Incidental Mutation 'R7002:Aoc1'
ID |
544593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
045107-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7002 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48882810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 229
(S229G)
|
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: S229G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: S229G
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: ENSMUST00000162948
AA Change: S229G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: S229G
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: S229G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: S229G
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 |
silent
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (73/73) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,874,831 (GRCm39) |
D759V |
probably damaging |
Het |
Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,058,346 (GRCm39) |
N408K |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
Duox1 |
C |
T |
2: 122,150,358 (GRCm39) |
Q196* |
probably null |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,265,981 (GRCm39) |
Y745C |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,560,381 (GRCm39) |
Y486F |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
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 |
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 |
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'- TGCTGAACAGAGCCATCAC -3'
(R):5'- TGACTGGCGTGTGGAATTCC -3'
Sequencing Primer
(F):5'- AGAGCCATCACGCCTCTG -3'
(R):5'- CCCGGGGCTTGTAGGAAGAG -3'
|
Posted On |
2019-05-13 |