Incidental Mutation 'R4107:Acox3'
ID |
321421 |
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 |
040986-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4107 (G1)
|
Quality Score |
204 |
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: 97.5%
- 20x: 95.8%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,293,720 (GRCm39) |
V504M |
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,879,628 (GRCm39) |
L480P |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cox5b-ps |
T |
C |
13: 21,685,507 (GRCm39) |
T28A |
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
Enc1 |
C |
A |
13: 97,381,646 (GRCm39) |
A52E |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,064,670 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
T |
G |
2: 79,475,175 (GRCm39) |
L378R |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,503,918 (GRCm39) |
S3797P |
possibly damaging |
Het |
Kntc1 |
T |
A |
5: 123,900,661 (GRCm39) |
I253N |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mta3 |
A |
G |
17: 84,070,343 (GRCm39) |
D16G |
probably benign |
Het |
Nlrp4f |
C |
A |
13: 65,330,879 (GRCm39) |
C838F |
probably benign |
Het |
Or5aq7 |
T |
A |
2: 86,937,999 (GRCm39) |
H244L |
probably damaging |
Het |
Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
Reln |
C |
A |
5: 22,239,582 (GRCm39) |
C895F |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,542 (GRCm39) |
T353A |
probably benign |
Het |
Rpusd4 |
T |
C |
9: 35,186,424 (GRCm39) |
L320P |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Stbd1 |
A |
G |
5: 92,753,139 (GRCm39) |
R210G |
probably benign |
Het |
Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Trim68 |
G |
T |
7: 102,327,658 (GRCm39) |
H432N |
probably benign |
Het |
Ttn |
T |
C |
2: 76,569,485 (GRCm39) |
Q18809R |
probably damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,153 (GRCm39) |
I203T |
possibly damaging |
Het |
Zfp407 |
T |
A |
18: 84,361,132 (GRCm39) |
T1721S |
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 |
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 |
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'- TCTGGGACTACATTGGCACC -3'
(R):5'- CAAACTGCAAGTCATTGGGCAAG -3'
Sequencing Primer
(F):5'- GGACTACATTGGCACCAGGTATTC -3'
(R):5'- CTAAAGGAATTCACCCAGGCTCTG -3'
|
Posted On |
2015-06-12 |