Incidental Mutation 'R1488:Aoc1l2'
ID |
165494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
MMRRC Submission |
039540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R1488 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48910381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 691
(N691S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031837
AA Change: N691S
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: N691S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:Cu_amine_oxidN2
|
50 |
136 |
1.7e-25 |
PFAM |
Pfam:Cu_amine_oxidN3
|
152 |
252 |
3.5e-16 |
PFAM |
Pfam:Cu_amine_oxid
|
306 |
708 |
7.1e-94 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158710
|
Meta Mutation Damage Score |
0.3378 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
A |
G |
11: 97,391,685 (GRCm39) |
S1401G |
possibly damaging |
Het |
Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
Atg4c |
T |
A |
4: 99,109,479 (GRCm39) |
W149R |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,460,049 (GRCm39) |
I71T |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,176,530 (GRCm39) |
L748F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 135,002,602 (GRCm39) |
Y157C |
probably damaging |
Het |
C2cd4a |
G |
T |
9: 67,738,990 (GRCm39) |
R18S |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,560,526 (GRCm39) |
H839R |
probably damaging |
Het |
Ccdc24 |
C |
A |
4: 117,727,765 (GRCm39) |
S134I |
possibly damaging |
Het |
Cd55 |
G |
T |
1: 130,376,115 (GRCm39) |
T70K |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,789,925 (GRCm39) |
K470N |
possibly damaging |
Het |
Csn2 |
G |
A |
5: 87,842,755 (GRCm39) |
Q91* |
probably null |
Het |
Ctsh |
G |
A |
9: 89,953,944 (GRCm39) |
D218N |
possibly damaging |
Het |
Cyb5r4 |
C |
G |
9: 86,911,591 (GRCm39) |
Y88* |
probably null |
Het |
Dgkq |
A |
G |
5: 108,798,743 (GRCm39) |
F601S |
probably damaging |
Het |
Eci2 |
A |
G |
13: 35,161,916 (GRCm39) |
V352A |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,255,997 (GRCm39) |
T421A |
probably benign |
Het |
Lamp5 |
T |
C |
2: 135,911,011 (GRCm39) |
V248A |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,515,850 (GRCm39) |
L483Q |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,392,036 (GRCm39) |
M509I |
probably benign |
Het |
Lrrfip1 |
T |
C |
1: 91,042,354 (GRCm39) |
V253A |
probably damaging |
Het |
Mpdz |
C |
A |
4: 81,266,945 (GRCm39) |
E981* |
probably null |
Het |
Mpo |
A |
C |
11: 87,688,256 (GRCm39) |
N305T |
probably damaging |
Het |
Or2y1 |
A |
G |
11: 49,385,945 (GRCm39) |
E195G |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,733,859 (GRCm39) |
I143V |
probably benign |
Het |
Or5p79 |
A |
T |
7: 108,221,696 (GRCm39) |
I226F |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,614,490 (GRCm39) |
S69P |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,652,941 (GRCm39) |
T470A |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,705,247 (GRCm39) |
D884G |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,263,752 (GRCm39) |
I1239K |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,592,364 (GRCm39) |
F625I |
probably damaging |
Het |
Rab20 |
A |
T |
8: 11,504,268 (GRCm39) |
V144E |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,371,715 (GRCm39) |
N4840S |
probably benign |
Het |
Scaf8 |
T |
G |
17: 3,247,872 (GRCm39) |
M1065R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,996,449 (GRCm39) |
L319P |
possibly damaging |
Het |
Slit1 |
A |
G |
19: 41,596,824 (GRCm39) |
C1092R |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,786 (GRCm39) |
D193G |
probably damaging |
Het |
Tmem145 |
T |
A |
7: 25,006,860 (GRCm39) |
|
probably null |
Het |
Tmem184a |
T |
A |
5: 139,793,395 (GRCm39) |
K235N |
probably benign |
Het |
Tnpo1 |
A |
T |
13: 98,993,415 (GRCm39) |
D590E |
probably damaging |
Het |
Trio |
C |
A |
15: 27,741,053 (GRCm39) |
G2724V |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,696,301 (GRCm39) |
Y34F |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,193,045 (GRCm39) |
T190A |
probably benign |
Het |
Tubgcp4 |
T |
G |
2: 121,007,031 (GRCm39) |
V136G |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r74 |
T |
C |
7: 11,581,510 (GRCm39) |
I270T |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,013,922 (GRCm39) |
E238V |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,137 (GRCm39) |
