Incidental Mutation 'IGL00594:Acox1'
| ID |
4466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acox1
|
| Ensembl Gene |
ENSMUSG00000020777 |
| Gene Name |
acyl-Coenzyme A oxidase 1, palmitoyl |
| Synonyms |
Acyl-CoA oxidase, AOX, D130055E20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 116065331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066587]
[ENSMUST00000072948]
[ENSMUST00000148601]
|
| AlphaFold |
Q9R0H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066587
|
| SMART Domains |
Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
| 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
|
| SMART Domains |
Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
| 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: ENSMUST00000130229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148601
|
| SMART Domains |
Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_ox_N
|
48 |
97 |
9.7e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
99 |
159 |
7.3e-9 |
PFAM |
|
SCOP:d1is2a1
|
236 |
424 |
4e-44 |
SMART |
|
Pfam:ACOX
|
440 |
625 |
1.7e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150549
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Acox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4347:Acox1
|
UTSW |
11 |
116,089,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation