Incidental Mutation 'R6000:Aoc1'
ID |
480776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
044179-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6000 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48872189-48886122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48884573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 539
(T539S)
|
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: T539S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: T539S
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: T539S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: T539S
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: T539S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: T539S
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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (64/64) |
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 |
2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,296,050 (GRCm39) |
|
probably null |
Het |
Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
Klrb1c |
T |
G |
6: 128,761,120 (GRCm39) |
D169A |
probably damaging |
Het |
Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,342 (GRCm39) |
P319S |
probably damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,341 (GRCm39) |
P319L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,387,242 (GRCm39) |
S706P |
probably benign |
Het |
Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
Pcdh18 |
A |
C |
3: 49,708,913 (GRCm39) |
S801A |
probably damaging |
Het |
Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
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 |
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'- ATGTACCACATGCCATGGCTG -3'
(R):5'- TGGCCCCAACGGTTCTTTTG -3'
Sequencing Primer
(F):5'- ATGCCATGGCTGACCTGAGAAC -3'
(R):5'- CCAACGGTTCTTTTGGGGGC -3'
|
Posted On |
2017-06-26 |