Incidental Mutation 'R6733:Aoc1l2'
ID |
530137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48907464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031837
AA Change: S155P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: S155P
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- CATAGAAATGCTGCTGCCCG -3'
(R):5'- GTTGCAACATGAACCAGCTAC -3'
Sequencing Primer
(F):5'- AATGCTGCTGCCCGATAAG -3'
(R):5'- CTACAGCGCTGGTCAGATTTTG -3'
|
Posted On |
2018-08-01 |