Incidental Mutation 'IGL02096:Acox1'
| ID |
281127 |
| 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: 0.323)
|
| Stock # |
IGL02096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116069024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 371
(I371N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066587]
[ENSMUST00000072948]
[ENSMUST00000148601]
|
| AlphaFold |
Q9R0H0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066587
AA Change: I407N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: I407N
| 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 damaging
Transcript: ENSMUST00000072948
AA Change: I407N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: I407N
| 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: ENSMUST00000128793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130229
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148601
AA Change: I371N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: I371N
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,993,359 (GRCm39) |
L1584P |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,056,806 (GRCm39) |
H5N |
probably benign |
Het |
| Aopep |
C |
A |
13: 63,208,903 (GRCm39) |
A340E |
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,805,833 (GRCm39) |
N445S |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,568,927 (GRCm39) |
A999E |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,394 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,308,349 (GRCm39) |
E2134G |
possibly damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,062 (GRCm39) |
N698S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,174,655 (GRCm39) |
K1271M |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,470 (GRCm39) |
T532A |
probably benign |
Het |
| Epx |
A |
T |
11: 87,760,294 (GRCm39) |
L440Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,699,791 (GRCm39) |
F432L |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,630,341 (GRCm39) |
P59Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,204 (GRCm39) |
D5979G |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,284 (GRCm39) |
Q1262L |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,598,256 (GRCm39) |
V652E |
probably benign |
Het |
| Iapp |
A |
T |
6: 142,249,199 (GRCm39) |
N84I |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,413,993 (GRCm39) |
C379Y |
probably benign |
Het |
| Mmp17 |
C |
T |
5: 129,675,752 (GRCm39) |
Q304* |
probably null |
Het |
| Mpl |
T |
C |
4: 118,314,333 (GRCm39) |
T55A |
possibly damaging |
Het |
| Mst1r |
G |
A |
9: 107,794,478 (GRCm39) |
R1219H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,117 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,831,915 (GRCm39) |
V120I |
probably benign |
Het |
| Nt5dc1 |
A |
T |
10: 34,275,806 (GRCm39) |
C134* |
probably null |
Het |
| Obscn |
A |
C |
11: 58,971,530 (GRCm39) |
N2228K |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Osbpl10 |
T |
C |
9: 115,046,062 (GRCm39) |
M566T |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,886,267 (GRCm39) |
V466I |
probably benign |
Het |
| Pdcd11 |
T |
G |
19: 47,094,860 (GRCm39) |
V548G |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,263,951 (GRCm39) |
K212N |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,297,789 (GRCm39) |
S399T |
probably damaging |
Het |
| Rgs19 |
A |
G |
2: 181,331,076 (GRCm39) |
S159P |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,465 (GRCm39) |
S449P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,820,870 (GRCm39) |
Y238F |
probably benign |
Het |
| Stx11 |
T |
C |
10: 12,817,224 (GRCm39) |
I167V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,371 (GRCm39) |
M300V |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,040,628 (GRCm39) |
T235A |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,214,749 (GRCm39) |
I261N |
probably damaging |
Het |
| Vmn2r43 |
G |
A |
7: 8,260,512 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,443 (GRCm39) |
M454T |
probably damaging |
Het |
| Vsig2 |
T |
A |
9: 37,451,251 (GRCm39) |
S51T |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,964 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
A |
C |
9: 108,453,752 (GRCm39) |
L44V |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,165,634 (GRCm39) |
Y5H |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,796 (GRCm39) |
Y587H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,254 (GRCm39) |
K399N |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation