Incidental Mutation 'R9116:Aoc1'
ID |
692530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9116 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 48885522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 676
(V676I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031835
(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: V676I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: V676I
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: ENSMUST00000162948
AA Change: V676I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: V676I
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: V676I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: V676I
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (76/76) |
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 |
Abca7 |
T |
A |
10: 79,838,973 (GRCm39) |
L689Q |
|
Het |
Abcc2 |
G |
A |
19: 43,793,391 (GRCm39) |
V348M |
probably benign |
Het |
Abhd5 |
T |
C |
9: 122,196,992 (GRCm39) |
S60P |
probably benign |
Het |
Adamts10 |
C |
A |
17: 33,756,330 (GRCm39) |
H324Q |
probably benign |
Het |
Akap1 |
A |
G |
11: 88,723,165 (GRCm39) |
L823P |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,893,241 (GRCm39) |
|
probably benign |
Het |
Arl4d |
A |
C |
11: 101,557,620 (GRCm39) |
S49R |
possibly damaging |
Het |
Atr |
A |
G |
9: 95,747,851 (GRCm39) |
I378V |
probably benign |
Het |
Bicd1 |
G |
A |
6: 149,385,674 (GRCm39) |
V136I |
probably benign |
Het |
Brd1 |
A |
T |
15: 88,585,374 (GRCm39) |
L820H |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,497,590 (GRCm39) |
T55A |
probably benign |
Het |
Cog7 |
G |
T |
7: 121,570,561 (GRCm39) |
N182K |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,431,752 (GRCm39) |
T1511S |
unknown |
Het |
Cr2 |
A |
T |
1: 194,840,977 (GRCm39) |
Y438* |
probably null |
Het |
Ctnnbl1 |
T |
A |
2: 157,648,623 (GRCm39) |
V198E |
probably damaging |
Het |
Fam117b |
C |
T |
1: 60,018,456 (GRCm39) |
Q58* |
probably null |
Het |
Fam171a2 |
A |
G |
11: 102,330,519 (GRCm39) |
Y288H |
probably damaging |
Het |
Fam186a |
A |
T |
15: 99,840,472 (GRCm39) |
I1924K |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,532,180 (GRCm39) |
I498V |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,909,421 (GRCm39) |
I2194F |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
Gbp9 |
T |
C |
5: 105,231,695 (GRCm39) |
Y297C |
|
Het |
Gck |
T |
G |
11: 5,854,377 (GRCm39) |
N283H |
possibly damaging |
Het |
Gm13941 |
A |
T |
2: 110,935,146 (GRCm39) |
L28Q |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,204,109 (GRCm39) |
I235T |
possibly damaging |
Het |
Junb |
A |
C |
8: 85,704,052 (GRCm39) |
L336R |
probably damaging |
Het |
Krt14 |
A |
T |
11: 100,095,904 (GRCm39) |
M218K |
probably benign |
Het |
Leprotl1 |
A |
G |
8: 34,604,967 (GRCm39) |
V102A |
probably benign |
Het |
Lrrc8d |
T |
C |
5: 105,961,908 (GRCm39) |
F773L |
probably damaging |
Het |
Mad2l1bp |
G |
A |
17: 46,458,958 (GRCm39) |
R191C |
probably damaging |
Het |
Man1c1 |
C |
T |
4: 134,311,705 (GRCm39) |
V274M |
possibly damaging |
Het |
Mtor |
C |
A |
4: 148,637,198 (GRCm39) |
P2466T |
probably benign |
Het |
Mycbpap |
C |
A |
11: 94,398,032 (GRCm39) |
|
probably benign |
Het |
Myef2l |
G |
A |
3: 10,153,593 (GRCm39) |
V121M |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,975,862 (GRCm39) |
E1329G |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,380,340 (GRCm39) |
