Incidental Mutation 'R5551:Acox1'
ID |
435140 |
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 |
043108-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R5551 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116062714-116089605 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116080317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 29
(S29P)
|
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 |
silent
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: ENSMUST00000124684
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148601
AA Change: S29P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122185 Gene: ENSMUSG00000020777 AA Change: S29P
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
Adamts1 |
A |
G |
16: 85,594,634 (GRCm39) |
I405T |
probably benign |
Het |
Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
C |
7: 125,419,249 (GRCm39) |
F472S |
probably damaging |
Het |
Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
Nfia |
G |
A |
4: 97,902,497 (GRCm39) |
E250K |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
Ssb |
A |
G |
2: 69,701,474 (GRCm39) |
K390E |
probably damaging |
Het |
Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
Tcirg1 |
A |
T |
19: 3,948,858 (GRCm39) |
F442L |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
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 |
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 |
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'- ATTGGGTTTTGATGCCACAAC -3'
(R):5'- GTGTAGCGCACAGTCTGTAG -3'
Sequencing Primer
(F):5'- TCCCAAACACATAGCAGCAGGAG -3'
(R):5'- GCACAGTCTGTAGCGGGAG -3'
|
Posted On |
2016-10-24 |