Incidental Mutation 'R4347:Acox1'
ID |
328376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acox1
|
Ensembl Gene |
ENSMUSG00000020777 |
Gene Name |
acyl-Coenzyme A oxidase 1, palmitoyl |
Synonyms |
Acyl-CoA oxidase, AOX, D130055E20Rik |
MMRRC Submission |
041102-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R4347 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116089487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 15
(N15S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021130]
[ENSMUST00000066587]
[ENSMUST00000072948]
|
AlphaFold |
Q9R0H0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021130
|
SMART Domains |
Protein: ENSMUSP00000021130 Gene: ENSMUSG00000020778
Domain | Start | End | E-Value | Type |
Pfam:Ten1_2
|
2 |
118 |
1.6e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066587
AA Change: N15S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000063325 Gene: ENSMUSG00000020777 AA Change: N15S
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_ox_N
|
15 |
133 |
4.4e-39 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
135 |
245 |
3e-13 |
PFAM |
SCOP:d1is2a1
|
272 |
460 |
1e-43 |
SMART |
Pfam:ACOX
|
479 |
659 |
6.4e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072948
AA Change: N15S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000072717 Gene: ENSMUSG00000020777 AA Change: N15S
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_ox_N
|
15 |
133 |
6.8e-38 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
135 |
195 |
1.3e-8 |
PFAM |
SCOP:d1is2a1
|
272 |
460 |
9e-44 |
SMART |
Pfam:ACOX
|
476 |
661 |
4.4e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124663
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146066
|
Meta Mutation Damage Score |
0.0800 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the acyl-coenzyme A oxidase family. The encoded protein is localized to peroxisomes and is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-coenzyme A to 2-trans-enoyl-coenzyme A. Disruption of this gene results in microvesicular steatohepatitis, spontaneous peroxisome proliferation, and the eventual development of hepatocellular carcinomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] PHENOTYPE: Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
C |
T |
11: 3,840,122 (GRCm39) |
V92M |
probably damaging |
Het |
4930503E14Rik |
C |
A |
14: 44,408,635 (GRCm39) |
R66S |
probably damaging |
Het |
Abca5 |
A |
T |
11: 110,190,794 (GRCm39) |
I772N |
probably damaging |
Het |
Arhgap28 |
C |
T |
17: 68,180,137 (GRCm39) |
V233I |
probably benign |
Het |
Chil4 |
T |
C |
3: 106,110,144 (GRCm39) |
I317V |
probably benign |
Het |
Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
Efl1 |
A |
T |
7: 82,347,174 (GRCm39) |
M567L |
probably damaging |
Het |
Gal3st2b |
C |
T |
1: 93,867,530 (GRCm39) |
T59I |
probably damaging |
Het |
Gm7135 |
T |
A |
1: 97,276,035 (GRCm39) |
|
noncoding transcript |
Het |
Gpihbp1 |
T |
G |
15: 75,470,017 (GRCm39) |
*124G |
probably null |
Het |
Igkv10-96 |
T |
A |
6: 68,609,164 (GRCm39) |
R44W |
probably benign |
Het |
Igkv13-84 |
T |
A |
6: 68,916,760 (GRCm39) |
I19K |
probably benign |
Het |
Kcnab1 |
A |
G |
3: 65,204,896 (GRCm39) |
|
probably benign |
Het |
Kif1b |
C |
A |
4: 149,331,691 (GRCm39) |
G545C |
probably damaging |
Het |
Mprip |
T |
C |
11: 59,650,279 (GRCm39) |
S1328P |
possibly damaging |
Het |
Nrp1 |
T |
C |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
Olfml1 |
C |
T |
7: 107,167,040 (GRCm39) |
P23L |
probably benign |
Het |
Plekhh2 |
G |
A |
17: 84,927,130 (GRCm39) |
A1457T |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,990,531 (GRCm39) |
I40V |
possibly damaging |
Het |
Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
Srek1 |
C |
T |
13: 103,885,267 (GRCm39) |
G396D |
probably null |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Trim3 |
C |
T |
7: 105,268,594 (GRCm39) |
G120D |
probably damaging |
Het |
Usp5 |
T |
A |
6: 124,798,158 (GRCm39) |
Q409L |
probably damaging |
Het |
Vim |
T |
G |
2: 13,580,329 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Acox1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Acox1
|
APN |
11 |
116,065,331 (GRCm39) |
splice site |
probably benign |
|
IGL02096:Acox1
|
APN |
11 |
116,069,024 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03128:Acox1
|
APN |
11 |
116,072,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0535:Acox1
|
UTSW |
11 |
116,065,264 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1718:Acox1
|
UTSW |
11 |
116,065,508 (GRCm39) |
nonsense |
probably null |
|
R1728:Acox1
|
UTSW |
11 |
116,089,109 (GRCm39) |
splice site |
probably null |
|
R1971:Acox1
|
UTSW |
11 |
116,089,087 (GRCm39) |
missense |
probably benign |
0.05 |
R3770:Acox1
|
UTSW |
11 |
116,065,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R4836:Acox1
|
UTSW |
11 |
116,066,152 (GRCm39) |
missense |
probably benign |
0.05 |
R5551:Acox1
|
UTSW |
11 |
116,080,317 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6662:Acox1
|
UTSW |
11 |
116,066,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R6685:Acox1
|
UTSW |
11 |
116,071,174 (GRCm39) |
nonsense |
probably null |
|
R7453:Acox1
|
UTSW |
11 |
116,071,787 (GRCm39) |
missense |
probably benign |
0.41 |
R7468:Acox1
|
UTSW |
11 |
116,069,001 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7750:Acox1
|
UTSW |
11 |
116,074,406 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8346:Acox1
|
UTSW |
11 |
116,069,099 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8798:Acox1
|
UTSW |
11 |
116,065,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Acox1
|
UTSW |
11 |
116,066,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Acox1
|
UTSW |
11 |
116,080,268 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9164:Acox1
|
UTSW |
11 |
116,089,173 (GRCm39) |
missense |
probably benign |
0.03 |
R9189:Acox1
|
UTSW |
11 |
116,065,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R9373:Acox1
|
UTSW |
11 |
116,065,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9668:Acox1
|
UTSW |
11 |
116,089,137 (GRCm39) |
nonsense |
probably null |
|
R9766:Acox1
|
UTSW |
11 |
116,071,867 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Acox1
|
UTSW |
11 |
116,074,371 (GRCm39) |
nonsense |
probably null |
|
Z1177:Acox1
|
UTSW |
11 |
116,065,891 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Acox1
|
UTSW |
11 |
116,065,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAACAGAGGACGTTCCCC -3'
(R):5'- ACCTTGCTTTCCTTGGCGAG -3'
Sequencing Primer
(F):5'- GAGGACGTTCCCCTCCTAATC -3'
(R):5'- TACCAGCGTCGGGGATTG -3'
|
Posted On |
2015-07-07 |