Incidental Mutation 'R6848:Acox3'
| ID |
534850 |
| 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 |
045022-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35749528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 218
(G218C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000156125]
[ENSMUST00000202266]
|
| AlphaFold |
Q9EPL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068563
AA Change: G218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: G218C
| 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: G218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: G218C
| 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: G218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: G218C
| 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: G218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: G218C
| 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: ENSMUST00000156125
|
| SMART Domains |
Protein: ENSMUSP00000119216
Gene: ENSMUSG00000029098
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1is2a3
|
20 |
77 |
1e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202266
AA Change: G218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: G218C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| Acap1 |
T |
C |
11: 69,775,487 (GRCm39) |
N290S |
probably damaging |
Het |
| Acsf3 |
G |
A |
8: 123,517,329 (GRCm39) |
G375D |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,840,335 (GRCm39) |
N568K |
possibly damaging |
Het |
| Akr1cl |
G |
A |
1: 65,063,928 (GRCm39) |
T87I |
probably damaging |
Het |
| Brcc3dc |
A |
T |
10: 108,535,451 (GRCm39) |
V168E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Casp16 |
A |
T |
17: 23,770,053 (GRCm39) |
C175* |
probably null |
Het |
| Cast |
T |
C |
13: 74,844,052 (GRCm39) |
K694R |
possibly damaging |
Het |
| Cep70 |
G |
A |
9: 99,144,954 (GRCm39) |
R100H |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,186,395 (GRCm39) |
A259T |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,820,785 (GRCm39) |
M340K |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,220,608 (GRCm39) |
S182P |
probably benign |
Het |
| Crlf2 |
A |
C |
5: 109,704,897 (GRCm39) |
F103V |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,159,632 (GRCm39) |
N652S |
probably benign |
Het |
| Ephx4 |
G |
A |
5: 107,574,784 (GRCm39) |
G274D |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,298,601 (GRCm39) |
F517I |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
| Gata3 |
T |
A |
2: 9,863,339 (GRCm39) |
N392Y |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,793,822 (GRCm39) |
V79M |
probably damaging |
Het |
| Grk3 |
A |
C |
5: 113,133,641 (GRCm39) |
N60K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,927 (GRCm39) |
I155R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,323,329 (GRCm39) |
L681P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,648,685 (GRCm39) |
M789T |
probably benign |
Het |
| Kit |
A |
T |
5: 75,767,872 (GRCm39) |
Q85L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,355,750 (GRCm39) |
C325* |
probably null |
Het |
| Mcidas |
A |
G |
13: 113,130,419 (GRCm39) |
E5G |
probably benign |
Het |
| Mcm5 |
G |
T |
8: 75,853,918 (GRCm39) |
R724L |
possibly damaging |
Het |
| Nrbp2 |
G |
A |
15: 75,963,332 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,308,084 (GRCm39) |
I655T |
probably damaging |
Het |
| Nsun4 |
T |
C |
4: 115,910,131 (GRCm39) |
D143G |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,615 (GRCm39) |
V349M |
probably damaging |
Het |
| Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
| Or5d47 |
A |
T |
2: 87,804,514 (GRCm39) |
V165E |
possibly damaging |
Het |
| Or6d14 |
T |
C |
6: 116,533,736 (GRCm39) |
S117P |
probably damaging |
Het |
| Pank2 |
C |
A |
2: 131,124,546 (GRCm39) |
L297I |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,704,690 (GRCm39) |
E870V |
probably benign |
Het |
| Pdcd6 |
T |
A |
13: 74,457,959 (GRCm39) |
M71L |
possibly damaging |
Het |
| Phkb |
A |
T |
8: 86,756,246 (GRCm39) |
I847F |
probably damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Pwp2 |
C |
G |
10: 78,020,127 (GRCm39) |
|
probably null |
Het |
| Rbms3 |
A |
G |
9: 117,080,809 (GRCm39) |
Y21H |
probably damaging |
Het |
| Rhbdl1 |
T |
A |
17: 26,055,158 (GRCm39) |
K17* |
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,265,667 (GRCm39) |
Q418K |
possibly damaging |
Het |
| Scpppq1 |
A |
G |
5: 104,222,603 (GRCm39) |
|
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,898,615 (GRCm39) |
V159E |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,849,777 (GRCm39) |
T784A |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,551,544 (GRCm39) |
M279T |
probably damaging |
Het |
| Tmem163 |
A |
T |
1: 127,479,117 (GRCm39) |
V134D |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,409,958 (GRCm38) |
N875S |
possibly damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,853 (GRCm39) |
E205G |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,586,802 (GRCm39) |
Y271* |
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,280,138 (GRCm39) |
|
probably null |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,840 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp740 |
T |
G |
15: 102,117,243 (GRCm39) |
I89S |
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 |
|
|
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'- TGTGGAGGGAAAGCCATTC -3'
(R):5'- GTAAAGACAGGCCTGTTGGG -3'
Sequencing Primer
(F):5'- GGGAAAGCCATTCTCTGGTCCC -3'
(R):5'- AGACTCTAGCAGGACTGTGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation