Incidental Mutation 'IGL02554:Acox3'
| ID |
298413 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acox3
|
| Ensembl Gene |
ENSMUSG00000029098 |
| Gene Name |
acyl-Coenzyme A oxidase 3, pristanoyl |
| Synonyms |
EST-s59, PCOX, pristanoyl-CoA oxidase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35765710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 588
(L588I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000202266]
|
| AlphaFold |
Q9EPL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068563
AA Change: L588I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: L588I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_M
|
155 |
213 |
3e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
297 |
466 |
6e-9 |
PFAM |
|
Pfam:ACOX
|
507 |
662 |
5.2e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068947
AA Change: L588I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: L588I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_M
|
155 |
266 |
8.7e-18 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
297 |
466 |
5.5e-8 |
PFAM |
|
Pfam:ACOX
|
510 |
690 |
6.4e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114237
AA Change: L588I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: L588I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_M
|
155 |
213 |
5.7e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
297 |
466 |
9.4e-9 |
PFAM |
|
Pfam:ACOX
|
507 |
695 |
1.6e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114238
AA Change: L588I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: L588I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_M
|
198 |
309 |
1.4e-17 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
340 |
509 |
1.3e-7 |
PFAM |
|
Pfam:ACOX
|
553 |
707 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201659
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202266
AA Change: L588I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: L588I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_M
|
155 |
266 |
4.5e-18 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
297 |
466 |
3.2e-8 |
PFAM |
|
Pfam:ACOX
|
510 |
667 |
1.6e-45 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
| Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
| Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
| Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
Het |
|
| Other mutations in Acox3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Acox3
|
APN |
5 |
35,746,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02118:Acox3
|
APN |
5 |
35,758,865 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03377:Acox3
|
APN |
5 |
35,751,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Acox3
|
UTSW |
5 |
35,760,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Acox3
|
UTSW |
5 |
35,760,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Acox3
|
UTSW |
5 |
35,760,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Acox3
|
UTSW |
5 |
35,758,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1725:Acox3
|
UTSW |
5 |
35,749,516 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1763:Acox3
|
UTSW |
5 |
35,765,683 (GRCm39) |
splice site |
probably null |
|
|
R1851:Acox3
|
UTSW |
5 |
35,766,406 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1923:Acox3
|
UTSW |
5 |
35,749,459 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2154:Acox3
|
UTSW |
5 |
35,762,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Acox3
|
UTSW |
5 |
35,761,982 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2892:Acox3
|
UTSW |
5 |
35,751,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Acox3
|
UTSW |
5 |
35,757,192 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2894:Acox3
|
UTSW |
5 |
35,757,192 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2964:Acox3
|
UTSW |
5 |
35,762,611 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3431:Acox3
|
UTSW |
5 |
35,746,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3735:Acox3
|
UTSW |
5 |
35,768,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3736:Acox3
|
UTSW |
5 |
35,768,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4106:Acox3
|
UTSW |
5 |
35,758,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4107:Acox3
|
UTSW |
5 |
35,758,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4108:Acox3
|
UTSW |
5 |
35,758,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4579:Acox3
|
UTSW |
5 |
35,761,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Acox3
|
UTSW |
5 |
35,747,083 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4903:Acox3
|
UTSW |
5 |
35,747,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Acox3
|
UTSW |
5 |
35,769,450 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4964:Acox3
|
UTSW |
5 |
35,747,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Acox3
|
UTSW |
5 |
35,747,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Acox3
|
UTSW |
5 |
35,745,969 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5278:Acox3
|
UTSW |
5 |
35,745,500 (GRCm39) |
splice site |
probably benign |
|
|
R5569:Acox3
|
UTSW |
5 |
35,760,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5733:Acox3
|
UTSW |
5 |
35,762,543 (GRCm39) |
splice site |
probably null |
|
|
R5741:Acox3
|
UTSW |
5 |
35,765,668 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6530:Acox3
|
UTSW |
5 |
35,746,039 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6580:Acox3
|
UTSW |
5 |
35,765,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Acox3
|
UTSW |
5 |
35,746,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6848:Acox3
|
UTSW |
5 |
35,749,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7012:Acox3
|
UTSW |
5 |
35,769,431 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7233:Acox3
|
UTSW |
5 |
35,762,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7477:Acox3
|
UTSW |
5 |
35,749,447 (GRCm39) |
nonsense |
probably null |
|
|
R7837:Acox3
|
UTSW |
5 |
35,768,830 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7844:Acox3
|
UTSW |
5 |
35,764,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8799:Acox3
|
UTSW |
5 |
35,747,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Acox3
|
UTSW |
5 |
35,745,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation