Incidental Mutation 'R4106:Acox3'
| ID |
321385 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4106 (G1)
|
| Quality Score |
193 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35758896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 369
(F369S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000202266]
|
| AlphaFold |
Q9EPL9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068563
AA Change: F369S
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: F369S
| 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: F369S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: F369S
| 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: F369S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: F369S
| 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 |
possibly damaging
Transcript: ENSMUST00000114238
AA Change: F369S
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: F369S
| 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 damaging
Transcript: ENSMUST00000202266
AA Change: F369S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: F369S
| 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 |
0.8009 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,310,324 (GRCm39) |
I1461V |
possibly damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,261,579 (GRCm39) |
V107G |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,459 (GRCm39) |
D397G |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,019 (GRCm39) |
T183A |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,328,370 (GRCm39) |
S38P |
possibly damaging |
Het |
| Mapkapk3 |
A |
G |
9: 107,134,265 (GRCm39) |
V333A |
probably damaging |
Het |
| Muc5ac |
T |
G |
7: 141,356,572 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
| Nnt |
T |
C |
13: 119,533,327 (GRCm39) |
I113V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,817 (GRCm39) |
C171S |
possibly damaging |
Het |
| Rpl10a |
T |
A |
17: 28,549,933 (GRCm39) |
Y205N |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
| Sertad4 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
1: 192,529,050 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,219,047 (GRCm39) |
K97E |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,874 (GRCm39) |
Q72R |
probably benign |
Het |
| St8sia2 |
A |
C |
7: 73,610,509 (GRCm39) |
L258R |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,861,673 (GRCm39) |
V352A |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,040,617 (GRCm39) |
Y293H |
possibly damaging |
Het |
| Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
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 |
|
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'- CCTGTCTGGGACTACATTGG -3'
(R):5'- CTGCAAGTCATTGGGCAAGC -3'
Sequencing Primer
(F):5'- GGACTACATTGGCACCAGGTATTC -3'
(R):5'- CTAAAGGAATTCACCCAGGCTCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation