Incidental Mutation 'R5153:Aoc1'
ID |
395512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
042735-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5153 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48885681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 729
(N729D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128816
(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: N729D
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: N729D
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 |
probably benign
Transcript: ENSMUST00000162948
AA Change: N729D
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: N729D
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: N729D
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: N729D
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,073 (GRCm39) |
C257S |
unknown |
Het |
4930596D02Rik |
C |
A |
14: 35,532,212 (GRCm39) |
R121L |
probably benign |
Het |
Aadacl4fm1 |
T |
A |
4: 144,248,837 (GRCm39) |
M68K |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,883,070 (GRCm39) |
V194A |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,239,950 (GRCm39) |
I298T |
possibly damaging |
Het |
Apobr |
C |
T |
7: 126,186,904 (GRCm39) |
T20I |
possibly damaging |
Het |
Arsb |
A |
G |
13: 94,077,106 (GRCm39) |
E491G |
probably benign |
Het |
AW209491 |
C |
G |
13: 14,811,764 (GRCm39) |
Q206E |
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,823,630 (GRCm39) |
N1473K |
probably damaging |
Het |
Casp8 |
A |
G |
1: 58,884,004 (GRCm39) |
Q457R |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,387,315 (GRCm39) |
A350T |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,711,521 (GRCm39) |
E183G |
probably benign |
Het |
Cep295 |
A |
T |
9: 15,268,925 (GRCm39) |
S39T |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,811,692 (GRCm39) |
I416K |
probably damaging |
Het |
Cidea |
C |
T |
18: 67,500,490 (GRCm39) |
T184M |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,442,803 (GRCm39) |
A468V |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,360 (GRCm39) |
Q98R |
probably benign |
Het |
Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
Dnah17 |
A |
T |
11: 117,973,800 (GRCm39) |
C1915* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,411,759 (GRCm39) |
T288A |
possibly damaging |
Het |
Dop1b |
T |
A |
16: 93,570,891 (GRCm39) |
M1512K |
probably damaging |
Het |
Dsp |
T |
G |
13: 38,366,282 (GRCm39) |
I572S |
probably damaging |
Het |
Eepd1 |
A |
G |
9: 25,498,049 (GRCm39) |
H378R |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,380,063 (GRCm39) |
Y349N |
possibly damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,497 (GRCm39) |
M743T |
possibly damaging |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
F2rl2 |
A |
G |
13: 95,833,620 (GRCm39) |
T17A |
probably benign |
Het |
Fbxl8 |
T |
G |
8: 105,993,739 (GRCm39) |
C32G |
probably damaging |
Het |
Fbxw17 |
A |
G |
13: 50,573,897 (GRCm39) |
T38A |
probably damaging |
Het |
Flii |
A |
T |
11: 60,607,512 (GRCm39) |
L882Q |
possibly damaging |
Het |
Focad |
T |
G |
4: 88,278,121 (GRCm39) |
S1197A |
unknown |
Het |
H1f11-ps |
A |
G |
19: 47,159,356 (GRCm39) |
V73A |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,102,536 (GRCm39) |
R1281* |
probably null |
Het |
Khdc3 |
A |
G |
9: 73,010,720 (GRCm39) |
Q190R |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,082,068 (GRCm39) |
D244V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,724 (GRCm39) |
E463G |
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,003 (GRCm39) |
V259E |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,186,806 (GRCm39) |
|
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,563,579 (GRCm39) |
E22G |
probably damaging |
Het |
Mmp23 |
T |
G |
4: 155,735,797 (GRCm39) |
D258A |
probably damaging |
Het |
Msantd2 |
C |
T |
9: 37,434,509 (GRCm39) |
R250* |
probably null |
Het |
Mynn |
T |
C |
3: 30,665,738 (GRCm39) |
S457P |
probably benign |
Het |
Nectin1 |
C |
T |
9: 43,714,795 (GRCm39) |
H50Y |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,906 (GRCm39) |
I104V |
probably benign |
Het |
Or2d3c |
C |
T |
7: 106,525,776 (GRCm39) |
V297M |
possibly damaging |
Het |
Or4a47 |
G |
A |
2: 89,665,578 (GRCm39) |
T237I |
possibly damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,026 (GRCm39) |
N93S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,629,527 (GRCm39) |
T303M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,201,094 (GRCm39) |
|
probably null |
Het |
Podnl1 |
C |
T |
8: 84,857,272 (GRCm39) |
H294Y |
probably benign |
Het |
Ppig |
T |
A |
2: 69,579,994 (GRCm39) |
D509E |
unknown |
Het |
Ppp1r16a |
T |
A |
15: 76,578,596 (GRCm39) |
Y433* |
probably null |
Het |
Prdm1 |
A |
C |
10: 44,326,221 (GRCm39) |
V134G |
possibly damaging |
Het |
Prx |
T |
C |
7: 27,217,901 (GRCm39) |
S940P |
probably damaging |
Het |
Ptprd |
C |
T |
4: 75,930,339 (GRCm39) |
V731I |
probably damaging |
Het |
Qki |
A |
G |
17: 10,457,820 (GRCm39) |
|
probably null |
Het |
Rassf6 |
T |
C |
5: 90,754,699 (GRCm39) |
K206R |
possibly damaging |
Het |
Rdh16f2 |
G |
A |
10: 127,712,124 (GRCm39) |
E194K |
possibly damaging |
Het |
Rims1 |
C |
A |
1: 22,522,328 (GRCm39) |
G457* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,197,279 (GRCm39) |
I123R |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,383,422 (GRCm39) |
S170R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,413 (GRCm39) |
F181L |
probably damaging |
Het |
Siglec1 |
A |
C |
2: 130,927,497 (GRCm39) |
V103G |
probably damaging |
Het |
Slc26a11 |
G |
T |
11: 119,268,085 (GRCm39) |
A488S |
possibly damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,841 (GRCm39) |
T97S |
probably damaging |
Het |
Son |
T |
C |
16: 91,451,910 (GRCm39) |
I219T |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,510 (GRCm39) |
I1474N |
possibly damaging |
Het |
Syt16 |
A |
T |
12: 74,269,542 (GRCm39) |
D127V |
possibly damaging |
Het |
Tet1 |
G |
T |
10: 62,714,357 (GRCm39) |
N479K |
possibly damaging |
Het |
Thsd7a |
G |
A |
6: 12,338,654 (GRCm39) |
A1192V |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Traj57 |
A |
G |
14: 54,396,016 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
G |
T |
11: 73,129,342 (GRCm39) |
R86S |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,343,673 (GRCm39) |
F434L |
possibly damaging |
Het |
Vmn2r59 |
A |
C |
7: 41,691,834 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
T |
A |
7: 85,268,430 (GRCm39) |
I211N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,422,599 (GRCm39) |
D186E |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,696,691 (GRCm39) |
S321P |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
Zc3h12c |
A |
G |
9: 52,037,947 (GRCm39) |
F278L |
probably damaging |
Het |
Zpld1 |
T |
C |
16: 55,067,007 (GRCm39) |
T183A |
probably damaging |
Het |
Zswim2 |
G |
T |
2: 83,770,010 (GRCm39) |
T68K |
possibly 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 |
|
IGL02325:Aoc1
|
APN |
6 |
48,882,829 (GRCm39) |
missense |
possibly damaging |
0.46 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTTGTCTCACCCGTAG -3'
(R):5'- TCATGGAAGTCTTTGGCAGG -3'
Sequencing Primer
(F):5'- CGTAGGATCTGGTGGCCTG -3'
(R):5'- GAGTAGAGCCAGCCCTCACATG -3'
|
Posted On |
2016-06-21 |