Incidental Mutation 'R3735:Acox3'
| ID |
473282 |
| 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 |
040722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3735 (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 35768497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 686
(K686R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000202266]
|
| AlphaFold |
Q9EPL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068563
AA Change: K686R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: K686R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
| 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: ENSMUST00000154796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202266
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
G |
4: 103,123,603 (GRCm39) |
E90Q |
probably damaging |
Het |
| Acadl |
G |
A |
1: 66,892,448 (GRCm39) |
A125V |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,375,413 (GRCm39) |
D802G |
probably benign |
Het |
| Aoc3 |
A |
T |
11: 101,223,045 (GRCm39) |
D427V |
probably damaging |
Het |
| Bivm |
C |
T |
1: 44,165,594 (GRCm39) |
H15Y |
probably benign |
Het |
| C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
| Cdca7 |
T |
A |
2: 72,314,209 (GRCm39) |
|
probably null |
Het |
| Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,735 (GRCm39) |
S298P |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
| Dcaf10 |
C |
T |
4: 45,348,117 (GRCm39) |
T191I |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,325,829 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,339,035 (GRCm39) |
T3361I |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,822,248 (GRCm39) |
T721I |
possibly damaging |
Het |
| F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
| Fam169b |
G |
T |
7: 68,000,049 (GRCm39) |
R198S |
probably damaging |
Het |
| Gm7694 |
A |
G |
1: 170,130,330 (GRCm39) |
S23P |
probably damaging |
Het |
| Grk3 |
T |
A |
5: 113,101,697 (GRCm39) |
T248S |
probably benign |
Het |
| Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
| Ido2 |
C |
T |
8: 25,025,209 (GRCm39) |
V273M |
probably damaging |
Het |
| Il12rb1 |
T |
C |
8: 71,269,862 (GRCm39) |
L518P |
probably damaging |
Het |
| Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,840,409 (GRCm39) |
V297A |
possibly damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,533 (GRCm39) |
Y349C |
possibly damaging |
Het |
| Krt18 |
A |
G |
15: 101,936,936 (GRCm39) |
T75A |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,328,716 (GRCm39) |
I1539F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,973,683 (GRCm39) |
V458A |
probably benign |
Het |
| Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
| Med13 |
A |
C |
11: 86,170,484 (GRCm39) |
M1850R |
probably benign |
Het |
| Mfsd13a |
A |
G |
19: 46,356,767 (GRCm39) |
Y256C |
probably damaging |
Het |
| Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
| Myo9b |
T |
C |
8: 71,801,241 (GRCm39) |
V1133A |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,119,676 (GRCm39) |
H144L |
probably benign |
Het |
| Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
| Nkx1-1 |
C |
T |
5: 33,591,074 (GRCm39) |
V83I |
unknown |
Het |
| Npy4r |
T |
A |
14: 33,869,226 (GRCm39) |
T21S |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,847,018 (GRCm39) |
S331P |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,241 (GRCm39) |
H131L |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,735,390 (GRCm39) |
Y131* |
probably null |
Het |
| Pgr |
G |
A |
9: 8,901,534 (GRCm39) |
G356S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,860,929 (GRCm39) |
E787G |
probably damaging |
Het |
| Prpf18 |
A |
G |
2: 4,648,484 (GRCm39) |
I114T |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,300,879 (GRCm39) |
I280N |
probably benign |
Het |
| Rims4 |
T |
C |
2: 163,705,905 (GRCm39) |
D243G |
possibly damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
| Rpap2 |
T |
C |
5: 107,803,017 (GRCm39) |
|
probably benign |
Het |
| Sdr16c5 |
G |
A |
4: 4,005,614 (GRCm39) |
T240I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,649,569 (GRCm39) |
Y466* |
probably null |
Het |
| Slco3a1 |
A |
G |
7: 74,154,245 (GRCm39) |
I80T |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
| Stam |
A |
T |
2: 14,133,823 (GRCm39) |
Q190L |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,511,843 (GRCm39) |
V283A |
probably damaging |
Het |
| Tln1 |
G |
T |
4: 43,549,370 (GRCm39) |
A616E |
probably damaging |
Het |
| Trdmt1 |
A |
T |
2: 13,524,684 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,709,456 (GRCm39) |
I298T |
possibly damaging |
Het |
| Tti2 |
T |
C |
8: 31,645,925 (GRCm39) |
L413P |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,354,228 (GRCm39) |
V343A |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,565,576 (GRCm39) |
W288L |
probably damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,950 (GRCm39) |
|
probably benign |
Het |
| Zfp873 |
G |
A |
10: 81,897,015 (GRCm39) |
S582N |
probably benign |
Het |
| Zfp979 |
A |
G |
4: 147,697,939 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation