Incidental Mutation 'R6703:Aoc1'
ID |
528275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1
|
Ensembl Gene |
ENSMUSG00000029811 |
Gene Name |
amine oxidase, copper-containing 1 |
Synonyms |
1600012D06Rik, Abp1 |
MMRRC Submission |
044821-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6703 (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 C
at 48882648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 197
(T197P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144764
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031835]
[ENSMUST00000162948]
[ENSMUST00000167529]
[ENSMUST00000204856]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031835
AA Change: T175P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031835 Gene: ENSMUSG00000029811 AA Change: T175P
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 |
possibly damaging
Transcript: ENSMUST00000162948
AA Change: T175P
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124085 Gene: ENSMUSG00000029811 AA Change: T175P
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 |
possibly damaging
Transcript: ENSMUST00000167529
AA Change: T175P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128816 Gene: ENSMUSG00000029811 AA Change: T175P
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: T197P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144764 Gene: ENSMUSG00000029811 AA Change: T197P
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: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
99% (73/74) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
Akap13 |
T |
C |
7: 75,252,646 (GRCm39) |
S259P |
probably damaging |
Het |
Blnk |
A |
T |
19: 40,950,950 (GRCm39) |
|
probably null |
Het |
Ccser1 |
A |
T |
6: 61,615,495 (GRCm39) |
K94* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
Clec4n |
A |
G |
6: 123,212,553 (GRCm39) |
Q89R |
probably null |
Het |
Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,834,909 (GRCm39) |
E1822G |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,690,849 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
A |
T |
6: 126,867,045 (GRCm39) |
I329N |
probably damaging |
Het |
E4f1 |
C |
A |
17: 24,666,105 (GRCm39) |
R231L |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,502,106 (GRCm39) |
M99K |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,315,897 (GRCm39) |
S222G |
probably benign |
Het |
H1f7 |
C |
A |
15: 98,155,153 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,268,653 (GRCm39) |
|
probably benign |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Itln1 |
C |
T |
1: 171,358,151 (GRCm39) |
C199Y |
probably damaging |
Het |
Kctd3 |
G |
A |
1: 188,728,726 (GRCm39) |
R137C |
probably damaging |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Larp7 |
C |
T |
3: 127,337,873 (GRCm39) |
M395I |
probably damaging |
Het |
Lpcat3 |
C |
T |
6: 124,640,185 (GRCm39) |
A5V |
probably benign |
Het |
Lrrc43 |
C |
T |
5: 123,637,532 (GRCm39) |
T233M |
possibly damaging |
Het |
Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
Mgst2 |
T |
C |
3: 51,572,033 (GRCm39) |
|
probably null |
Het |
Mug2 |
T |
G |
6: 122,055,653 (GRCm39) |
I1112R |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,902 (GRCm39) |
F142S |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,205 (GRCm39) |
S160P |
probably damaging |
Het |
Nudt16l2 |
T |
C |
9: 105,021,758 (GRCm39) |
Y96C |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
Or2m13 |
T |
C |
16: 19,226,122 (GRCm39) |
I215V |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,335,734 (GRCm39) |
V683M |
possibly damaging |
Het |
Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
Pif1 |
T |
C |
9: 65,500,545 (GRCm39) |
V490A |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,309,250 (GRCm39) |
Y219N |
probably benign |
Het |
Ppl |
T |
G |
16: 4,907,328 (GRCm39) |
E989A |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,488,392 (GRCm39) |
S505A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
Ptges |
A |
G |
2: 30,793,133 (GRCm39) |
V33A |
possibly damaging |
Het |
Qser1 |
G |
A |
2: 104,607,670 (GRCm39) |
T1416I |
possibly damaging |
Het |
Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
Rtn3 |
A |
T |
19: 7,412,410 (GRCm39) |
V788D |
probably damaging |
Het |
Rtn4r |
T |
C |
16: 17,969,055 (GRCm39) |
L161P |
probably damaging |
Het |
Rtn4rl1 |
G |
A |
11: 75,156,354 (GRCm39) |
R262Q |
probably benign |
Het |
S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 80,029,203 (GRCm39) |
E522G |
probably damaging |
Het |
Slc27a6 |
A |
G |
18: 58,742,911 (GRCm39) |
N533S |
probably benign |
Het |
Slc39a5 |
T |
A |
10: 128,233,651 (GRCm39) |
D282V |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,304,967 (GRCm39) |
I109T |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
Sox5 |
G |
T |
6: 143,779,191 (GRCm39) |
S648R |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,799,842 (GRCm39) |
S2161N |
probably benign |
Het |
Sptbn2 |
C |
A |
19: 4,799,843 (GRCm39) |
S2161R |
probably benign |
Het |
St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
Tmub1 |
T |
C |
5: 24,651,944 (GRCm39) |
S7G |
probably benign |
Het |
Trarg1 |
A |
T |
11: 76,584,988 (GRCm39) |
|
probably null |
Het |
Trpm5 |
C |
A |
7: 142,623,055 (GRCm39) |
|
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,214,044 (GRCm39) |
S305P |
probably benign |
Het |
Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
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 |
48,883,645 (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 |
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'- AAGCCAGGGCCATCATCTTC -3'
(R):5'- TGGACATCTGTGCTGCTATG -3'
Sequencing Primer
(F):5'- GATCACCCCAATGTCACTGAGTTTG -3'
(R):5'- CTGCTATGATCTACAAGGATCTCCAG -3'
|
Posted On |
2018-07-24 |