Incidental Mutation 'R6662:Acox1'
ID |
528031 |
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 |
044782-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R6662 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116066149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 418
(Y418H)
|
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: Y454H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063325 Gene: ENSMUSG00000020777 AA Change: Y454H
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: Y454H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072717 Gene: ENSMUSG00000020777 AA Change: Y454H
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: Y418H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122185 Gene: ENSMUSG00000020777 AA Change: Y418H
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
|
Meta Mutation Damage Score |
0.7760 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,105,481 (GRCm39) |
V196I |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
Cfap45 |
T |
C |
1: 172,357,417 (GRCm39) |
I15T |
probably benign |
Het |
Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,389,844 (GRCm39) |
D206E |
probably damaging |
Het |
Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
Slco1a6 |
G |
A |
6: 142,078,941 (GRCm39) |
T118I |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
Zfp786 |
T |
C |
6: 47,803,920 (GRCm39) |
N41D |
probably damaging |
Het |
Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
probably 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 |
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'- GCTGAGAAACCCATGGTTCTCAC -3'
(R):5'- TGACTCTAGCTGTATCAAGTTGAC -3'
Sequencing Primer
(F):5'- ATGGTTCTCACAGCTGACCTGG -3'
(R):5'- CATGAATTTAGCCAGGATAGCAC -3'
|
Posted On |
2018-07-24 |