Incidental Mutation 'R9070:Aoc1l3'
ID |
689490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l3
|
Ensembl Gene |
ENSMUSG00000039215 |
Gene Name |
amine oxidase copper containing 1-like 3 |
Synonyms |
SVS I, Svs1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R9070 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48965329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 446
(N446D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
AlphaFold |
Q6WIZ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037696
AA Change: N446D
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045221 Gene: ENSMUSG00000039215 AA Change: N446D
Domain | Start | End | E-Value | Type |
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.5e-24 |
PFAM |
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.7e-16 |
PFAM |
internal_repeat_1
|
286 |
342 |
7.28e-22 |
PROSPERO |
Pfam:Cu_amine_oxid
|
408 |
811 |
2e-92 |
PFAM |
|
Meta Mutation Damage Score |
0.1345 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
T |
C |
16: 35,100,770 (GRCm39) |
L774P |
probably damaging |
Het |
Aldh2 |
T |
C |
5: 121,707,032 (GRCm39) |
E495G |
probably damaging |
Het |
Als2cl |
T |
C |
9: 110,718,288 (GRCm39) |
V343A |
probably benign |
Het |
Antxrl |
T |
A |
14: 33,793,671 (GRCm39) |
C466* |
probably null |
Het |
Arc |
A |
G |
15: 74,543,833 (GRCm39) |
L130P |
probably damaging |
Het |
Barhl1 |
C |
A |
2: 28,805,423 (GRCm39) |
R90L |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,958,931 (GRCm39) |
M1149V |
probably benign |
Het |
Bsn |
G |
A |
9: 107,987,295 (GRCm39) |
S106L |
|
Het |
Calu |
A |
G |
6: 29,356,567 (GRCm39) |
E31G |
probably benign |
Het |
Cdh23 |
T |
G |
10: 60,173,539 (GRCm39) |
I1650L |
probably benign |
Het |
Ceacam9 |
T |
C |
7: 16,457,787 (GRCm39) |
V100A |
possibly damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,654,793 (GRCm39) |
S159R |
possibly damaging |
Het |
Dpyd |
T |
G |
3: 118,792,892 (GRCm39) |
I533S |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,514,373 (GRCm39) |
D1016G |
possibly damaging |
Het |
Fv1 |
T |
A |
4: 147,954,414 (GRCm39) |
W327R |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,249,762 (GRCm39) |
D411G |
probably benign |
Het |
Gldc |
A |
T |
19: 30,080,404 (GRCm39) |
D885E |
probably damaging |
Het |
H4c3 |
A |
G |
13: 23,882,170 (GRCm39) |
V88A |
probably damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,389,371 (GRCm39) |
W82R |
possibly damaging |
Het |
Hif1an |
A |
G |
19: 44,551,458 (GRCm39) |
S48G |
probably benign |
Het |
Itgal |
C |
T |
7: 126,927,873 (GRCm39) |
R1023W |
probably null |
Het |
Kif13a |
C |
A |
13: 46,905,934 (GRCm39) |
A1618S |
probably benign |
Het |
Lrrc57 |
A |
G |
2: 120,436,565 (GRCm39) |
L181P |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,119 (GRCm39) |
D190V |
probably benign |
Het |
Mroh5 |
A |
G |
15: 73,656,688 (GRCm39) |
F590L |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,936,103 (GRCm39) |
I381T |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,368,215 (GRCm39) |
K1169I |
possibly damaging |
Het |
Nop9 |
G |
A |
14: 55,990,757 (GRCm39) |
R563H |
probably damaging |
Het |
Obscn |
A |
T |
11: 59,013,457 (GRCm39) |
L1130Q |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,268 (GRCm39) |
S291R |
probably damaging |
Het |
Or2b2b |
A |
T |
13: 21,858,985 (GRCm39) |
M43K |
probably benign |
Het |
Pcgf1 |
T |
A |
6: 83,057,076 (GRCm39) |
H202Q |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,715,601 (GRCm39) |
L1883P |
probably benign |
Het |
Pde4b |
T |
C |
4: 102,458,994 (GRCm39) |
S505P |
probably damaging |
Het |
Pitpnm2 |
C |
A |
5: 124,259,375 (GRCm39) |
R1320L |
probably damaging |
Het |
Plscr4 |
C |
A |
9: 92,372,281 (GRCm39) |
|
probably benign |
Het |
Pot1a |
C |
T |
6: 25,744,629 (GRCm39) |
R625Q |
|
Het |
Pou4f1 |
A |
G |
14: 104,704,067 (GRCm39) |
S122P |
probably damaging |
Het |
Ppl |
A |
G |
16: 4,907,208 (GRCm39) |
V1029A |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,427,707 (GRCm39) |
F982L |
probably damaging |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Rbks |
A |
G |
5: 31,854,890 (GRCm39) |
V19A |
probably benign |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,902 (GRCm39) |
Y95C |
probably benign |
Het |
Rps20 |
A |
T |
4: 3,835,280 (GRCm39) |
D5E |
probably benign |
Het |
Sacs |
C |
A |
14: 61,447,751 (GRCm39) |
P3266T |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,175,507 (GRCm39) |
|
probably benign |
Het |
Slc28a2b |
A |
G |
2: 122,352,154 (GRCm39) |
T331A |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,194,484 (GRCm39) |
V1228A |
probably benign |
Het |
Trdv5 |
T |
C |
14: 54,386,258 (GRCm39) |
D69G |
probably damaging |
Het |
Treml4 |
G |
T |
17: 48,576,781 (GRCm39) |
G180C |
probably damaging |
Het |
|
Other mutations in Aoc1l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Aoc1l3
|
APN |
6 |
48,964,673 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01876:Aoc1l3
|
APN |
6 |
48,966,970 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01934:Aoc1l3
|
APN |
6 |
48,965,695 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03002:Aoc1l3
|
APN |
6 |
48,964,052 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03059:Aoc1l3
|
APN |
6 |
48,964,349 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03213:Aoc1l3
|
APN |
6 |
48,965,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03249:Aoc1l3
|
APN |
6 |
48,965,303 (GRCm39) |
missense |
probably benign |
|
IGL03365:Aoc1l3
|
APN |
6 |
48,965,531 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4280001:Aoc1l3
|
UTSW |
6 |
48,964,054 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4495001:Aoc1l3
|
UTSW |
6 |
48,964,710 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0010:Aoc1l3
|
UTSW |
6 |
48,965,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R0528:Aoc1l3
|
UTSW |
6 |
48,964,965 (GRCm39) |
missense |
probably benign |
|
R0784:Aoc1l3
|
UTSW |
6 |
48,964,235 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0959:Aoc1l3
|
UTSW |
6 |
48,965,566 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1173:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1174:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Aoc1l3
|
UTSW |
6 |
48,967,007 (GRCm39) |
nonsense |
probably null |
|
R3115:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R3116:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R3808:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3809:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3852:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4455:Aoc1l3
|
UTSW |
6 |
48,964,394 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4898:Aoc1l3
|
UTSW |
6 |
48,964,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4933:Aoc1l3
|
UTSW |
6 |
48,964,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Aoc1l3
|
UTSW |
6 |
48,965,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R5320:Aoc1l3
|
UTSW |
6 |
48,964,509 (GRCm39) |
missense |
probably benign |
0.02 |
R6053:Aoc1l3
|
UTSW |
6 |
48,965,422 (GRCm39) |
missense |
probably benign |
0.42 |
R6728:Aoc1l3
|
UTSW |
6 |
48,965,779 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6922:Aoc1l3
|
UTSW |
6 |
48,964,508 (GRCm39) |
missense |
probably damaging |
0.99 |
R7045:Aoc1l3
|
UTSW |
6 |
48,965,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7046:Aoc1l3
|
UTSW |
6 |
48,964,512 (GRCm39) |
missense |
probably benign |
0.11 |
R7137:Aoc1l3
|
UTSW |
6 |
48,967,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
R7874:Aoc1l3
|
UTSW |
6 |
48,965,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7993:Aoc1l3
|
UTSW |
6 |
48,964,542 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8238:Aoc1l3
|
UTSW |
6 |
48,966,975 (GRCm39) |
missense |
probably damaging |
0.96 |
R8807:Aoc1l3
|
UTSW |
6 |
48,965,188 (GRCm39) |
missense |
probably benign |
0.30 |
R9036:Aoc1l3
|
UTSW |
6 |
48,965,074 (GRCm39) |
small deletion |
probably benign |
|
R9350:Aoc1l3
|
UTSW |
6 |
48,965,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Aoc1l3
|
UTSW |
6 |
48,965,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
X0022:Aoc1l3
|
UTSW |
6 |
48,965,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAATTTCCCATGCCCATCAGC -3'
(R):5'- CACTGTCATAGTAGTGGATGGCG -3'
Sequencing Primer
(F):5'- TGCCCATCAGCAAGGGTG -3'
(R):5'- CCAGGAAGGTGGCTTCATG -3'
|
Posted On |
2021-11-19 |