F313L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,731,752 (GRCm39) |
Y310H |
probably damaging |
Het |
|
Other mutations in Aoc1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00925:Aoc1l2
|
APN |
6 |
48,907,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Aoc1l2
|
APN |
6 |
48,909,477 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01751:Aoc1l2
|
APN |
6 |
48,907,522 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01915:Aoc1l2
|
APN |
6 |
48,908,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02669:Aoc1l2
|
APN |
6 |
48,908,407 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03033:Aoc1l2
|
APN |
6 |
48,909,452 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03242:Aoc1l2
|
APN |
6 |
48,909,479 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0096:Aoc1l2
|
UTSW |
6 |
48,908,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Aoc1l2
|
UTSW |
6 |
48,908,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0448:Aoc1l2
|
UTSW |
6 |
48,909,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Aoc1l2
|
UTSW |
6 |
48,908,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1520:Aoc1l2
|
UTSW |
6 |
48,908,231 (GRCm39) |
nonsense |
probably null |
|
R1922:Aoc1l2
|
UTSW |
6 |
48,908,220 (GRCm39) |
missense |
probably benign |
0.00 |
R1992:Aoc1l2
|
UTSW |
6 |
48,907,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Aoc1l2
|
UTSW |
6 |
48,909,363 (GRCm39) |
missense |
probably damaging |
0.98 |
R2021:Aoc1l2
|
UTSW |
6 |
48,908,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Aoc1l2
|
UTSW |
6 |
48,908,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Aoc1l2
|
UTSW |
6 |
48,908,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Aoc1l2
|
UTSW |
6 |
48,907,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R5114:Aoc1l2
|
UTSW |
6 |
48,908,292 (GRCm39) |
missense |
probably benign |
0.02 |
R5610:Aoc1l2
|
UTSW |
6 |
48,907,953 (GRCm39) |
missense |
probably benign |
0.00 |
R5823:Aoc1l2
|
UTSW |
6 |
48,907,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R5847:Aoc1l2
|
UTSW |
6 |
48,910,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6233:Aoc1l2
|
UTSW |
6 |
48,907,899 (GRCm39) |
missense |
probably benign |
|
R6357:Aoc1l2
|
UTSW |
6 |
48,907,908 (GRCm39) |
missense |
probably benign |
0.00 |
R6694:Aoc1l2
|
UTSW |
6 |
48,907,480 (GRCm39) |
missense |
probably benign |
0.21 |
R6733:Aoc1l2
|
UTSW |
6 |
48,907,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Aoc1l2
|
UTSW |
6 |
48,907,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6898:Aoc1l2
|
UTSW |
6 |
48,907,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R6916:Aoc1l2
|
UTSW |
6 |
48,907,987 (GRCm39) |
missense |
probably benign |
0.01 |
R7242:Aoc1l2
|
UTSW |
6 |
48,908,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Aoc1l2
|
UTSW |
6 |
48,909,620 (GRCm39) |
missense |
probably benign |
0.07 |
R8257:Aoc1l2
|
UTSW |
6 |
48,909,431 (GRCm39) |
missense |
probably benign |
0.04 |
R8391:Aoc1l2
|
UTSW |
6 |
48,909,602 (GRCm39) |
missense |
probably damaging |
0.96 |
R8839:Aoc1l2
|
UTSW |
6 |
48,907,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8863:Aoc1l2
|
UTSW |
6 |
48,907,042 (GRCm39) |
missense |
probably benign |
0.00 |
R9266:Aoc1l2
|
UTSW |
6 |
48,907,171 (GRCm39) |
missense |
probably benign |
0.00 |
R9274:Aoc1l2
|
UTSW |
6 |
48,907,341 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9380:Aoc1l2
|
UTSW |
6 |
48,910,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Aoc1l2
|
UTSW |
6 |
48,907,298 (GRCm39) |
missense |
probably benign |
0.08 |
R9562:Aoc1l2
|
UTSW |
6 |
48,907,909 (GRCm39) |
missense |
probably benign |
0.01 |
R9565:Aoc1l2
|
UTSW |
6 |
48,907,909 (GRCm39) |
missense |
probably benign |
0.01 |
R9703:Aoc1l2
|
UTSW |
6 |
48,909,629 (GRCm39) |
missense |
probably benign |
0.01 |
R9781:Aoc1l2
|
UTSW |
6 |
48,907,660 (GRCm39) |
missense |
possibly damaging |
0.58 |
X0062:Aoc1l2
|
UTSW |
6 |
48,910,066 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1176:Aoc1l2
|
UTSW |
6 |
48,909,402 (GRCm39) |
missense |
probably benign |
0.38 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGAACTGAGGACATCCCATGAAG -3'
(R):5'- GCCACAGGATGAGAGTGCTGATAATC -3'
Sequencing Primer
(F):5'- GGACATCCCATGAAGTCTGTG -3'
(R):5'- CATTAAGGTGGAACATTTCCCC -3'
|
Posted On |
2014-03-28 |