Incidental Mutation 'R1850:Aoc1'
| ID |
207997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
039874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48882202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 48
(S48F)
|
| 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 benign
Transcript: ENSMUST00000031835
AA Change: S26F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: S26F
| 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: S26F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: S26F
| 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: S26F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: S26F
| 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
AA Change: S48F
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: S48F
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
A |
14: 68,876,644 (GRCm39) |
Q202L |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,318,246 (GRCm39) |
V199F |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,981,773 (GRCm39) |
R645S |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,646,855 (GRCm39) |
N339K |
probably damaging |
Het |
| Bpifb3 |
C |
G |
2: 153,771,264 (GRCm39) |
S392C |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,366,826 (GRCm39) |
M130V |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,753,954 (GRCm39) |
N350Y |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,457,091 (GRCm39) |
R453C |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,098,619 (GRCm39) |
N1532K |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,454,990 (GRCm39) |
L824P |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,426,058 (GRCm39) |
R1306H |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,873,670 (GRCm39) |
F1146S |
probably damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,001,448 (GRCm39) |
T3854A |
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,220,599 (GRCm39) |
I252F |
probably damaging |
Het |
| Emc1 |
A |
T |
4: 139,086,684 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,172,377 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,814,933 (GRCm39) |
N3555K |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,070,403 (GRCm39) |
T20S |
probably benign |
Het |
| Igf1 |
A |
C |
10: 87,697,236 (GRCm39) |
T2P |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,392 (GRCm39) |
M101L |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,675,730 (GRCm39) |
T1164N |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,796,293 (GRCm39) |
S2830T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,620 (GRCm39) |
A66E |
possibly damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,206 (GRCm39) |
M315L |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,807,163 (GRCm39) |
T479A |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,244,052 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,110 (GRCm39) |
N237D |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,490,683 (GRCm39) |
I462M |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,232 (GRCm39) |
I442V |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,055 (GRCm39) |
A47T |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,124 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Otogl |
T |
A |
10: 107,713,925 (GRCm39) |
Y498F |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,066,832 (GRCm39) |
F351I |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,710,854 (GRCm39) |
T154A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,005,025 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,072,432 (GRCm39) |
I718V |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,427,941 (GRCm39) |
Y143N |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,360,377 (GRCm39) |
I12V |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,804,411 (GRCm39) |
Q246L |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,780,746 (GRCm39) |
|
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,155,425 (GRCm39) |
S334T |
probably benign |
Het |
| Scg3 |
C |
T |
9: 75,589,449 (GRCm39) |
S35N |
possibly damaging |
Het |
| Septin5 |
A |
T |
16: 18,443,960 (GRCm39) |
L19Q |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,356,025 (GRCm39) |
F16S |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,038,551 (GRCm39) |
S365R |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,033,347 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
C |
A |
2: 165,357,133 (GRCm39) |
H264Q |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,309,889 (GRCm39) |
I526V |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,696,766 (GRCm39) |
D1203G |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,916,571 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,668,700 (GRCm39) |
W181R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,110,703 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,775,497 (GRCm39) |
A418S |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,443,576 (GRCm39) |
R48C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,487,510 (GRCm39) |
Q677R |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,669,130 (GRCm39) |
A55V |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,906,268 (GRCm39) |
N421D |
probably damaging |
Het |
| Vmn1r201 |
A |
G |
13: 22,658,801 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,826 (GRCm39) |
I118L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,675,105 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,042,865 (GRCm39) |
V1962A |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,760,815 (GRCm39) |
R107* |
probably null |
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 |
|
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'- CGTCAGGAACCATGAGTGAG -3'
(R):5'- TGGCAGTAGCATCTCAATGAG -3'
Sequencing Primer
(F):5'- CCAGTGGTGAGGACATGCTG -3'
(R):5'- GAAACACGGAGTTCTTGGCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation