Incidental Mutation 'R1400:Aoc1'
ID |
160323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
039462-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1400 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48883645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 507
(Q507L)
|
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: Q507L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: Q507L
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: Q507L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: Q507L
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: Q507L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: Q507L
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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
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 |
9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,216,400 (GRCm39) |
S17P |
possibly damaging |
Het |
Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
Prkag2 |
G |
A |
5: 25,078,916 (GRCm39) |
T158I |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
Het |
Zfp729b |
A |
G |
13: 67,740,913 (GRCm39) |
Y451H |
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 |
48,883,217 (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 |
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'- AGGTGGCTTCAACTTCTATGCGG -3'
(R):5'- AGATACTTGCCCATACCTCAGGGAC -3'
Sequencing Primer
(F):5'- CAACTTCTATGCGGGTTTGAAAG -3'
(R):5'- GCTTCATATTGCTAGGAAGCAGAC -3'
|
Posted On |
2014-03-14 |