Incidental Mutation 'R5170:Acox3'
ID |
397493 |
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 |
042750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5170 (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 35745969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 51
(I51V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000156125]
[ENSMUST00000202266]
|
AlphaFold |
Q9EPL9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068563
AA Change: I51V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000067178 Gene: ENSMUSG00000029098 AA Change: I51V
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: I51V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000063412 Gene: ENSMUSG00000029098 AA Change: I51V
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: I51V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000109875 Gene: ENSMUSG00000029098 AA Change: I51V
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
AA Change: I51V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109876 Gene: ENSMUSG00000029098 AA Change: I51V
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 |
noncoding transcript
Transcript: ENSMUST00000124643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127641
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156125
AA Change: I51V
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119216 Gene: ENSMUSG00000029098 AA Change: I51V
Domain | Start | End | E-Value | Type |
SCOP:d1is2a3
|
20 |
77 |
1e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202266
AA Change: I51V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000144499 Gene: ENSMUSG00000029098 AA Change: I51V
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
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 |
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 |
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'- CCCTGATGGTTCTGTAGGAC -3'
(R):5'- ATCAGCACTAGAATCTTCAGGGG -3'
Sequencing Primer
(F):5'- TTACCCCAGGATGGTCCCAG -3'
(R):5'- ACTAGAATCTTCAGGGGGTTCTTTAG -3'
|
Posted On |
2016-07-06 |