Incidental Mutation 'R3783:Aoc1'
| ID |
272117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
040875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48882589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 177
(L177P)
|
| 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: L155P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: L155P
| 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 damaging
Transcript: ENSMUST00000162948
AA Change: L155P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: L155P
| 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: L155P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: L155P
| 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: L177P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: L177P
| 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 |
|
| Meta Mutation Damage Score |
0.7411 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Akap6 |
A |
G |
12: 52,927,552 (GRCm39) |
H154R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,350 (GRCm39) |
T1357A |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,173,067 (GRCm39) |
V270D |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,365,598 (GRCm39) |
N77S |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,309,392 (GRCm39) |
K47R |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,135,736 (GRCm39) |
Y42H |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,815,252 (GRCm39) |
C90S |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,889,236 (GRCm38) |
W529G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gml |
C |
T |
15: 74,685,521 (GRCm39) |
V155M |
probably damaging |
Het |
| Gpr174 |
A |
G |
X: 106,336,670 (GRCm39) |
T161A |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Isy1 |
T |
C |
6: 87,798,527 (GRCm39) |
E209G |
possibly damaging |
Het |
| Kdm5b |
A |
G |
1: 134,558,280 (GRCm39) |
H1429R |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,892,754 (GRCm39) |
V834I |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,720,818 (GRCm39) |
E2310D |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Niban1 |
C |
T |
1: 151,565,399 (GRCm39) |
S243L |
possibly damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,855 (GRCm39) |
L173Q |
probably damaging |
Het |
| Pdpk1 |
T |
C |
17: 24,329,824 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,489,829 (GRCm39) |
V1692E |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,562 (GRCm39) |
D6G |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,520,628 (GRCm39) |
T91A |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,185,124 (GRCm39) |
K1182R |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,870,372 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
G |
T |
10: 80,723,301 (GRCm39) |
V254F |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
G |
7: 30,655,256 (GRCm39) |
V133A |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,200,590 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,851,338 (GRCm39) |
M153I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGTCCTGTCCGGGAAGC -3'
(R):5'- TGCTATGATCTACAAGGATCTCC -3'
Sequencing Primer
(F):5'- GAAGCCAGGGCCATCATCTTC -3'
(R):5'- TACAAGGATCTCCAGCCCTGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation