Incidental Mutation 'R7012:Acox3'
ID |
545068 |
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 |
045113-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7012 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35769431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 686
(F686L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000202266]
|
AlphaFold |
Q9EPL9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068563
|
SMART Domains |
Protein: ENSMUSP00000067178 Gene: ENSMUSG00000029098
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 benign
Transcript: ENSMUST00000068947
AA Change: F686L
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063412 Gene: ENSMUSG00000029098 AA Change: F686L
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 benign
Transcript: ENSMUST00000114237
AA Change: F686L
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109875 Gene: ENSMUSG00000029098 AA Change: F686L
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 benign
Transcript: ENSMUST00000114238
|
SMART Domains |
Protein: ENSMUSP00000109876 Gene: ENSMUSG00000029098
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 benign
Transcript: ENSMUST00000201106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202266
|
SMART Domains |
Protein: ENSMUSP00000144499 Gene: ENSMUSG00000029098
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 |
|
Meta Mutation Damage Score |
0.2046 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
C |
T |
14: 56,017,376 (GRCm39) |
V266I |
possibly damaging |
Het |
Adgrb1 |
A |
G |
15: 74,401,750 (GRCm39) |
T249A |
probably damaging |
Het |
Adss1 |
A |
G |
12: 112,600,670 (GRCm39) |
D213G |
probably benign |
Het |
Ap1b1 |
T |
G |
11: 4,980,963 (GRCm39) |
V453G |
probably damaging |
Het |
Apold1 |
G |
A |
6: 134,961,007 (GRCm39) |
G154R |
probably damaging |
Het |
Birc5 |
A |
G |
11: 117,740,262 (GRCm39) |
E29G |
probably benign |
Het |
Clcn1 |
G |
A |
6: 42,267,542 (GRCm39) |
R75H |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,984,583 (GRCm39) |
I868F |
possibly damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,223 (GRCm39) |
V215E |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
Col6a2 |
A |
T |
10: 76,450,511 (GRCm39) |
I140N |
possibly damaging |
Het |
Cops5 |
A |
G |
1: 10,100,890 (GRCm39) |
*147Q |
probably null |
Het |
Dbr1 |
T |
A |
9: 99,465,374 (GRCm39) |
Y317* |
probably null |
Het |
Dock5 |
A |
C |
14: 68,060,035 (GRCm39) |
V468G |
probably damaging |
Het |
F13b |
A |
G |
1: 139,444,096 (GRCm39) |
I477V |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Git1 |
T |
C |
11: 77,390,606 (GRCm39) |
L114P |
probably damaging |
Het |
Greb1l |
G |
T |
18: 10,529,707 (GRCm39) |
|
probably null |
Het |
Itih4 |
A |
G |
14: 30,612,706 (GRCm39) |
N244S |
probably benign |
Het |
Lin28a |
A |
G |
4: 133,746,040 (GRCm39) |
S5P |
probably damaging |
Het |
Lipt1 |
T |
C |
1: 37,915,060 (GRCm39) |
I372T |
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,875,765 (GRCm39) |
T143A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,406,914 (GRCm39) |
|
probably null |
Het |
Or13c9 |
A |
G |
4: 52,936,193 (GRCm39) |
L30P |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,823 (GRCm39) |
M283L |
probably benign |
Het |
Or5t16 |
A |
T |
2: 86,819,051 (GRCm39) |
H156Q |
possibly damaging |
Het |
Or6e1 |
A |
G |
14: 54,519,674 (GRCm39) |
I226T |
possibly damaging |
Het |
Pclo |
G |
A |
5: 14,800,493 (GRCm39) |
G4438D |
unknown |
Het |
Phlpp2 |
T |
A |
8: 110,603,486 (GRCm39) |
F51I |
possibly damaging |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 150,004,659 (GRCm39) |
V711A |
probably benign |
Het |
Sbno2 |
A |
T |
10: 79,905,352 (GRCm39) |
|
probably benign |
Het |
Setd2 |
T |
A |
9: 110,376,751 (GRCm39) |
S189T |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,868,621 (GRCm39) |
N965S |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 85,992,320 (GRCm39) |
N116S |
probably benign |
Het |
Slc43a3 |
T |
C |
2: 84,777,313 (GRCm39) |
Y221H |
probably damaging |
Het |
Slco1a6 |
T |
C |
6: 142,032,287 (GRCm39) |
I613V |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,295,871 (GRCm39) |
|
probably null |
Het |
Ston1 |
T |
C |
17: 88,943,413 (GRCm39) |
M273T |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,100,820 (GRCm39) |
Y53N |
probably damaging |
Het |
Tmem132b |
T |
A |
5: 125,775,654 (GRCm39) |
L376Q |
probably damaging |
Het |
Trim60 |
A |
G |
8: 65,453,043 (GRCm39) |
V402A |
possibly damaging |
Het |
Tssk5 |
A |
C |
15: 76,257,745 (GRCm39) |
N178K |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,844,982 (GRCm39) |
I450T |
possibly damaging |
Het |
Tyw1 |
T |
G |
5: 130,306,571 (GRCm39) |
|
probably null |
Het |
Usp16 |
T |
C |
16: 87,255,632 (GRCm39) |
|
probably null |
Het |
Vmn2r97 |
T |
C |
17: 19,167,756 (GRCm39) |
V670A |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,530 (GRCm39) |
N343D |
probably benign |
Het |
Zfp472 |
T |
G |
17: 33,196,220 (GRCm39) |
N98K |
probably benign |
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 |
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 |
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'- TGACAGTGGAGAATTTCCTGTTC -3'
(R):5'- TGTGCAAATCCCTCGCAAATAC -3'
Sequencing Primer
(F):5'- AGAATTTCCTGTTCTCGAGACG -3'
(R):5'- TACAACAGGCTGACCAGGGTC -3'
|
Posted On |
2019-05-13 |