Incidental Mutation 'R0096:Aoc1l2'
ID |
64058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
MMRRC Submission |
038382-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R0096 (G1)
|
Quality Score |
145 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 48908122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 374
(Q374P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031837
AA Change: Q374P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: Q374P
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 |
0.1687 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
T |
14: 47,301,754 (GRCm39) |
M252L |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
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 |
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 |
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'- CAGAGTGTCTGAGCCCCATGTTTC -3'
(R):5'- GCACCAGCATGTGTCCATTTGTCC -3'
Sequencing Primer
(F):5'- TCTAGCTATAACGTAGAGGACAAC -3'
(R):5'- TCCCTGCACTGGAGTTGAAG -3'
|
Posted On |
2013-08-06 |