Incidental Mutation 'R7821:Aoc1'
| ID |
601863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
045875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7821 (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 A
at 48882745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 229
(I229N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031835]
[ENSMUST00000162948]
[ENSMUST00000167529]
[ENSMUST00000204856]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031835
AA Change: I207N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: I207N
| 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 damaging
Transcript: ENSMUST00000162948
AA Change: I207N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: I207N
| 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 damaging
Transcript: ENSMUST00000167529
AA Change: I207N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: I207N
| 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 damaging
Transcript: ENSMUST00000204856
AA Change: I229N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: I229N
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,120,929 (GRCm39) |
T112S |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,298,950 (GRCm39) |
S2320R |
probably benign |
Het |
| Abca7 |
TGGTGCGTGAG |
TG |
10: 79,838,424 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,932,136 (GRCm39) |
I250N |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,747 (GRCm39) |
V560A |
possibly damaging |
Het |
| C2cd6 |
A |
T |
1: 59,106,951 (GRCm39) |
Y291* |
probably null |
Het |
| Cacnb4 |
T |
C |
2: 52,324,520 (GRCm39) |
D514G |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,486 (GRCm39) |
Q81R |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,925,740 (GRCm39) |
T50A |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,741,458 (GRCm39) |
E2487G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,752,887 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,087,879 (GRCm39) |
S14N |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,414,352 (GRCm39) |
T821I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,428,633 (GRCm39) |
S138P |
possibly damaging |
Het |
| Dhrs9 |
G |
A |
2: 69,224,782 (GRCm39) |
G157R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,411,678 (GRCm39) |
D3682E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,314,443 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,403,261 (GRCm39) |
H4L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,939,113 (GRCm38) |
I2319V |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,578 (GRCm39) |
W129R |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,827,550 (GRCm39) |
P603L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,293,641 (GRCm39) |
S346P |
probably damaging |
Het |
| Galnt2 |
T |
A |
8: 125,070,134 (GRCm39) |
S550R |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,274,559 (GRCm39) |
S312P |
probably benign |
Het |
| Gpr150 |
C |
A |
13: 76,204,511 (GRCm39) |
A145S |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,867,553 (GRCm39) |
W173R |
probably damaging |
Het |
| Hoxb9 |
C |
G |
11: 96,162,537 (GRCm39) |
P57R |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,954 (GRCm39) |
Q563R |
probably benign |
Het |
| Ighv1-58 |
A |
G |
12: 115,275,796 (GRCm39) |
F114S |
possibly damaging |
Het |
| Klra9 |
T |
A |
6: 130,162,563 (GRCm39) |
I158F |
probably damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,960,210 (GRCm39) |
S207P |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,320 (GRCm39) |
E1929G |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,346,221 (GRCm39) |
M89T |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,927,208 (GRCm39) |
I20V |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,916,917 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,855 (GRCm39) |
D269G |
probably benign |
Het |
| Pfkp |
T |
A |
13: 6,647,908 (GRCm39) |
N556I |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,022,193 (GRCm39) |
S199T |
probably benign |
Het |
| Pik3r2 |
T |
A |
8: 71,222,408 (GRCm39) |
I515F |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,785,524 (GRCm39) |
I294F |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,158,303 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,300 (GRCm39) |
I812V |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,462,537 (GRCm39) |
|
probably null |
Het |
| Rsad1 |
A |
C |
11: 94,435,288 (GRCm39) |
D266E |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,088,705 (GRCm39) |
V485E |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,556,196 (GRCm39) |
Y451N |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,335,476 (GRCm39) |
I354N |
probably damaging |
Het |
| Spryd7 |
A |
T |
14: 61,783,129 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,499 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,179,601 (GRCm39) |
D214V |
probably damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,209,289 (GRCm39) |
I119V |
probably benign |
Het |
| Trim5 |
G |
A |
7: 103,927,633 (GRCm39) |
T169I |
probably benign |
Het |
| Ttc33 |
T |
C |
15: 5,241,506 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,997,431 (GRCm39) |
S1741T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,907,975 (GRCm39) |
N694S |
probably benign |
Het |
| Zfp174 |
T |
A |
16: 3,666,041 (GRCm39) |
I102N |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,960,539 (GRCm39) |
F248S |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,302,098 (GRCm39) |
C404S |
probably damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,723,000 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ATCTGTCCTGGTCATCAAGAC -3'
(R):5'- TCGAGAACCACTTCCTCCAG -3'
Sequencing Primer
(F):5'- GACCCATCTCCACAGCGG -3'
(R):5'- AGAACCACTGCCTCCACTTCTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation