Incidental Mutation 'R2008:Aoc1'
ID |
219217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
040017-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2008 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48882831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 236
(W236R)
|
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: W236R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: W236R
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: W236R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: W236R
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: W236R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: W236R
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
A |
4: 148,026,034 (GRCm39) |
C185S |
probably benign |
Het |
Acsbg3 |
A |
G |
17: 57,193,478 (GRCm39) |
N608S |
probably benign |
Het |
Actl6b |
T |
A |
5: 137,567,592 (GRCm39) |
S409T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,080,074 (GRCm39) |
V50D |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,021,013 (GRCm39) |
T604A |
probably damaging |
Het |
Adprs |
T |
A |
4: 126,211,137 (GRCm39) |
D260V |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,010,131 (GRCm39) |
E296G |
possibly damaging |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Atp11b |
A |
G |
3: 35,909,271 (GRCm39) |
D1155G |
probably damaging |
Het |
Atp2c1 |
T |
A |
9: 105,309,925 (GRCm39) |
T551S |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,517,996 (GRCm39) |
C281S |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,570,810 (GRCm39) |
|
probably null |
Het |
Capn9 |
T |
G |
8: 125,318,424 (GRCm39) |
C97G |
probably damaging |
Het |
Cbfa2t3 |
A |
G |
8: 123,370,032 (GRCm39) |
V147A |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,893,349 (GRCm39) |
Y136F |
probably damaging |
Het |
Cdh6 |
C |
A |
15: 13,051,562 (GRCm39) |
R357L |
possibly damaging |
Het |
Celf1 |
A |
T |
2: 90,840,753 (GRCm39) |
N367I |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,790,467 (GRCm39) |
I1363V |
probably benign |
Het |
Cfap299 |
C |
T |
5: 98,885,561 (GRCm39) |
T156I |
possibly damaging |
Het |
Colec12 |
T |
A |
18: 9,874,813 (GRCm39) |
D696E |
probably benign |
Het |
Ctbp1 |
C |
T |
5: 33,408,330 (GRCm39) |
E138K |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,382,589 (GRCm39) |
I293T |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dctn1 |
C |
T |
6: 83,166,938 (GRCm39) |
T263I |
probably damaging |
Het |
Ddx49 |
A |
T |
8: 70,748,094 (GRCm39) |
V317E |
probably damaging |
Het |
Edil3 |
G |
A |
13: 89,093,072 (GRCm39) |
|
probably null |
Het |
Egflam |
A |
T |
15: 7,267,285 (GRCm39) |
V700E |
possibly damaging |
Het |
Fam168b |
A |
G |
1: 34,858,946 (GRCm39) |
|
probably null |
Het |
Gigyf2 |
T |
G |
1: 87,301,835 (GRCm39) |
|
probably null |
Het |
H1f2 |
C |
G |
13: 23,923,392 (GRCm39) |
S187R |
probably benign |
Het |
Heatr4 |
A |
G |
12: 84,026,514 (GRCm39) |
S248P |
probably benign |
Het |
Hoxd1 |
A |
T |
2: 74,594,524 (GRCm39) |
I260F |
possibly damaging |
Het |
Hsd3b3 |
A |
T |
3: 98,649,408 (GRCm39) |
L305Q |
probably damaging |
Het |
Itch |
T |
A |
2: 155,052,379 (GRCm39) |
C660S |
possibly damaging |
Het |
Ivd |
A |
T |
2: 118,701,981 (GRCm39) |
I138F |
probably benign |
Het |
Katnip |
C |
G |
7: 125,459,738 (GRCm39) |
H1189D |
probably damaging |
Het |
Lcn4 |
G |
T |
2: 26,561,228 (GRCm39) |
Q18K |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,843,146 (GRCm39) |
Y192H |
probably damaging |
Het |
Mn1 |
T |
C |
5: 111,566,723 (GRCm39) |
L231P |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,386,009 (GRCm39) |
D544G |
probably benign |
Het |
Mthfd1 |
C |
A |
12: 76,344,293 (GRCm39) |
T331K |
probably damaging |
Het |
Myo18b |
T |
A |
5: 113,021,423 (GRCm39) |
Y546F |
probably benign |
Het |
Nod1 |
T |
C |
6: 54,916,310 (GRCm39) |
Y129C |
probably damaging |
Het |
Nprl3 |
A |
G |
11: 32,182,973 (GRCm39) |
V563A |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,498 (GRCm39) |
Y140H |
probably damaging |
Het |
Or4a80 |
A |
T |
2: 89,582,417 (GRCm39) |
C252S |
possibly damaging |
Het |
Or5g29 |
A |
G |
2: 85,421,766 (GRCm39) |
N294S |
probably damaging |
Het |
Or5p72 |
T |
C |
7: 108,022,389 (GRCm39) |
F204L |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,537 (GRCm39) |
S67P |
probably damaging |
Het |
Orc3 |
T |
A |
4: 34,611,049 (GRCm39) |
|
probably null |
Het |
Otog |
T |
C |
7: 45,913,498 (GRCm39) |
V777A |
probably benign |
Het |
Pbxip1 |
G |
T |
3: 89,356,020 (GRCm39) |
V711L |
probably benign |
Het |
Pcdhb16 |
A |
G |
18: 37,611,316 (GRCm39) |
D92G |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,783,096 (GRCm39) |
M964K |
probably damaging |
Het |
Pitpnm2 |
T |
A |
5: 124,290,684 (GRCm39) |
M1L |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,269,683 (GRCm39) |
V3287A |
probably damaging |
Het |
Polq |
T |
A |
16: 36,882,844 (GRCm39) |
H1669Q |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,552,016 (GRCm39) |
S195P |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,517 (GRCm39) |
Y591C |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,651 (GRCm39) |
T268S |
possibly damaging |
Het |
Scd2 |
A |
T |
19: 44,291,610 (GRCm39) |
T350S |
probably benign |
Het |
Scn7a |
T |
A |
2: 66,518,091 (GRCm39) |
Q1040L |
possibly damaging |
Het |
Sdhb |
T |
A |
4: 140,706,340 (GRCm39) |
L259Q |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,033,680 (GRCm39) |
H701R |
probably damaging |
Het |
Slc41a2 |
C |
T |
10: 83,140,167 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,797,785 (GRCm39) |
D1533G |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,713,271 (GRCm39) |
K367R |
possibly damaging |
Het |
Sstr3 |
G |
A |
15: 78,424,711 (GRCm39) |
T12M |
probably benign |
Het |
Synj2 |
G |
T |
17: 6,047,221 (GRCm39) |
E20D |
probably damaging |
Het |
Tchh |
G |
T |
3: 93,353,281 (GRCm39) |
R907L |
unknown |
Het |
Thsd1 |
A |
G |
8: 22,749,247 (GRCm39) |
E645G |
probably benign |
Het |
Tmem176b |
A |
T |
6: 48,812,383 (GRCm39) |
M194K |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,739,265 (GRCm39) |
|
probably null |
Het |
Trim44 |
G |
A |
2: 102,230,722 (GRCm39) |
|
probably benign |
Het |
Triml1 |
T |
A |
8: 43,583,642 (GRCm39) |
R320W |
probably damaging |
Het |
Trmt6 |
A |
T |
2: 132,648,829 (GRCm39) |
C401* |
probably null |
Het |
Trpv5 |
T |
C |
6: 41,636,662 (GRCm39) |
|
probably null |
Het |
V1rd19 |
T |
A |
7: 23,702,726 (GRCm39) |
L64* |
probably null |
Het |
Vmn1r216 |
A |
T |
13: 23,283,661 (GRCm39) |
R115W |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,509,924 (GRCm39) |
N551S |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,450,921 (GRCm39) |
V269A |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,881,813 (GRCm39) |
V1254D |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,156,775 (GRCm39) |
|
probably null |
Het |
Zan |
T |
A |
5: 137,450,712 (GRCm39) |
T1622S |
unknown |
Het |
Zfp112 |
T |
C |
7: 23,826,176 (GRCm39) |
Y715H |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
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 |
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 |
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'- TCATTCCTAGGCTGCGATGAC -3'
(R):5'- TTATATCTGGGGCCACTGGG -3'
Sequencing Primer
(F):5'- CTGCGATGACCGGTTCTTGAC -3'
(R):5'- ACTGGCGTGTGGAATTCCC -3'
|
Posted On |
2014-08-25 |