Incidental Mutation 'R7234:Aoc1'
| ID |
562696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
045304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 48882750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 209
(Q209*)
|
| 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 null
Transcript: ENSMUST00000031835
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Q209*
| 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 null
Transcript: ENSMUST00000162948
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Q209*
| 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 null
Transcript: ENSMUST00000167529
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Q209*
| 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 null
Transcript: ENSMUST00000204856
AA Change: Q231*
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: Q231*
| 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% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
T |
A |
19: 4,037,758 (GRCm39) |
Y88* |
probably null |
Het |
| AI606181 |
T |
A |
19: 41,582,076 (GRCm39) |
I82N |
unknown |
Het |
| Akap1 |
T |
C |
11: 88,729,808 (GRCm39) |
Y638C |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,121 (GRCm39) |
N383D |
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,742 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
T |
15: 77,409,875 (GRCm39) |
L357* |
probably null |
Het |
| Atxn2l |
A |
G |
7: 126,092,373 (GRCm39) |
L958P |
probably damaging |
Het |
| Cab39l |
T |
A |
14: 59,734,395 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,295,024 (GRCm39) |
|
probably null |
Het |
| Cdkn3 |
T |
C |
14: 47,008,918 (GRCm39) |
S204P |
unknown |
Het |
| Cds2 |
T |
C |
2: 132,146,400 (GRCm39) |
|
probably null |
Het |
| Cideb |
C |
T |
14: 55,992,017 (GRCm39) |
R179H |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,254,625 (GRCm39) |
Q1006R |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,350,572 (GRCm39) |
Y1547C |
|
Het |
| Dicer1 |
A |
G |
12: 104,675,108 (GRCm39) |
L718S |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dyrk2 |
T |
C |
10: 118,696,136 (GRCm39) |
H374R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,552,886 (GRCm39) |
Y283N |
probably benign |
Het |
| Ero1b |
A |
T |
13: 12,615,203 (GRCm39) |
S345C |
possibly damaging |
Het |
| Fam83g |
T |
C |
11: 61,593,342 (GRCm39) |
V292A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,507,841 (GRCm39) |
D513G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,562 (GRCm39) |
W617R |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,443 (GRCm39) |
V109M |
probably damaging |
Het |
| Gbp5 |
A |
T |
3: 142,226,898 (GRCm39) |
H583L |
probably benign |
Het |
| Gm10306 |
T |
A |
4: 94,445,032 (GRCm39) |
L84M |
unknown |
Het |
| Gsap |
A |
G |
5: 21,391,433 (GRCm39) |
T25A |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,467,136 (GRCm39) |
R2466L |
possibly damaging |
Het |
| Ide |
C |
A |
19: 37,268,184 (GRCm39) |
C557F |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,540 (GRCm39) |
Y657* |
probably null |
Het |
| Igdcc4 |
T |
A |
9: 65,042,750 (GRCm39) |
C1234* |
probably null |
Het |
| Ints4 |
A |
G |
7: 97,179,507 (GRCm39) |
I701V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,792 (GRCm39) |
I1467F |
possibly damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,363,256 (GRCm39) |
R2M |
unknown |
Het |
| Kcnrg |
A |
T |
14: 61,845,531 (GRCm39) |
E190D |
unknown |
Het |
| Klk13 |
T |
C |
7: 43,370,841 (GRCm39) |
L131P |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,099,359 (GRCm39) |
L14Q |
possibly damaging |
Het |
| Mdm4 |
A |
T |
1: 132,938,853 (GRCm39) |
D80E |
probably damaging |
Het |
| Mib2 |
G |
T |
4: 155,742,350 (GRCm39) |
Q311K |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,452,773 (GRCm39) |
S1703T |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,011 (GRCm39) |
C200* |
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,961,655 (GRCm39) |
I361N |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,451 (GRCm39) |
E259G |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,673 (GRCm39) |
F104I |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,089 (GRCm39) |
L157P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,488,698 (GRCm39) |
H1658L |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,462 (GRCm39) |
T297A |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,455,851 (GRCm39) |
C722* |
probably null |
Het |
| Ribc2 |
A |
G |
15: 85,019,733 (GRCm39) |
K172E |
probably benign |
Het |
| Scamp5 |
C |
A |
9: 57,354,423 (GRCm39) |
W77L |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,130,957 (GRCm39) |
K319* |
probably null |
Het |
| Sec16a |
G |
T |
2: 26,329,780 (GRCm39) |
T745K |
probably damaging |
Het |
| Slc15a2 |
G |
A |
16: 36,578,173 (GRCm39) |
A403V |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,466 (GRCm39) |
V145A |
probably benign |
Het |
| Sncaip |
C |
T |
18: 53,048,416 (GRCm39) |
H951Y |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,630 (GRCm39) |
|
probably null |
Het |
| Spen |
C |
T |
4: 141,206,446 (GRCm39) |
R727Q |
unknown |
Het |
| Thra |
T |
C |
11: 98,654,544 (GRCm39) |
S305P |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,067 (GRCm39) |
V170A |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,742,786 (GRCm39) |
C388* |
probably null |
Het |
| Tmem60 |
T |
A |
5: 21,091,619 (GRCm39) |
V128D |
possibly damaging |
Het |
| Tpo |
G |
A |
12: 30,142,685 (GRCm39) |
P680S |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,595 (GRCm39) |
E730G |
possibly damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,315 (GRCm39) |
T608A |
probably benign |
Het |
| Xrra1 |
G |
A |
7: 99,563,456 (GRCm39) |
S481N |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,162,961 (GRCm39) |
V446I |
unknown |
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 |
|
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'- ACCATCTGTCCTGGTCATCAAG -3'
(R):5'- TCGAGAACCACTTCCTCCAG -3'
Sequencing Primer
(F):5'- GACCCATCTCCACAGCGG -3'
(R):5'- AGAACCACTGCCTCCACTTCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation