Incidental Mutation 'R5847:Aoc1l2'
ID |
453667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l2
|
Ensembl Gene |
ENSMUSG00000029813 |
Gene Name |
amine oxidase copper containing 1-like 2 |
Synonyms |
1600015I10Rik, Doxl1 |
MMRRC Submission |
044065-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R5847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48906830-48910621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48910412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 701
(F701L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031837]
|
AlphaFold |
E9Q745 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031837
AA Change: F701L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031837 Gene: ENSMUSG00000029813 AA Change: F701L
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,302,521 (GRCm39) |
Y964F |
probably damaging |
Het |
Akap3 |
T |
A |
6: 126,842,521 (GRCm39) |
L380Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,723 (GRCm39) |
I760T |
probably benign |
Het |
Arhgap20 |
G |
A |
9: 51,736,276 (GRCm39) |
|
probably benign |
Het |
Cacng3 |
T |
C |
7: 122,361,532 (GRCm39) |
F113S |
possibly damaging |
Het |
Ccdc158 |
G |
T |
5: 92,775,339 (GRCm39) |
N955K |
probably benign |
Het |
Ccdc63 |
T |
A |
5: 122,254,908 (GRCm39) |
M368L |
possibly damaging |
Het |
Cnot2 |
T |
C |
10: 116,363,851 (GRCm39) |
T18A |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,950,820 (GRCm39) |
D550E |
possibly damaging |
Het |
Cyp2c37 |
C |
T |
19: 40,000,176 (GRCm39) |
R433W |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,255,077 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
CAGTTGCTTAAA |
CA |
11: 65,986,066 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
G |
12: 40,671,250 (GRCm39) |
Y23C |
probably damaging |
Het |
Edar |
T |
A |
10: 58,439,001 (GRCm39) |
S344C |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,073,270 (GRCm39) |
V2431A |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,562,068 (GRCm39) |
|
probably benign |
Het |
Idh3b |
A |
T |
2: 130,125,948 (GRCm39) |
D41E |
probably benign |
Het |
Igkv8-24 |
A |
T |
6: 70,193,956 (GRCm39) |
V84D |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,749,164 (GRCm39) |
L778Q |
probably benign |
Het |
Mgam |
T |
C |
6: 40,660,989 (GRCm39) |
I1118T |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,432,925 (GRCm39) |
V1116A |
probably damaging |
Het |
Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,347,573 (GRCm39) |
D246V |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,880,236 (GRCm39) |
E86G |
probably damaging |
Het |
Or2l13b |
A |
T |
16: 19,349,076 (GRCm39) |
V198E |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,719,064 (GRCm39) |
Y130F |
probably benign |
Het |
Or8h7 |
A |
C |
2: 86,720,676 (GRCm39) |
V281G |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,912,193 (GRCm39) |
I275L |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,386,786 (GRCm39) |
V574A |
possibly damaging |
Het |
Pdxk |
G |
T |
10: 78,280,872 (GRCm39) |
D189E |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,444,960 (GRCm39) |
E2276* |
probably null |
Het |
Ppp1r10 |
A |
G |
17: 36,237,739 (GRCm39) |
N237S |
possibly damaging |
Het |
Rheb |
T |
A |
5: 25,012,067 (GRCm39) |
Y131F |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,031,613 (GRCm39) |
D88G |
probably damaging |
Het |
Scgb2b33 |
T |
C |
7: 32,812,239 (GRCm39) |
|
noncoding transcript |
Het |
Snx9 |
C |
A |
17: 5,974,896 (GRCm39) |
N461K |
possibly damaging |
Het |
Tbc1d2b |
C |
A |
9: 90,091,777 (GRCm39) |
V842F |
probably damaging |
Het |
Tgfbi |
G |
A |
13: 56,784,418 (GRCm39) |
E615K |
possibly damaging |
Het |
Tmem51 |
A |
G |
4: 141,759,346 (GRCm39) |
M134T |
probably damaging |
Het |
Tox4 |
A |
G |
14: 52,524,241 (GRCm39) |
D125G |
probably damaging |
Het |
Trappc3 |
A |
T |
4: 126,167,771 (GRCm39) |
N110I |
probably damaging |
Het |
Trim11 |
T |
A |
11: 58,881,419 (GRCm39) |
D437E |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,537,682 (GRCm39) |
N196S |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,969,369 (GRCm39) |
G362V |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,758,153 (GRCm39) |
F731S |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,662,174 (GRCm39) |
D140E |
possibly damaging |
Het |
Zfp24 |
G |
A |
18: 24,151,095 (GRCm39) |
P17L |
possibly damaging |
Het |
Zfp354b |
T |
C |
11: 50,814,043 (GRCm39) |
E294G |
probably damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zfp868 |
T |
C |
8: 70,064,303 (GRCm39) |
H344R |
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 |
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 |
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'- ATCCCATGAAGTCTGTGGGC -3'
(R):5'- TTGAATGTAACCATGGCCACC -3'
Sequencing Primer
(F):5'- TCTGTGGGCACGGCAAGTC -3'
(R):5'- TGGAGCCCATTCCCTGCAC -3'
|
Posted On |
2017-02-10 |