Incidental Mutation 'IGL03377:Acox3'
| ID |
420536 |
| 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 # |
IGL03377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35751676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 237
(L237P)
|
| 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: L237P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: L237P
| 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: L237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: L237P
| 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: L237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: L237P
| 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: L237P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: L237P
| 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 |
probably damaging
Transcript: ENSMUST00000202266
AA Change: L237P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: L237P
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,096,256 (GRCm39) |
I489L |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,893,903 (GRCm39) |
I878S |
possibly damaging |
Het |
| Alox15 |
T |
A |
11: 70,240,488 (GRCm39) |
Y231F |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,238,700 (GRCm39) |
K342M |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,519 (GRCm39) |
I150M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,958 (GRCm39) |
Y822H |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,581,754 (GRCm39) |
Y628H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,449,056 (GRCm39) |
Y141N |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,116 (GRCm39) |
V166A |
probably damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,671,259 (GRCm39) |
A126T |
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,755 (GRCm39) |
E409G |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,678,456 (GRCm39) |
I621V |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,536,181 (GRCm39) |
|
probably null |
Het |
| Epha2 |
T |
A |
4: 141,049,723 (GRCm39) |
S776R |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,779,481 (GRCm39) |
E52V |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,381 (GRCm39) |
N18S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,968,597 (GRCm39) |
F460I |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,800,247 (GRCm39) |
I329N |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,783,848 (GRCm39) |
S254G |
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,489,478 (GRCm39) |
H688Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,890,937 (GRCm39) |
E898G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,019,021 (GRCm39) |
D368E |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,013,322 (GRCm39) |
H440L |
probably damaging |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,377 (GRCm39) |
D113V |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,727,964 (GRCm39) |
E554* |
probably null |
Het |
| Itpr2 |
A |
C |
6: 146,231,213 (GRCm39) |
V1182G |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,231,256 (GRCm39) |
T1135S |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,189,492 (GRCm39) |
I69T |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,345 (GRCm39) |
K354* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,127,339 (GRCm39) |
K159* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,529,369 (GRCm39) |
E2004G |
possibly damaging |
Het |
| Man2a2 |
A |
T |
7: 80,008,800 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,595,962 (GRCm39) |
F963L |
possibly damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,930,943 (GRCm39) |
E744G |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,028,644 (GRCm39) |
S140P |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,344,878 (GRCm39) |
F331L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,890,699 (GRCm39) |
G1798W |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,589 (GRCm39) |
V298D |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,353,341 (GRCm39) |
P110L |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,347,747 (GRCm39) |
|
probably null |
Het |
| Prdm5 |
A |
G |
6: 65,836,457 (GRCm39) |
H256R |
possibly damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,473 (GRCm39) |
Y267H |
probably damaging |
Het |
| Rfpl4 |
T |
G |
7: 5,113,464 (GRCm39) |
Y239S |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,846,953 (GRCm39) |
M592L |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,012 (GRCm39) |
H32L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,735 (GRCm39) |
T660S |
unknown |
Het |
| Slc26a2 |
T |
C |
18: 61,331,658 (GRCm39) |
N591S |
probably damaging |
Het |
| Slc9b2 |
C |
T |
3: 135,042,119 (GRCm39) |
A466V |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,180,492 (GRCm39) |
T637S |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,533,338 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,259,594 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,817 (GRCm39) |
M207V |
possibly damaging |
Het |
| Wdcp |
T |
G |
12: 4,900,691 (GRCm39) |
Y182* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,531,416 (GRCm39) |
T105A |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,913,168 (GRCm39) |
K30R |
possibly 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 |
|
IGL02554:Acox3
|
APN |
5 |
35,765,710 (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 |
2016-08-02 |
Incidental Mutation