Incidental Mutation 'R6357:Aoc1l2'
ID |
512374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R6357 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48907908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 303
(M303V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031837
AA Change: M303V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: M303V
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
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 |
R1488:Aoc1l2
|
UTSW |
6 |
48,910,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
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'- CACTGGAAAGTGAAGCAGCTC -3'
(R):5'- TGAGTGCCTGCAGATACATG -3'
Sequencing Primer
(F):5'- TCTGGTATAACGGCAAGCTC -3'
(R):5'- AGATACATGTCCTCCGAACTGTG -3'
|
Posted On |
2018-04-27 |