Incidental Mutation 'PIT4280001:Aoc1l3'
| ID |
554408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l3
|
| Ensembl Gene |
ENSMUSG00000039215 |
| Gene Name |
amine oxidase copper containing 1-like 3 |
| Synonyms |
SVS I, Svs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
PIT4280001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48964054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 21
(M21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
| AlphaFold |
Q6WIZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037696
AA Change: M21L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: M21L
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.9%
- 10x: 85.5%
- 20x: 73.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,660 (GRCm39) |
D161G |
probably damaging |
Het |
| Acer2 |
C |
T |
4: 86,805,320 (GRCm39) |
L95F |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,251,285 (GRCm39) |
|
probably null |
Het |
| Bmi1 |
T |
A |
2: 18,687,820 (GRCm39) |
Y98* |
probably null |
Het |
| Cdon |
T |
C |
9: 35,398,231 (GRCm39) |
C983R |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,153,135 (GRCm39) |
V160I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,585,387 (GRCm39) |
R1297G |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,850 (GRCm39) |
M1132K |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,989,408 (GRCm39) |
R1267W |
possibly damaging |
Het |
| Dnah9 |
G |
A |
11: 65,895,839 (GRCm39) |
A2512V |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,439,831 (GRCm39) |
G175D |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 77,994,793 (GRCm39) |
W244L |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,889,576 (GRCm39) |
H343L |
probably benign |
Het |
| Fmnl2 |
G |
A |
2: 53,008,208 (GRCm39) |
A803T |
unknown |
Het |
| Fmnl3 |
A |
G |
15: 99,219,134 (GRCm39) |
|
probably null |
Het |
| Fth1 |
C |
A |
19: 9,961,973 (GRCm39) |
A104E |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,966,915 (GRCm39) |
Y45H |
probably damaging |
Het |
| Gm5157 |
C |
G |
7: 20,919,007 (GRCm39) |
G179R |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,234,941 (GRCm39) |
I463T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,356 (GRCm39) |
Y23H |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,761,046 (GRCm39) |
H647Y |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,062,148 (GRCm39) |
K436M |
probably benign |
Het |
| Lacc1 |
T |
A |
14: 77,272,517 (GRCm39) |
Q93L |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,119,217 (GRCm39) |
R801G |
probably damaging |
Het |
| Lrp2bp |
T |
G |
8: 46,476,048 (GRCm39) |
V263G |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,961,668 (GRCm39) |
K453N |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,700,039 (GRCm39) |
Y703F |
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,581,149 (GRCm39) |
T820A |
probably benign |
Het |
| Ndufa12 |
T |
C |
10: 94,034,994 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,290,063 (GRCm39) |
C150S |
possibly damaging |
Het |
| Noc4l |
G |
A |
5: 110,799,305 (GRCm39) |
T159I |
probably benign |
Het |
| Olfml2b |
T |
A |
1: 170,475,305 (GRCm39) |
C77S |
probably damaging |
Het |
| Or4c12 |
A |
T |
2: 89,774,087 (GRCm39) |
I124N |
probably damaging |
Het |
| Or9a4 |
C |
A |
6: 40,548,650 (GRCm39) |
T110K |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,399,374 (GRCm39) |
V784A |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,470 (GRCm39) |
Y369F |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,704,136 (GRCm39) |
I600N |
probably benign |
Het |
| Psg19 |
T |
C |
7: 18,530,831 (GRCm39) |
I108V |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,045,327 (GRCm39) |
V539M |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,227,023 (GRCm39) |
I23S |
probably benign |
Het |
| Rsbn1l |
T |
A |
5: 21,124,653 (GRCm39) |
H383L |
probably damaging |
Het |
| Scamp2 |
A |
T |
9: 57,488,076 (GRCm39) |
N118I |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,074 (GRCm39) |
V879A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,855,370 (GRCm39) |
E172K |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,349,419 (GRCm39) |
C214Y |
possibly damaging |
Het |
| Stag1 |
A |
G |
9: 100,824,769 (GRCm39) |
T922A |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,157,586 (GRCm39) |
H1307R |
probably damaging |
Het |
| Tut1 |
T |
G |
19: 8,936,626 (GRCm39) |
V150G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,255,789 (GRCm39) |
R1371W |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,487 (GRCm39) |
N394D |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,553,409 (GRCm39) |
T616A |
probably damaging |
Het |
| Zp3 |
G |
A |
5: 136,013,318 (GRCm39) |
V217M |
possibly 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 |
|
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 |
|
|
R9070:Aoc1l3
|
UTSW |
6 |
48,965,329 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- CTGGCTTCATCTGGACAAAGG -3'
(R):5'- TGGCCCCTTTATCTAGGAAAGC -3'
Sequencing Primer
(F):5'- CTTCATCTGGACAAAGGAAGGAGTTC -3'
(R):5'- TGGGCATCAGCATCTCAATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation