Incidental Mutation 'R7477:Acox3'
ID |
579538 |
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 |
045551-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7477 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35740293-35772397 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 35749447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 191
(E191*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000156125]
[ENSMUST00000202266]
|
AlphaFold |
Q9EPL9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068563
AA Change: E191*
|
SMART Domains |
Protein: ENSMUSP00000067178 Gene: ENSMUSG00000029098 AA Change: E191*
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 null
Transcript: ENSMUST00000068947
AA Change: E191*
|
SMART Domains |
Protein: ENSMUSP00000063412 Gene: ENSMUSG00000029098 AA Change: E191*
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 null
Transcript: ENSMUST00000114237
AA Change: E191*
|
SMART Domains |
Protein: ENSMUSP00000109875 Gene: ENSMUSG00000029098 AA Change: E191*
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 null
Transcript: ENSMUST00000114238
AA Change: E191*
|
SMART Domains |
Protein: ENSMUSP00000109876 Gene: ENSMUSG00000029098 AA Change: E191*
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 null
Transcript: ENSMUST00000202266
AA Change: E191*
|
SMART Domains |
Protein: ENSMUSP00000144499 Gene: ENSMUSG00000029098 AA Change: E191*
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 |
0.9702 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (66/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,022,107 (GRCm39) |
E461V |
probably damaging |
Het |
Adamtsl1 |
G |
A |
4: 86,333,888 (GRCm39) |
R1539Q |
probably damaging |
Het |
Adipor2 |
A |
T |
6: 119,338,883 (GRCm39) |
H123Q |
probably benign |
Het |
Akap13 |
C |
T |
7: 75,398,995 (GRCm39) |
S2691L |
probably benign |
Het |
Aldh1l1 |
T |
C |
6: 90,575,369 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,621,124 (GRCm39) |
S909R |
possibly damaging |
Het |
Bop1 |
T |
C |
15: 76,339,526 (GRCm39) |
E273G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,841,343 (GRCm39) |
H97Y |
probably damaging |
Het |
Casp14 |
T |
C |
10: 78,550,138 (GRCm39) |
N170S |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,798,555 (GRCm39) |
L382M |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,368,716 (GRCm39) |
Q1279H |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,410,811 (GRCm39) |
N432S |
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,483,929 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,916,208 (GRCm39) |
I691T |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,883,557 (GRCm39) |
I2562T |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,356,839 (GRCm39) |
I240F |
probably damaging |
Het |
Ell |
T |
C |
8: 71,037,868 (GRCm39) |
S308P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,469,489 (GRCm39) |
D26G |
|
Het |
Fam171a1 |
T |
C |
2: 3,226,676 (GRCm39) |
V603A |
probably benign |
Het |
Fam83e |
G |
A |
7: 45,378,404 (GRCm39) |
G476D |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,508,750 (GRCm39) |
|
probably null |
Het |
Fcer1a |
C |
T |
1: 173,048,851 (GRCm39) |
|
probably null |
Het |
Gpr179 |
G |
T |
11: 97,226,665 (GRCm39) |
T1830K |
possibly damaging |
Het |
Grin3a |
G |
A |
4: 49,719,278 (GRCm39) |
P823S |
probably damaging |
Het |
Heatr4 |
T |
A |
12: 84,026,604 (GRCm39) |
I218F |
probably damaging |
Het |
Il36rn |
T |
A |
2: 24,169,704 (GRCm39) |
Y21* |
probably null |
Het |
Jakmip1 |
A |
G |
5: 37,330,915 (GRCm39) |
T532A |
probably benign |
Het |
Klf11 |
A |
G |
12: 24,703,562 (GRCm39) |
D16G |
probably benign |
Het |
Lrp1 |
T |
A |
10: 127,404,789 (GRCm39) |
I1971F |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,550,301 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,696,528 (GRCm39) |
L2439F |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
Mapk14 |
G |
A |
17: 28,964,052 (GRCm39) |
D313N |
probably damaging |
Het |
Max |
A |
T |
12: 76,999,960 (GRCm39) |
S52T |
probably benign |
Het |
Mrpl23 |
A |
G |
7: 142,091,018 (GRCm39) |
R80G |
possibly damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,019 (GRCm39) |
N3186K |
possibly damaging |
Het |
Mylk2 |
G |
A |
2: 152,762,261 (GRCm39) |
V511I |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,961,500 (GRCm39) |
M1031V |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
Ncbp1 |
A |
T |
4: 46,157,897 (GRCm39) |
E378D |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,956 (GRCm39) |
D174E |
probably benign |
Het |
Nid2 |
T |
A |
14: 19,856,041 (GRCm39) |
D1255E |
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,782,675 (GRCm39) |
C261R |
probably damaging |
Het |
Or5w22 |
A |
G |
2: 87,362,431 (GRCm39) |
N18S |
probably benign |
Het |
Pgam1 |
T |
A |
19: 41,905,255 (GRCm39) |
H196Q |
probably damaging |
Het |
Pja2 |
A |
C |
17: 64,616,640 (GRCm39) |
V85G |
possibly damaging |
Het |
Pkd2 |
G |
A |
5: 104,631,108 (GRCm39) |
V511M |
probably benign |
Het |
Ppp2cb |
T |
A |
8: 34,105,502 (GRCm39) |
S171T |
probably benign |
Het |
Prkab2 |
T |
C |
3: 97,566,063 (GRCm39) |
F45S |
probably damaging |
Het |
Rabep2 |
A |
T |
7: 126,043,990 (GRCm39) |
|
probably null |
Het |
Rnf41 |
T |
A |
10: 128,271,303 (GRCm39) |
I71N |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,588,787 (GRCm39) |
P287S |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,321,808 (GRCm39) |
D25G |
probably benign |
Het |
Sptb |
A |
T |
12: 76,675,339 (GRCm39) |
L225Q |
probably damaging |
Het |
Tenm4 |
A |
C |
7: 96,495,015 (GRCm39) |
I1148L |
probably damaging |
Het |
Tnk2 |
C |
A |
16: 32,496,709 (GRCm39) |
|
probably null |
Het |
Trank1 |
G |
A |
9: 111,194,025 (GRCm39) |
S683N |
probably benign |
Het |
Trp53bp1 |
A |
C |
2: 121,066,827 (GRCm39) |
V633G |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,479 (GRCm39) |
K182E |
possibly damaging |
Het |
Uncx |
A |
T |
5: 139,533,017 (GRCm39) |
T361S |
probably benign |
Het |
Vmn2r11 |
A |
T |
5: 109,207,214 (GRCm39) |
N35K |
possibly damaging |
Het |
Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,399,060 (GRCm39) |
V640M |
probably damaging |
Het |
Washc4 |
T |
C |
10: 83,410,307 (GRCm39) |
Y632H |
probably damaging |
Het |
Xkr6 |
T |
C |
14: 63,844,129 (GRCm39) |
S51P |
possibly damaging |
Het |
Zer1 |
C |
A |
2: 29,997,988 (GRCm39) |
K408N |
probably null |
Het |
Znhit2 |
A |
G |
19: 6,112,501 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- ACATAAAGTCAGCTTGGCCCAC -3'
(R):5'- CTGGAACTAAAGCGTGCTGC -3'
Sequencing Primer
(F):5'- CACAGGAAATACAGTGCTCAGTC -3'
(R):5'- CTGCAGGAAGCTGAGACTC -3'
|
Posted On |
2019-10-07 |