D817E |
probably benign |
Het |
Nthl1 |
C |
T |
17: 24,853,753 (GRCm39) |
Q133* |
probably null |
Het |
Nup133 |
A |
G |
8: 124,660,155 (GRCm39) |
M381T |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,602 (GRCm39) |
C98R |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,654 (GRCm39) |
T233A |
probably benign |
Het |
Or51t4 |
T |
C |
7: 102,598,527 (GRCm39) |
I285T |
possibly damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,633 (GRCm39) |
Y74H |
probably damaging |
Het |
Or7g20 |
T |
C |
9: 18,946,773 (GRCm39) |
M118T |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Pmpcb |
A |
T |
5: 21,961,608 (GRCm39) |
I422F |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,380,589 (GRCm39) |
H97Q |
possibly damaging |
Het |
Psat1 |
A |
G |
19: 15,898,332 (GRCm39) |
L30P |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,820 (GRCm39) |
D774G |
probably damaging |
Het |
Rag1 |
C |
T |
2: 101,475,137 (GRCm39) |
A2T |
probably benign |
Het |
Rccd1 |
G |
T |
7: 79,970,728 (GRCm39) |
F17L |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,106,579 (GRCm39) |
D443E |
probably damaging |
Het |
Rnf13 |
A |
G |
3: 57,709,866 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
G |
13: 11,587,185 (GRCm39) |
S4699P |
possibly damaging |
Het |
Scart1 |
A |
G |
7: 139,808,277 (GRCm39) |
T754A |
probably benign |
Het |
Sdc3 |
T |
C |
4: 130,546,352 (GRCm39) |
V237A |
probably benign |
Het |
Serinc5 |
T |
A |
13: 92,797,514 (GRCm39) |
|
probably benign |
Het |
Sertad4 |
A |
G |
1: 192,528,973 (GRCm39) |
I281T |
probably benign |
Het |
Shroom1 |
T |
C |
11: 53,354,490 (GRCm39) |
S137P |
probably damaging |
Het |
Slurp1 |
C |
T |
15: 74,599,450 (GRCm39) |
G20D |
probably damaging |
Het |
Sncb |
T |
A |
13: 54,910,512 (GRCm39) |
N75Y |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,653,231 (GRCm39) |
G77S |
unknown |
Het |
Spink14 |
A |
T |
18: 44,164,059 (GRCm39) |
I76F |
probably damaging |
Het |
Srfbp1 |
A |
T |
18: 52,623,102 (GRCm39) |
E372D |
possibly damaging |
Het |
Synpo |
A |
T |
18: 60,735,599 (GRCm39) |
N782K |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,421,373 (GRCm39) |
M519T |
probably damaging |
Het |
Tlr5 |
C |
T |
1: 182,802,160 (GRCm39) |
P488L |
probably benign |
Het |
Tmod3 |
A |
T |
9: 75,412,202 (GRCm39) |
I315N |
probably damaging |
Het |
Ttc12 |
T |
C |
9: 49,364,757 (GRCm39) |
M340V |
probably benign |
Het |
Ttn |
T |
A |
2: 76,710,959 (GRCm39) |
I8392F |
unknown |
Het |
Ttn |
A |
G |
2: 76,769,232 (GRCm39) |
V2822A |
unknown |
Het |
Ube3b |
C |
T |
5: 114,542,837 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,145,785 (GRCm39) |
N238K |
|
Het |
Vmn2r12 |
T |
C |
5: 109,233,885 (GRCm39) |
T776A |
probably damaging |
Het |
Vps50 |
G |
A |
6: 3,588,091 (GRCm39) |
|
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,366,470 (GRCm39) |
D165G |
|
Het |
Wdr17 |
T |
A |
8: 55,114,605 (GRCm39) |
H644L |
probably damaging |
Het |
Zfp628 |
T |
C |
7: 4,924,202 (GRCm39) |
V808A |
probably benign |
Het |
Zscan21 |
T |
A |
5: 138,123,937 (GRCm39) |
D205E |
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 |
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 |
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'- GGGTCATGATAGATCCACCCAC -3'
(R):5'- GGTCCCATTGTAGCTAAAAGGAGG -3'
Sequencing Primer
(F):5'- CCTCTCCAATGGAACTGAGAG -3'
(R):5'- TGTTCTCAGGGATCCAGCG -3'
|
Posted On |
2021-12-30 |