Incidental Mutation 'R8517:Aoc1'
| ID |
656204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
067849-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 48883644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 507
(Q507*)
|
| 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: Q507*
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Q507*
| 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: Q507*
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Q507*
| 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: Q507*
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Q507*
| 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: 99.6%
- 20x: 98.9%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,206 (GRCm39) |
D131E |
probably damaging |
Het |
| Abca17 |
C |
A |
17: 24,536,207 (GRCm39) |
V487F |
probably benign |
Het |
| Anapc5 |
T |
C |
5: 122,959,093 (GRCm39) |
S41G |
probably benign |
Het |
| Ccdc171 |
G |
A |
4: 83,661,298 (GRCm39) |
R1136H |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,460,012 (GRCm39) |
D413G |
probably benign |
Het |
| Copz2 |
A |
G |
11: 96,744,309 (GRCm39) |
K74E |
possibly damaging |
Het |
| Cpsf4l |
C |
A |
11: 113,599,651 (GRCm39) |
A45S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,838,207 (GRCm39) |
I710V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,446,479 (GRCm39) |
R3348Q |
|
Het |
| Dchs2 |
A |
G |
3: 83,178,419 (GRCm39) |
I1157M |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,272,455 (GRCm39) |
F3L |
probably benign |
Het |
| Dennd5b |
A |
C |
6: 148,930,619 (GRCm39) |
C743G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,155,440 (GRCm39) |
E725G |
probably benign |
Het |
| Dnajc3 |
G |
T |
14: 119,190,589 (GRCm39) |
G51* |
probably null |
Het |
| Dyrk2 |
T |
C |
10: 118,696,926 (GRCm39) |
T111A |
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,822 (GRCm39) |
F206I |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,565 (GRCm39) |
S176R |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,933 (GRCm39) |
L313* |
probably null |
Het |
| Fbh1 |
A |
G |
2: 11,782,241 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
G |
A |
16: 16,240,509 (GRCm39) |
T740I |
probably benign |
Het |
| Gprc6a |
G |
T |
10: 51,507,337 (GRCm39) |
A64D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,253,723 (GRCm39) |
V1365E |
probably damaging |
Het |
| Hdc |
C |
G |
2: 126,439,890 (GRCm39) |
|
probably null |
Het |
| Igkv5-39 |
T |
G |
6: 69,877,553 (GRCm39) |
I68L |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,636 (GRCm39) |
V425D |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,199 (GRCm39) |
S166P |
probably benign |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,524 (GRCm39) |
C293* |
probably null |
Het |
| Map7 |
T |
C |
10: 20,137,581 (GRCm39) |
V251A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,100,244 (GRCm39) |
L1597M |
possibly damaging |
Het |
| Nmu |
T |
C |
5: 76,493,326 (GRCm39) |
E82G |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,455,390 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
G |
5: 63,948,925 (GRCm39) |
N166D |
probably damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,681 (GRCm39) |
H274L |
possibly damaging |
Het |
| Pbrm1 |
C |
A |
14: 30,789,739 (GRCm39) |
D784E |
probably benign |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,117 (GRCm39) |
M536K |
possibly damaging |
Het |
| Pml |
T |
A |
9: 58,127,651 (GRCm39) |
Q698L |
possibly damaging |
Het |
| Pon1 |
T |
C |
6: 5,171,769 (GRCm39) |
Y294C |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,973,849 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
A |
1: 22,522,246 (GRCm39) |
H484L |
probably damaging |
Het |
| Rpia |
C |
A |
6: 70,743,630 (GRCm39) |
V274L |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,225 (GRCm39) |
L424P |
probably damaging |
Het |
| Scnm1 |
A |
C |
3: 95,040,134 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
A |
11: 82,894,968 (GRCm39) |
M613L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,435,641 (GRCm39) |
V429A |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,170,934 (GRCm39) |
D1022V |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,594 (GRCm39) |
N100D |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,357,997 (GRCm39) |
H752L |
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,110,043 (GRCm39) |
E244D |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,760 (GRCm39) |
|
probably null |
Het |
| Zfp46 |
A |
G |
4: 136,018,458 (GRCm39) |
T431A |
probably benign |
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 |
|
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'- GTGGCTTCAACTTCTATGCGG -3'
(R):5'- GCTGCTTCATATTGCTAGGAAG -3'
Sequencing Primer
(F):5'- CAACTTCTATGCGGGTTTGAAAG -3'
(R):5'- GACAGAAAGAATAACACCAATGTGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation