Incidental Mutation 'R4903:Acox3'
| ID |
377934 |
| 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 |
042506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4903 (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 35747080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 166
(N166D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068563]
[ENSMUST00000068947]
[ENSMUST00000114237]
[ENSMUST00000114238]
[ENSMUST00000156125]
[ENSMUST00000202266]
|
| AlphaFold |
Q9EPL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068563
AA Change: N166D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: N166D
| 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: N166D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: N166D
| 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: N166D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: N166D
| 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 damaging
Transcript: ENSMUST00000114238
AA Change: N166D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: N166D
| 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 damaging
Transcript: ENSMUST00000202266
AA Change: N166D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: N166D
| 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 |
0.6112 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,037,827 (GRCm39) |
Y508H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,546,691 (GRCm39) |
L1347H |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,627,817 (GRCm39) |
I207M |
possibly damaging |
Het |
| Akna |
C |
A |
4: 63,292,274 (GRCm39) |
R1130S |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,743 (GRCm39) |
I194N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,176,558 (GRCm39) |
H1582L |
probably damaging |
Het |
| Atn1 |
G |
C |
6: 124,720,220 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
T |
C |
16: 8,478,864 (GRCm39) |
T130A |
probably damaging |
Het |
| Chrna3 |
T |
C |
9: 54,922,810 (GRCm39) |
T333A |
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,310,945 (GRCm39) |
I34L |
probably benign |
Het |
| Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
| Dars2 |
G |
C |
1: 160,878,941 (GRCm39) |
P362R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,894,812 (GRCm39) |
E3459G |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,771,437 (GRCm39) |
D188N |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,449,972 (GRCm39) |
R189* |
probably null |
Het |
| Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,163 (GRCm39) |
I51N |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,418,413 (GRCm39) |
I603V |
probably benign |
Het |
| Gm11564 |
A |
C |
11: 99,705,858 (GRCm39) |
C191G |
unknown |
Het |
| Gpatch8 |
A |
G |
11: 102,370,959 (GRCm39) |
S860P |
unknown |
Het |
| Gprin1 |
C |
G |
13: 54,885,742 (GRCm39) |
W844S |
probably damaging |
Het |
| Hhipl2 |
T |
A |
1: 183,207,698 (GRCm39) |
Y252* |
probably null |
Het |
| Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
G |
16: 22,779,901 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
C |
T |
8: 72,947,372 (GRCm39) |
A23V |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,252,436 (GRCm39) |
S129G |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,949,456 (GRCm39) |
E1579K |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,049,789 (GRCm39) |
I579N |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,832,482 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
C |
A |
9: 57,046,240 (GRCm39) |
Q465K |
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,994,235 (GRCm39) |
L1043Q |
probably null |
Het |
| Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,183 (GRCm39) |
S946P |
probably benign |
Het |
| Mrpl50 |
T |
C |
4: 49,514,488 (GRCm39) |
Y61C |
probably damaging |
Het |
| Myf5 |
A |
T |
10: 107,321,733 (GRCm39) |
C20* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,921 (GRCm39) |
K163R |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,383 (GRCm39) |
H53L |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,342 (GRCm39) |
I276L |
probably benign |
Het |
| Pcdhga9 |
C |
A |
18: 37,872,058 (GRCm39) |
T629K |
probably damaging |
Het |
| Pglyrp1 |
A |
G |
7: 18,624,128 (GRCm39) |
N137S |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,668 (GRCm39) |
Y6F |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,790,976 (GRCm39) |
V1057G |
probably benign |
Het |
| Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,532,093 (GRCm39) |
M586K |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,557,030 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
T |
17: 32,616,357 (GRCm39) |
C278Y |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
| Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,613,125 (GRCm39) |
K401E |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,378 (GRCm39) |
Y194H |
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,802,117 (GRCm39) |
Y585N |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
| Shbg |
C |
T |
11: 69,505,912 (GRCm39) |
S365N |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,730,925 (GRCm39) |
S65T |
probably damaging |
Het |
| Stk3 |
T |
C |
15: 34,959,212 (GRCm39) |
E320G |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,765,117 (GRCm39) |
H81Q |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,658,437 (GRCm39) |
W1470R |
probably damaging |
Het |
| Thada |
C |
A |
17: 84,559,828 (GRCm39) |
V1450L |
possibly damaging |
Het |
| Tmem241 |
A |
G |
18: 12,237,176 (GRCm39) |
S87P |
probably damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,194,117 (GRCm39) |
E192G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,853,065 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,367,962 (GRCm39) |
D35G |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,322 (GRCm39) |
V210A |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,747,201 (GRCm39) |
I680N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl4a |
T |
C |
18: 80,250,493 (GRCm39) |
F30L |
probably damaging |
Het |
| Ubac2 |
G |
T |
14: 122,231,650 (GRCm39) |
C192F |
probably benign |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,502 (GRCm39) |
T156A |
possibly damaging |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,578 (GRCm39) |
T175S |
probably benign |
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 |
|
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'- CCTCAGTACAAGGCATGCTTTC -3'
Sequencing Primer
(F):5'- ATGTCTCAGTCGTGCCATAG -3'
(R):5'- CTCAGTACAAGGCATGCTTTCAGTTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation