Incidental Mutation 'R4862:Acox3'
ID |
374587 |
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 |
043260-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35747083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 167
(T167A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144499
(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: T167A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000067178 Gene: ENSMUSG00000029098 AA Change: T167A
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: T167A
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000063412 Gene: ENSMUSG00000029098 AA Change: T167A
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: T167A
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109875 Gene: ENSMUSG00000029098 AA Change: T167A
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: T167A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000109876 Gene: ENSMUSG00000029098 AA Change: T167A
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
|
SMART Domains |
Protein: ENSMUSP00000119216 Gene: ENSMUSG00000029098
Domain | Start | End | E-Value | Type |
SCOP:d1is2a3
|
20 |
77 |
1e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202266
AA Change: T167A
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144499 Gene: ENSMUSG00000029098 AA Change: T167A
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 |
0.1921 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
95% (40/42) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
probably 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 |
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'- GGAGTGGTATCCATGCGATG -3'
(R):5'- CAGTACAAGGCATGCTTTCAG -3'
Sequencing Primer
(F):5'- ATGTCTCAGTCGTGCCATAG -3'
(R):5'- ACAAGGCATGCTTTCAGTTGGC -3'
|
Posted On |
2016-03-17 |