Incidental Mutation 'R7452:Aoc1'
| ID |
577802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
045526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 48885724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 743
(V743G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031835
(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: V743G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: V743G
| 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: ENSMUST00000162948
AA Change: V743G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: V743G
| 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: V743G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: V743G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,618,291 (GRCm39) |
Q195K |
probably damaging |
Het |
| Abcg4 |
C |
T |
9: 44,190,897 (GRCm39) |
G249R |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,230,376 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,674,869 (GRCm39) |
T432S |
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,506 (GRCm39) |
T347A |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,050,735 (GRCm39) |
D432G |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,734,881 (GRCm39) |
T797A |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,833,892 (GRCm39) |
S858R |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,480,438 (GRCm39) |
V162G |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,140,814 (GRCm39) |
D588G |
possibly damaging |
Het |
| Art3 |
A |
G |
5: 92,540,539 (GRCm39) |
Y94C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,946,527 (GRCm39) |
D444E |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,282,075 (GRCm39) |
H111R |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,717,596 (GRCm39) |
L469P |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,406 (GRCm39) |
E802V |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,452,981 (GRCm39) |
D574G |
probably damaging |
Het |
| Chd7 |
A |
C |
4: 8,854,731 (GRCm39) |
D2024A |
probably benign |
Het |
| Corin |
T |
A |
5: 72,592,590 (GRCm39) |
D269V |
possibly damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,795 (GRCm39) |
I359F |
probably damaging |
Het |
| Defb6 |
T |
C |
8: 19,275,540 (GRCm39) |
L7P |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,196 (GRCm39) |
M1817L |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,866,664 (GRCm39) |
F682S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,065,052 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Enpp2 |
T |
C |
15: 54,730,132 (GRCm39) |
N462S |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,107 (GRCm39) |
|
probably null |
Het |
| F7 |
C |
T |
8: 13,085,215 (GRCm39) |
H414Y |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,347,375 (GRCm39) |
H50R |
possibly damaging |
Het |
| Fig4 |
T |
C |
10: 41,116,633 (GRCm39) |
D586G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,181,331 (GRCm39) |
L2825P |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,800,240 (GRCm39) |
H30Q |
possibly damaging |
Het |
| Garre1 |
A |
G |
7: 33,945,096 (GRCm39) |
S595P |
probably benign |
Het |
| Gm12886 |
G |
A |
4: 121,274,671 (GRCm39) |
Q70* |
probably null |
Het |
| Gm8104 |
A |
C |
14: 42,967,501 (GRCm39) |
T190P |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,592 (GRCm39) |
N749K |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,808,926 (GRCm39) |
T1101A |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,423,074 (GRCm39) |
S210T |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,901,615 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
A |
G |
7: 80,410,577 (GRCm39) |
V212A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,243,607 (GRCm39) |
E448G |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,686 (GRCm39) |
C1221R |
probably damaging |
Het |
| Lrrc72 |
T |
C |
12: 36,262,692 (GRCm39) |
Y52C |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,030 (GRCm39) |
I3617T |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,379,705 (GRCm39) |
H98Q |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,384,733 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,517,056 (GRCm39) |
I458L |
probably benign |
Het |
| Nfam1 |
T |
A |
15: 82,899,163 (GRCm39) |
M128L |
probably benign |
Het |
| Or2y13 |
C |
A |
11: 49,415,208 (GRCm39) |
H219Q |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,266 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5p75-ps1 |
C |
T |
7: 108,107,800 (GRCm39) |
T179I |
unknown |
Het |
| Or8b50 |
A |
T |
9: 38,518,384 (GRCm39) |
I208F |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,023,466 (GRCm39) |
G7D |
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,966,758 (GRCm39) |
Y564H |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,058,467 (GRCm39) |
V262I |
probably benign |
Het |
| Poli |
A |
G |
18: 70,642,049 (GRCm39) |
V717A |
possibly damaging |
Het |
| Prdm14 |
A |
T |
1: 13,195,783 (GRCm39) |
W93R |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,428 (GRCm39) |
M396V |
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,248,587 (GRCm39) |
V212A |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skp2 |
T |
A |
15: 9,113,920 (GRCm39) |
Q366L |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,269,034 (GRCm39) |
S312T |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,142 (GRCm39) |
L255P |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,155,585 (GRCm39) |
E458G |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,797,461 (GRCm39) |
D311V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,630,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,731,792 (GRCm39) |
I47F |
|
Het |
| Trp53bp2 |
C |
T |
1: 182,274,133 (GRCm39) |
Q95* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,707,487 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,040,397 (GRCm39) |
S1626P |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,474,180 (GRCm39) |
R33G |
probably benign |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
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 |
|
|
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 |
|
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 |
|
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'- AGAGGATGTCCCCAACACAG -3'
(R):5'- CCTTTGCATTGGTCATGGAAGTC -3'
Sequencing Primer
(F):5'- GCCACACCTGGAAATTGTG -3'
(R):5'- GAGTAGAGCCAGCCCTCACATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation