Incidental Mutation 'R0835:Aoc1'
| ID |
77814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
039014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48882448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 130
(F130S)
|
| 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: F108S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: F108S
| 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: F108S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: F108S
| 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: F108S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: F108S
| 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: F130S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: F130S
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 90.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
T |
6: 146,855,036 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,065,007 (GRCm39) |
T555A |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,919,862 (GRCm39) |
D1048V |
probably damaging |
Het |
| Abcf2 |
G |
T |
5: 24,779,251 (GRCm39) |
T99N |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,763,980 (GRCm39) |
S2119C |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,106,637 (GRCm39) |
C292Y |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,176,837 (GRCm39) |
F1489S |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,983,818 (GRCm39) |
V573A |
possibly damaging |
Het |
| Bbs2 |
A |
T |
8: 94,801,887 (GRCm39) |
I554N |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,517 (GRCm39) |
H76R |
probably benign |
Het |
| Cdc14a |
G |
T |
3: 116,122,171 (GRCm39) |
N216K |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,130,224 (GRCm39) |
Y69C |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,763,553 (GRCm39) |
R514S |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,662,191 (GRCm39) |
Y390F |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,369,599 (GRCm39) |
V437A |
possibly damaging |
Het |
| Coro2b |
T |
C |
9: 62,333,119 (GRCm39) |
N422S |
possibly damaging |
Het |
| Coro7 |
T |
C |
16: 4,450,118 (GRCm39) |
E577G |
probably benign |
Het |
| Crh |
G |
A |
3: 19,748,528 (GRCm39) |
P38L |
probably benign |
Het |
| Ctif |
T |
A |
18: 75,568,407 (GRCm39) |
D577V |
probably damaging |
Het |
| Deup1 |
T |
A |
9: 15,511,047 (GRCm39) |
Q244L |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,192,581 (GRCm39) |
E171G |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,316 (GRCm39) |
L508F |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,116,642 (GRCm39) |
|
probably null |
Het |
| E2f4 |
C |
T |
8: 106,027,140 (GRCm39) |
Q235* |
probably null |
Het |
| Eif2b3 |
A |
G |
4: 116,916,002 (GRCm39) |
H203R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,534,101 (GRCm39) |
W77R |
probably damaging |
Het |
| Gpx6 |
C |
T |
13: 21,501,238 (GRCm39) |
P109S |
probably damaging |
Het |
| Gsdmc4 |
A |
T |
15: 63,765,649 (GRCm39) |
V300E |
probably damaging |
Het |
| Gspt1 |
A |
C |
16: 11,056,802 (GRCm39) |
S198A |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,494 (GRCm39) |
N6S |
probably benign |
Het |
| Itpk1 |
C |
T |
12: 102,641,707 (GRCm39) |
V39M |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,961,811 (GRCm39) |
P232Q |
probably damaging |
Het |
| Lamtor4 |
C |
A |
5: 138,257,320 (GRCm39) |
T74K |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,822,665 (GRCm39) |
F492I |
probably benign |
Het |
| Mroh1 |
G |
T |
15: 76,336,083 (GRCm39) |
V1486F |
probably damaging |
Het |
| Myg1 |
G |
A |
15: 102,240,537 (GRCm39) |
V76M |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,322,766 (GRCm39) |
Q65H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,838,790 (GRCm39) |
E487G |
probably damaging |
Het |
| Ncoa5 |
T |
C |
2: 164,844,714 (GRCm39) |
E332G |
probably damaging |
Het |
| Nek6 |
T |
A |
2: 38,459,643 (GRCm39) |
I162N |
possibly damaging |
Het |
| Nwd2 |
C |
A |
5: 63,957,473 (GRCm39) |
R268S |
probably damaging |
Het |
| Or4c11 |
T |
C |
2: 88,695,345 (GRCm39) |
V132A |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,272 (GRCm39) |
I214V |
probably benign |
Het |
| Palm3 |
T |
G |
8: 84,754,776 (GRCm39) |
S141A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,536 (GRCm39) |
F728L |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,869,632 (GRCm39) |
V472A |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,514,576 (GRCm39) |
L35* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,152,785 (GRCm39) |
E309K |
possibly damaging |
Het |
| Ptpn6 |
T |
A |
6: 124,704,499 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
T |
C |
9: 89,882,824 (GRCm39) |
V882A |
probably benign |
Het |
| Ryr3 |
T |
G |
2: 112,480,483 (GRCm39) |
E4335D |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,835,958 (GRCm39) |
I892N |
probably damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,831,318 (GRCm39) |
M369I |
probably benign |
Het |
| Sox10 |
A |
T |
15: 79,040,641 (GRCm39) |
Y300N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,352,318 (GRCm39) |
F79L |
probably benign |
Het |
| Sult1b1 |
T |
A |
5: 87,665,311 (GRCm39) |
I208L |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,105,737 (GRCm39) |
N460S |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,149,410 (GRCm39) |
N339I |
possibly damaging |
Het |
| Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,105 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
G |
T |
5: 136,086,185 (GRCm39) |
R40S |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,912,824 (GRCm39) |
I25T |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,177,583 (GRCm39) |
Y474H |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,712,246 (GRCm39) |
|
probably null |
Het |
| Wdr36 |
A |
T |
18: 32,982,135 (GRCm39) |
N371I |
possibly damaging |
Het |
| Wnt7b |
A |
G |
15: 85,421,978 (GRCm39) |
F228S |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Zan |
T |
G |
5: 137,406,659 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,559 (GRCm39) |
D578G |
possibly damaging |
Het |
| Zfyve19 |
T |
A |
2: 119,041,266 (GRCm39) |
S61T |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,575,866 (GRCm39) |
D405G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGCTGGAGTCATCCAAGAATC -3'
(R):5'- CGGCGCTACATCCGTAAAAGTCAAG -3'
Sequencing Primer
(F):5'- CATCCAAGAATCTGACTTTGGC -3'
(R):5'- CTAGGAATGAGAAGCCAGTAGTGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation