Incidental Mutation 'R6679:Aoc3'
| ID |
527394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc3
|
| Ensembl Gene |
ENSMUSG00000019326 |
| Gene Name |
amine oxidase, copper containing 3 |
| Synonyms |
semicarbazide-sensitive amine oxidase, SSAO, VAP1 |
| MMRRC Submission |
044798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101221432-101230256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101222279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 129
(L129M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017316]
[ENSMUST00000041095]
[ENSMUST00000103105]
[ENSMUST00000107264]
|
| AlphaFold |
O70423 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017316
AA Change: L129M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: L129M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu_amine_oxidN2
|
23 |
109 |
4.3e-24 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
126 |
226 |
1.4e-28 |
PFAM |
|
Pfam:Cu_amine_oxid
|
251 |
444 |
4.2e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041095
|
| SMART Domains |
Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
62 |
148 |
1.7e-29 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
165 |
263 |
5.7e-22 |
PFAM |
|
Pfam:Cu_amine_oxid
|
309 |
718 |
3.7e-110 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103105
AA Change: L172M
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: L172M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
66 |
152 |
1.7e-29 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
169 |
269 |
1.5e-31 |
PFAM |
|
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxid
|
314 |
721 |
5.3e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107264
|
| SMART Domains |
Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
62 |
148 |
8.2e-24 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
165 |
263 |
9.9e-20 |
PFAM |
|
Pfam:Cu_amine_oxid
|
308 |
605 |
5.9e-86 |
PFAM |
|
Pfam:Cu_amine_oxid
|
600 |
694 |
7.3e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice display decreased lymphocyte migration and homing in response to inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
| Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
| Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
| Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
| Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
| Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
| Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
| Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
| Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
probably damaging |
Het |
|
| Other mutations in Aoc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01488:Aoc3
|
APN |
11 |
101,228,304 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02026:Aoc3
|
APN |
11 |
101,228,421 (GRCm39) |
missense |
probably benign |
|
|
IGL02500:Aoc3
|
APN |
11 |
101,228,215 (GRCm39) |
nonsense |
probably null |
|
|
R0463:Aoc3
|
UTSW |
11 |
101,222,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Aoc3
|
UTSW |
11 |
101,228,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Aoc3
|
UTSW |
11 |
101,222,964 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0685:Aoc3
|
UTSW |
11 |
101,227,273 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0740:Aoc3
|
UTSW |
11 |
101,223,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0946:Aoc3
|
UTSW |
11 |
101,223,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1723:Aoc3
|
UTSW |
11 |
101,227,261 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1869:Aoc3
|
UTSW |
11 |
101,222,293 (GRCm39) |
nonsense |
probably null |
|
|
R3735:Aoc3
|
UTSW |
11 |
101,223,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4497:Aoc3
|
UTSW |
11 |
101,222,871 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4613:Aoc3
|
UTSW |
11 |
101,228,485 (GRCm39) |
intron |
probably benign |
|
|
R4858:Aoc3
|
UTSW |
11 |
101,222,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Aoc3
|
UTSW |
11 |
101,222,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Aoc3
|
UTSW |
11 |
101,221,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Aoc3
|
UTSW |
11 |
101,222,578 (GRCm39) |
nonsense |
probably null |
|
|
R7485:Aoc3
|
UTSW |
11 |
101,228,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Aoc3
|
UTSW |
11 |
101,223,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7888:Aoc3
|
UTSW |
11 |
101,223,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Aoc3
|
UTSW |
11 |
101,223,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Aoc3
|
UTSW |
11 |
101,232,573 (GRCm39) |
missense |
unknown |
|
|
R8491:Aoc3
|
UTSW |
11 |
101,223,042 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8685:Aoc3
|
UTSW |
11 |
101,223,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8732:Aoc3
|
UTSW |
11 |
101,222,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9660:Aoc3
|
UTSW |
11 |
101,221,914 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTCAGTAGAGTTGCAGCTG -3'
(R):5'- TACAAGCCAAACCAGGTGG -3'
Sequencing Primer
(F):5'- CCACTTGGACAGAGGGGG -3'
(R):5'- AAACCAGGTGGCCCGGTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation