Incidental Mutation 'R4511:Aoc1'
ID |
470121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
041586-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4511 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 48884740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 594
(H594Q)
|
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 damaging
Transcript: ENSMUST00000031835
AA Change: H594Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: H594Q
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: H594Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: H594Q
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: H594Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: H594Q
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 |
|
Meta Mutation Damage Score |
0.4590 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,819 (GRCm39) |
D397E |
probably benign |
Het |
Abcc10 |
A |
G |
17: 46,618,136 (GRCm39) |
F1005L |
probably damaging |
Het |
Ackr4 |
T |
C |
9: 103,975,930 (GRCm39) |
E339G |
probably benign |
Het |
Adam39 |
G |
T |
8: 41,279,328 (GRCm39) |
C573F |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,652 (GRCm39) |
T651A |
probably benign |
Het |
Atp4a |
G |
T |
7: 30,423,678 (GRCm39) |
E928* |
probably null |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,320,629 (GRCm39) |
T206A |
probably damaging |
Het |
Atrn |
G |
A |
2: 130,777,497 (GRCm39) |
W182* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,168,154 (GRCm39) |
S1530P |
possibly damaging |
Het |
Cacna1e |
G |
A |
1: 154,437,579 (GRCm39) |
T257I |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,938 (GRCm39) |
Y345C |
probably benign |
Het |
Cyp26b1 |
G |
A |
6: 84,551,473 (GRCm39) |
R248W |
probably damaging |
Het |
Dclk3 |
C |
A |
9: 111,297,060 (GRCm39) |
H201Q |
probably benign |
Het |
Ddx17 |
A |
T |
15: 79,422,793 (GRCm39) |
V315E |
probably damaging |
Het |
Dhrs11 |
T |
C |
11: 84,716,342 (GRCm39) |
*51W |
probably null |
Het |
Fgfr4 |
C |
A |
13: 55,309,328 (GRCm39) |
P455Q |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,103 (GRCm39) |
K697E |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,641 (GRCm39) |
T28I |
probably benign |
Het |
Gm12185 |
T |
A |
11: 48,799,305 (GRCm39) |
H396L |
possibly damaging |
Het |
Gm21976 |
A |
G |
13: 98,441,839 (GRCm39) |
R123G |
probably benign |
Het |
Hecw1 |
A |
C |
13: 14,531,776 (GRCm39) |
V166G |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,295 (GRCm39) |
V372A |
possibly damaging |
Het |
Igkv2-109 |
A |
G |
6: 68,279,962 (GRCm39) |
Y61C |
probably damaging |
Het |
Igsf1 |
A |
G |
X: 48,875,050 (GRCm39) |
F789S |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,175,280 (GRCm39) |
D496G |
possibly damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,511 (GRCm39) |
T547A |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,715,978 (GRCm39) |
P558T |
possibly damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Irak3 |
T |
A |
10: 119,981,813 (GRCm39) |
H393L |
probably damaging |
Het |
Isx |
G |
A |
8: 75,600,298 (GRCm39) |
M10I |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,668,870 (GRCm39) |
D709G |
probably damaging |
Het |
Kcng2 |
G |
T |
18: 80,338,930 (GRCm39) |
R453S |
probably benign |
Het |
Kif5b |
A |
G |
18: 6,214,011 (GRCm39) |
V664A |
probably benign |
Het |
Lalba |
A |
G |
15: 98,380,422 (GRCm39) |
L44P |
probably benign |
Het |
Ldlrad1 |
T |
G |
4: 107,066,715 (GRCm39) |
F17V |
probably benign |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,429,717 (GRCm39) |
Y451C |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,310,406 (GRCm39) |
N2722K |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,973,391 (GRCm39) |
V431I |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,125,016 (GRCm39) |
F866L |
possibly damaging |
Het |
Mylk2 |
A |
G |
2: 152,759,330 (GRCm39) |
E367G |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,678,794 (GRCm39) |
S865P |
probably damaging |
Het |
Nol6 |
G |
C |
4: 41,123,526 (GRCm39) |
T74R |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,637 (GRCm39) |
M2100T |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,418,841 (GRCm39) |
K667R |
possibly damaging |
Het |
Phlda3 |
A |
G |
1: 135,694,400 (GRCm39) |
T72A |
probably damaging |
Het |
Polg |
T |
C |
7: 79,105,270 (GRCm39) |
Q758R |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,757 (GRCm39) |
M243L |
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,439,762 (GRCm39) |
D355G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,382,652 (GRCm39) |
Y398H |
probably damaging |
Het |
Ripk1 |
T |
C |
13: 34,210,731 (GRCm39) |
Y309H |
probably damaging |
Het |
Rngtt |
A |
T |
4: 33,339,032 (GRCm39) |
Q279L |
possibly damaging |
Het |
Rusf1 |
A |
T |
7: 127,875,312 (GRCm39) |
F319Y |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,315,042 (GRCm39) |
V114D |
probably benign |
Het |
Sec23ip |
G |
A |
7: 128,380,900 (GRCm39) |
E956K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,684,747 (GRCm39) |
T128S |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,834,858 (GRCm39) |
I6F |
probably benign |
Het |
Slc6a19 |
A |
C |
13: 73,832,094 (GRCm39) |
L494R |
probably damaging |
Het |
Slc6a21 |
A |
G |
7: 44,936,713 (GRCm39) |
D189G |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,277,372 (GRCm39) |
A381D |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,923,980 (GRCm39) |
|
probably null |
Het |
Stk19 |
T |
C |
17: 35,051,504 (GRCm39) |
E17G |
probably damaging |
Het |
Tekt5 |
A |
C |
16: 10,175,877 (GRCm39) |
V556G |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,070 (GRCm39) |
F2029L |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,236 (GRCm39) |
V330A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,375,910 (GRCm39) |
D432G |
probably damaging |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Tnrc6c |
A |
T |
11: 117,633,784 (GRCm39) |
N1294I |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,965,381 (GRCm39) |
I1625M |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,773 (GRCm39) |
V25040E |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,633,853 (GRCm39) |
N19D |
possibly damaging |
Het |
Washc2 |
A |
T |
6: 116,197,517 (GRCm39) |
D250V |
probably damaging |
Het |
Xpo1 |
A |
G |
11: 23,237,401 (GRCm39) |
T755A |
possibly damaging |
Het |
Zfp462 |
C |
T |
4: 55,008,934 (GRCm39) |
T300I |
possibly damaging |
Het |
Zfp937 |
A |
C |
2: 150,080,431 (GRCm39) |
T154P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,778,996 (GRCm39) |
D1819G |
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 |
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 |
|
Posted On |
2017-03-07 |