Incidental Mutation 'R5437:Aoc1'
| ID |
428419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1
|
| Ensembl Gene |
ENSMUSG00000029811 |
| Gene Name |
amine oxidase, copper-containing 1 |
| Synonyms |
1600012D06Rik, Abp1 |
| MMRRC Submission |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48884684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 576
(Q576K)
|
| 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 benign
Transcript: ENSMUST00000031835
AA Change: Q576K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Q576K
| 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: Q576K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Q576K
| 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: Q576K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Q576K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,053,668 (GRCm39) |
N378I |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,281,591 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Fkbp10 |
A |
C |
11: 100,311,849 (GRCm39) |
D174A |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,090 (GRCm39) |
R643C |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,733 (GRCm39) |
D1038G |
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
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 |
|
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'- ATCTTCTCCACTGCTGGGTG -3'
(R):5'- TGCTCAGAGCCTGGAGAAAC -3'
Sequencing Primer
(F):5'- CATCTTACAAACAGAAAGGTCTCTG -3'
(R):5'- AATCACTGAAGGCAGCCCCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation