Incidental Mutation 'R6685:Acox1'
ID |
527657 |
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 |
044804-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R6685 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 116071174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 203
(Y203*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066587]
[ENSMUST00000072948]
[ENSMUST00000148601]
|
AlphaFold |
Q9R0H0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066587
AA Change: Y239*
|
SMART Domains |
Protein: ENSMUSP00000063325 Gene: ENSMUSG00000020777 AA Change: Y239*
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 null
Transcript: ENSMUST00000072948
AA Change: Y239*
|
SMART Domains |
Protein: ENSMUSP00000072717 Gene: ENSMUSG00000020777 AA Change: Y239*
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 null
Transcript: ENSMUST00000148601
AA Change: Y203*
|
SMART Domains |
Protein: ENSMUSP00000122185 Gene: ENSMUSG00000020777 AA Change: Y203*
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,099,586 (GRCm39) |
N712S |
possibly damaging |
Het |
Adgrb3 |
G |
A |
1: 25,150,817 (GRCm39) |
Q1139* |
probably null |
Het |
Casc3 |
A |
G |
11: 98,713,356 (GRCm39) |
K257E |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,868 (GRCm39) |
D125G |
possibly damaging |
Het |
Cttnbp2nl |
G |
T |
3: 104,912,814 (GRCm39) |
Q357K |
probably benign |
Het |
Dcst1 |
A |
C |
3: 89,264,180 (GRCm39) |
V345G |
possibly damaging |
Het |
Dsg3 |
G |
A |
18: 20,653,672 (GRCm39) |
|
probably null |
Het |
Ehbp1 |
A |
G |
11: 22,096,641 (GRCm39) |
C308R |
probably benign |
Het |
Etaa1 |
G |
T |
11: 17,903,582 (GRCm39) |
D71E |
probably benign |
Het |
Flg |
T |
C |
3: 93,186,716 (GRCm39) |
V56A |
possibly damaging |
Het |
Gpr162 |
A |
G |
6: 124,838,494 (GRCm39) |
L52P |
probably damaging |
Het |
Inhbb |
A |
G |
1: 119,345,335 (GRCm39) |
L318P |
probably damaging |
Het |
Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
Mcm8 |
G |
A |
2: 132,684,570 (GRCm39) |
R728Q |
probably damaging |
Het |
Metap1 |
A |
T |
3: 138,184,595 (GRCm39) |
F126I |
possibly damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,888 (GRCm39) |
|
probably null |
Het |
Peg10 |
T |
A |
6: 4,754,738 (GRCm39) |
V173E |
probably damaging |
Het |
Poteg |
T |
A |
8: 27,937,933 (GRCm39) |
F30I |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Sh3rf3 |
C |
T |
10: 58,922,663 (GRCm39) |
L580F |
possibly damaging |
Het |
Slc26a7 |
C |
A |
4: 14,593,819 (GRCm39) |
V99F |
probably damaging |
Het |
Slc26a7 |
A |
T |
4: 14,593,820 (GRCm39) |
H98Q |
probably damaging |
Het |
Slc9a2 |
A |
T |
1: 40,758,069 (GRCm39) |
I203F |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Txnrd3 |
G |
A |
6: 89,646,897 (GRCm39) |
V347I |
possibly damaging |
Het |
Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
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 |
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 |
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'- AAGCCCATCACCTTCTGCAG -3'
(R):5'- CAGGTAAGGATTGTTCATCTGATACC -3'
Sequencing Primer
(F):5'- ATCACCTTCTGCAGCTGGG -3'
(R):5'- ATCTTTCCAGAGGAACAGGGTTC -3'
|
Posted On |
2018-07-23 |