Incidental Mutation 'R2892:Acox3'
| ID |
260122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acox3
|
| Ensembl Gene |
ENSMUSG00000029098 |
| Gene Name |
acyl-Coenzyme A oxidase 3, pristanoyl |
| Synonyms |
EST-s59, PCOX, pristanoyl-CoA oxidase |
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35751661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 232
(D232G)
|
| 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: D232G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: D232G
| 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: D232G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: D232G
| 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: D232G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: D232G
| 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: D232G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: D232G
| 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: D232G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: D232G
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
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 |
|
IGL02554:Acox3
|
APN |
5 |
35,765,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGAGGTCTGTTTTCCAC -3'
(R):5'- TGGTACCTGCCACATCCATG -3'
Sequencing Primer
(F):5'- GTTTTCCACAGAAGGCCCC -3'
(R):5'- CTCCAGAGAGGGTGTGACAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation