6 |
48,883,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7773:Aoc1
|
UTSW |
6 |
48,883,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7821:Aoc1
|
UTSW |
6 |
48,882,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Aoc1
|
UTSW |
6 |
48,882,584 (GRCm39) |
nonsense |
probably null |
|
|
R8010:Aoc1
|
UTSW |
6 |
48,882,582 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8517:Aoc1
|
UTSW |
6 |
48,883,644 (GRCm39) |
nonsense |
probably null |
|
|
R8774:Aoc1
|
UTSW |
6 |
48,885,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Aoc1
|
UTSW |
6 |
48,885,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Aoc1
|
UTSW |
6 |
48,882,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9116:Aoc1
|
UTSW |
6 |
48,885,522 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9283:Aoc1
|
UTSW |
6 |
48,882,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9371:Aoc1
|
UTSW |
6 |
48,883,102 (GRCm39) |
missense |
probably benign |
|
|
R9570:Aoc1
|
UTSW |
6 |
48,882,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Aoc1
|
UTSW |
6 |
48,885,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation