Incidental Mutation 'IGL03005:Aoc1l1'
| ID |
407510 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 48953480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 468
(Y468*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090063
AA Change: Y468*
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: Y468*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.8e-26 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.5e-16 |
PFAM |
|
Pfam:Cu_amine_oxid
|
298 |
708 |
1.3e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184852
|
| SMART Domains |
Protein: ENSMUSP00000139236
Gene: ENSMUSG00000068536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu_amine_oxid
|
15 |
212 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184917
AA Change: Y468*
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: Y468*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.1e-21 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
3.1e-14 |
PFAM |
|
Pfam:Cu_amine_oxid
|
298 |
711 |
1.4e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204745
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
Het |
|
| Other mutations in Aoc1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Aoc1l1
|
APN |
6 |
48,955,065 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00985:Aoc1l1
|
APN |
6 |
48,954,481 (GRCm39) |
missense |
probably benign |
|
|
IGL01556:Aoc1l1
|
APN |
6 |
48,952,618 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02083:Aoc1l1
|
APN |
6 |
48,953,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Aoc1l1
|
APN |
6 |
48,952,498 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02744:Aoc1l1
|
APN |
6 |
48,952,249 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0306:Aoc1l1
|
UTSW |
6 |
48,953,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Aoc1l1
|
UTSW |
6 |
48,952,773 (GRCm39) |
missense |
probably benign |
|
|
R0598:Aoc1l1
|
UTSW |
6 |
48,952,471 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0948:Aoc1l1
|
UTSW |
6 |
48,953,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1432:Aoc1l1
|
UTSW |
6 |
48,952,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Aoc1l1
|
UTSW |
6 |
48,952,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Aoc1l1
|
UTSW |
6 |
48,952,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1625:Aoc1l1
|
UTSW |
6 |
48,952,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Aoc1l1
|
UTSW |
6 |
48,952,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1960:Aoc1l1
|
UTSW |
6 |
48,952,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Aoc1l1
|
UTSW |
6 |
48,952,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Aoc1l1
|
UTSW |
6 |
48,954,689 (GRCm39) |
nonsense |
probably null |
|
|
R2086:Aoc1l1
|
UTSW |
6 |
48,954,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Aoc1l1
|
UTSW |
6 |
48,952,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2145:Aoc1l1
|
UTSW |
6 |
48,953,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Aoc1l1
|
UTSW |
6 |
48,953,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Aoc1l1
|
UTSW |
6 |
48,952,891 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2973:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2974:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3125:Aoc1l1
|
UTSW |
6 |
48,952,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Aoc1l1
|
UTSW |
6 |
48,953,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Aoc1l1
|
UTSW |
6 |
48,953,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Aoc1l1
|
UTSW |
6 |
48,955,101 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4575:Aoc1l1
|
UTSW |
6 |
48,954,502 (GRCm39) |
nonsense |
probably null |
|
|
R4611:Aoc1l1
|
UTSW |
6 |
48,952,090 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4823:Aoc1l1
|
UTSW |
6 |
48,952,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Aoc1l1
|
UTSW |
6 |
48,952,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Aoc1l1
|
UTSW |
6 |
48,952,728 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5698:Aoc1l1
|
UTSW |
6 |
48,953,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5765:Aoc1l1
|
UTSW |
6 |
48,955,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Aoc1l1
|
UTSW |
6 |
48,953,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6061:Aoc1l1
|
UTSW |
6 |
48,953,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6268:Aoc1l1
|
UTSW |
6 |
48,954,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6564:Aoc1l1
|
UTSW |
6 |
48,954,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6640:Aoc1l1
|
UTSW |
6 |
48,954,605 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7131:Aoc1l1
|
UTSW |
6 |
48,953,306 (GRCm39) |
nonsense |
probably null |
|
|
R8678:Aoc1l1
|
UTSW |
6 |
48,953,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8932:Aoc1l1
|
UTSW |
6 |
48,952,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Aoc1l1
|
UTSW |
6 |
48,952,890 (GRCm39) |
missense |
probably benign |
|
|
R9280:Aoc1l1
|
UTSW |
6 |
48,955,116 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9386:Aoc1l1
|
UTSW |
6 |
48,952,324 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9492:Aoc1l1
|
UTSW |
6 |
48,955,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9630:Aoc1l1
|
UTSW |
6 |
48,952,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9654:Aoc1l1
|
UTSW |
6 |
48,952,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Aoc1l1
|
UTSW |
6 |
48,954,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2016-08-02 |
Incidental Mutation