Incidental Mutation 'IGL02744:Aoc1l1'
| ID |
306020 |
| 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 # |
IGL02744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48952249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 58
(E58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090063
AA Change: E58G
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: E58G
| 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 benign
Transcript: ENSMUST00000184917
AA Change: E58G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: E58G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
A |
G |
3: 104,985,852 (GRCm39) |
M89V |
unknown |
Het |
| Actl11 |
C |
A |
9: 107,807,061 (GRCm39) |
H461Q |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,711 (GRCm39) |
R973S |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,807,279 (GRCm39) |
S713T |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,255,848 (GRCm39) |
I458V |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,140,613 (GRCm39) |
I168T |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,788,471 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm8206 |
T |
C |
14: 6,022,488 (GRCm38) |
I4V |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,908,486 (GRCm39) |
S713P |
probably damaging |
Het |
| Ing5 |
T |
C |
1: 93,744,210 (GRCm39) |
M172T |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,738,808 (GRCm39) |
T27A |
probably benign |
Het |
| Or2b28 |
A |
G |
13: 21,531,164 (GRCm39) |
Y22C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,820,311 (GRCm39) |
V40A |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,493 (GRCm39) |
L358Q |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Psg18 |
T |
A |
7: 18,083,327 (GRCm39) |
Q276L |
probably benign |
Het |
| Ralgapb |
A |
C |
2: 158,288,071 (GRCm39) |
Q369H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,146,776 (GRCm39) |
N300D |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,253,894 (GRCm39) |
E610V |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,878,954 (GRCm39) |
V480A |
possibly damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,340 (GRCm39) |
T103I |
possibly damaging |
Het |
| Spg7 |
T |
C |
8: 123,820,400 (GRCm39) |
F617S |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,133,838 (GRCm39) |
D863G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suox |
T |
C |
10: 128,507,086 (GRCm39) |
E314G |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,136,658 (GRCm39) |
K1276* |
probably null |
Het |
| Tmem72 |
A |
G |
6: 116,672,451 (GRCm39) |
L130P |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,373,778 (GRCm39) |
Y345C |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,914 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
G |
A |
7: 125,707,620 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,751,234 (GRCm39) |
Y512F |
possibly damaging |
Het |
| Zfp438 |
A |
T |
18: 5,214,760 (GRCm39) |
M66K |
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 |
|
IGL03005:Aoc1l1
|
APN |
6 |
48,953,480 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation