Incidental Mutation 'R8010:Aoc1'
| ID |
616851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
046050-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48882582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 153
(Y153H)
|
| 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 benign
Transcript: ENSMUST00000031835
AA Change: Y153H
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Y153H
| 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: ENSMUST00000162948
AA Change: Y153H
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Y153H
| 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: Y153H
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Y153H
| 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 damaging
Transcript: ENSMUST00000204856
AA Change: Y175H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811
AA Change: Y175H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,557,303 (GRCm39) |
H130L |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,127,600 (GRCm39) |
S140P |
probably benign |
Het |
| Arhgdib |
A |
G |
6: 136,903,720 (GRCm39) |
I118T |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,680,070 (GRCm39) |
E865V |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,670,878 (GRCm39) |
V587A |
probably benign |
Het |
| Ccdc107 |
G |
T |
4: 43,495,768 (GRCm39) |
E199* |
probably null |
Het |
| Cd55 |
A |
T |
1: 130,387,353 (GRCm39) |
D148E |
probably benign |
Het |
| Cdc42ep1 |
C |
T |
15: 78,731,999 (GRCm39) |
T148I |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,734,969 (GRCm39) |
D19E |
unknown |
Het |
| Chsy3 |
A |
G |
18: 59,543,226 (GRCm39) |
Y788C |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,340,897 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
T |
A |
17: 36,002,384 (GRCm39) |
M175L |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,658,391 (GRCm39) |
K1850N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,611 (GRCm39) |
R495C |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,832,681 (GRCm39) |
Q893L |
unknown |
Het |
| Fbh1 |
A |
T |
2: 11,772,443 (GRCm39) |
N79K |
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,284,272 (GRCm39) |
V1031D |
possibly damaging |
Het |
| Gm7298 |
A |
G |
6: 121,712,542 (GRCm39) |
E118G |
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
| Jcad |
A |
G |
18: 4,674,581 (GRCm39) |
D781G |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,887,765 (GRCm39) |
T25S |
probably benign |
Het |
| Krt5 |
T |
C |
15: 101,620,791 (GRCm39) |
D152G |
probably damaging |
Het |
| Krtap5-5 |
T |
C |
7: 141,783,648 (GRCm39) |
M1V |
probably null |
Het |
| Ktn1 |
C |
T |
14: 47,943,230 (GRCm39) |
T862I |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,647 (GRCm39) |
I525N |
probably benign |
Het |
| Megf6 |
T |
C |
4: 154,354,964 (GRCm39) |
F1457S |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,173 (GRCm39) |
S394C |
probably damaging |
Het |
| Mtmr4 |
T |
G |
11: 87,489,690 (GRCm39) |
V71G |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,067,422 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,260 (GRCm39) |
E20D |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,123,867 (GRCm39) |
M117T |
probably damaging |
Het |
| Or7g30 |
A |
T |
9: 19,352,988 (GRCm39) |
I260L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,304 (GRCm39) |
T351A |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,749,480 (GRCm39) |
T49M |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,414,992 (GRCm39) |
D301G |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,707,803 (GRCm39) |
Q1455* |
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,855,290 (GRCm39) |
N505I |
possibly damaging |
Het |
| Rgs18 |
A |
G |
1: 144,631,738 (GRCm39) |
C125R |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,751,471 (GRCm39) |
C105Y |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,490,233 (GRCm39) |
G570R |
possibly damaging |
Het |
| Sell |
C |
T |
1: 163,893,081 (GRCm39) |
T99I |
possibly damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,159,704 (GRCm39) |
M63K |
probably benign |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,977,512 (GRCm39) |
D1319V |
probably benign |
Het |
| Tdp2 |
C |
T |
13: 25,020,010 (GRCm39) |
T99I |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,380,228 (GRCm39) |
S647T |
unknown |
Het |
| Tpd52l1 |
T |
G |
10: 31,234,009 (GRCm39) |
D48A |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,131,618 (GRCm39) |
D169G |
probably damaging |
Het |
| Wars2 |
C |
A |
3: 99,124,146 (GRCm39) |
L336I |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,693,584 (GRCm39) |
W2906L |
|
Het |
| Xdh |
A |
T |
17: 74,216,312 (GRCm39) |
Y711* |
probably null |
Het |
| Xirp1 |
T |
A |
9: 119,846,890 (GRCm39) |
R664S |
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 |
|
|
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'- TCTCATTGAGATGCTACTGCC -3'
(R):5'- GCACGATAAGCCAGCTTCTAC -3'
Sequencing Primer
(F):5'- TGCTGAAATTTTTGGATGAAGGAAG -3'
(R):5'- GCTTCTACGCTGACCAGAC -3'
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| Posted On |
2020-01-23 |
Incidental Mutation