Incidental Mutation 'R1447:Aoc1'
| ID |
160695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
039502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48883176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 351
(V351I)
|
| 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: V351I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: V351I
| 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: V351I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: V351I
| 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: V351I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: V351I
| 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: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 84.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,447 (GRCm39) |
D603V |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,984,446 (GRCm39) |
E1910V |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,467,038 (GRCm39) |
V704A |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,509,691 (GRCm39) |
V892E |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,734,924 (GRCm39) |
V412A |
possibly damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,477 (GRCm39) |
I906N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,019,735 (GRCm39) |
L2048P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,457 (GRCm39) |
V304A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,969,854 (GRCm39) |
D1176G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,952,735 (GRCm39) |
G66R |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,456,243 (GRCm39) |
E360G |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 15,975,306 (GRCm39) |
G2968* |
probably null |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,530 (GRCm39) |
F473L |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,566 (GRCm39) |
K142E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,028,855 (GRCm39) |
M625K |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,999,308 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,803,441 (GRCm39) |
K38* |
probably null |
Het |
| Enpp2 |
C |
T |
15: 54,782,994 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
A |
G |
7: 4,477,055 (GRCm39) |
E508G |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,625 (GRCm39) |
D497E |
possibly damaging |
Het |
| Fam181b |
C |
T |
7: 92,729,368 (GRCm39) |
A47V |
probably damaging |
Het |
| Fubp3 |
T |
C |
2: 31,490,559 (GRCm39) |
V221A |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,187,788 (GRCm39) |
V191A |
possibly damaging |
Het |
| Haus5 |
G |
T |
7: 30,361,216 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,249,798 (GRCm39) |
L2247P |
probably damaging |
Het |
| Lama5 |
A |
C |
2: 179,827,671 (GRCm39) |
I2197S |
probably damaging |
Het |
| Mapre3 |
C |
T |
5: 31,019,151 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
C |
A |
4: 116,169,210 (GRCm39) |
M733I |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,030,698 (GRCm39) |
F514I |
probably damaging |
Het |
| Mterf3 |
A |
G |
13: 67,065,103 (GRCm39) |
L266P |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,192,120 (GRCm39) |
D1114G |
probably benign |
Het |
| Or1ak2 |
T |
G |
2: 36,827,788 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or1e21 |
A |
G |
11: 73,344,700 (GRCm39) |
F113L |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,938,232 (GRCm39) |
E119* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,385,003 (GRCm39) |
R636Q |
probably benign |
Het |
| Plaat3 |
G |
A |
19: 7,556,598 (GRCm39) |
R133H |
probably benign |
Het |
| Rida |
T |
A |
15: 34,488,757 (GRCm39) |
Q45L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 51,974,954 (GRCm39) |
T1544A |
possibly damaging |
Het |
| Rpl7 |
T |
A |
1: 16,172,821 (GRCm39) |
Y166F |
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,544,084 (GRCm39) |
I338T |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,300,324 (GRCm39) |
N1347K |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,739 (GRCm39) |
D238G |
probably benign |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,736 (GRCm39) |
I173N |
probably benign |
Het |
| Smarcc2 |
T |
C |
10: 128,305,660 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,670,070 (GRCm39) |
S1531P |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,496 (GRCm39) |
N567D |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,239,878 (GRCm39) |
P62Q |
unknown |
Het |
| Tmprss7 |
T |
C |
16: 45,501,033 (GRCm39) |
Q256R |
probably benign |
Het |
| Tssc4 |
A |
G |
7: 142,623,892 (GRCm39) |
T67A |
probably benign |
Het |
| Tssk5 |
G |
A |
15: 76,256,304 (GRCm39) |
Q372* |
probably null |
Het |
| Usp47 |
G |
T |
7: 111,673,775 (GRCm39) |
|
probably null |
Het |
| Utp15 |
A |
G |
13: 98,389,386 (GRCm39) |
I304T |
possibly damaging |
Het |
| Vmn1r35 |
A |
C |
6: 66,655,890 (GRCm39) |
V93G |
probably benign |
Het |
| Zfhx3 |
A |
C |
8: 109,675,076 (GRCm39) |
Q2042P |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,758,061 (GRCm39) |
R665S |
probably damaging |
Het |
| Zfp976 |
G |
T |
7: 42,262,023 (GRCm39) |
P605T |
possibly damaging |
Het |
| Zfpl1 |
A |
G |
19: 6,132,649 (GRCm39) |
V125A |
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 |
|
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'- TTCCACACGCCAGTCACTGTTG -3'
(R):5'- TCAAACCCGCATAGAAGTTGAAGCC -3'
Sequencing Primer
(F):5'- AGTCACTGTTGCAGGCCC -3'
(R):5'- GGGCCATCGCTGTCATAATAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation