Incidental Mutation 'R3032:Acox2'
ID |
264758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acox2
|
Ensembl Gene |
ENSMUSG00000021751 |
Gene Name |
acyl-Coenzyme A oxidase 2, branched chain |
Synonyms |
|
MMRRC Submission |
040548-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R3032 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
14210420-14244262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8253466 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 227
(L227Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022271]
[ENSMUST00000164598]
[ENSMUST00000170534]
|
AlphaFold |
Q9QXD1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022271
AA Change: L227Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022271 Gene: ENSMUSG00000021751 AA Change: L227Q
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_ox_N
|
32 |
148 |
1.2e-28 |
PFAM |
SCOP:d1is2a1
|
309 |
478 |
1e-28 |
SMART |
Pfam:ACOX
|
492 |
677 |
3.2e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164412
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164598
AA Change: L227Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126464 Gene: ENSMUSG00000021751 AA Change: L227Q
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_ox_N
|
32 |
148 |
6.3e-29 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
150 |
260 |
2.8e-11 |
PFAM |
SCOP:d1is2a1
|
309 |
478 |
1e-28 |
SMART |
Pfam:ACOX
|
495 |
675 |
1.3e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170534
|
SMART Domains |
Protein: ENSMUSP00000130543 Gene: ENSMUSG00000021751
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_ox_N
|
32 |
148 |
4.1e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171567
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009] PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Dpysl4 |
A |
G |
7: 138,676,152 (GRCm39) |
N315D |
probably benign |
Het |
Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
F13b |
A |
C |
1: 139,445,071 (GRCm39) |
T574P |
probably damaging |
Het |
Fgfrl1 |
A |
G |
5: 108,853,926 (GRCm39) |
I344M |
probably benign |
Het |
Or5b21 |
G |
A |
19: 12,839,282 (GRCm39) |
V48I |
probably benign |
Het |
Park7 |
T |
C |
4: 150,985,509 (GRCm39) |
K122R |
probably benign |
Het |
Psg18 |
G |
A |
7: 18,084,904 (GRCm39) |
S64L |
probably benign |
Het |
Rhbdf1 |
T |
C |
11: 32,159,985 (GRCm39) |
D172G |
probably damaging |
Het |
Serpinb6b |
G |
A |
13: 33,152,551 (GRCm39) |
G20D |
possibly damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Syt14 |
A |
T |
1: 192,669,059 (GRCm39) |
Y65N |
possibly damaging |
Het |
Tll1 |
T |
C |
8: 64,551,526 (GRCm39) |
N285S |
probably damaging |
Het |
Umodl1 |
G |
A |
17: 31,208,502 (GRCm39) |
R849Q |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
|
Other mutations in Acox2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01530:Acox2
|
APN |
14 |
8,246,363 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01845:Acox2
|
APN |
14 |
8,251,617 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02830:Acox2
|
APN |
14 |
8,255,298 (GRCm38) |
missense |
probably damaging |
1.00 |
R0415:Acox2
|
UTSW |
14 |
8,243,835 (GRCm38) |
splice site |
probably benign |
|
R0535:Acox2
|
UTSW |
14 |
8,256,753 (GRCm38) |
missense |
probably damaging |
1.00 |
R1424:Acox2
|
UTSW |
14 |
8,230,247 (GRCm38) |
missense |
probably benign |
0.02 |
R1836:Acox2
|
UTSW |
14 |
8,248,059 (GRCm38) |
missense |
possibly damaging |
0.91 |
R1862:Acox2
|
UTSW |
14 |
8,241,416 (GRCm38) |
missense |
probably benign |
0.07 |
R1885:Acox2
|
UTSW |
14 |
8,248,102 (GRCm38) |
missense |
probably benign |
0.00 |
R2032:Acox2
|
UTSW |
14 |
8,246,400 (GRCm38) |
missense |
probably benign |
0.00 |
R2268:Acox2
|
UTSW |
14 |
8,253,496 (GRCm38) |
missense |
probably damaging |
0.98 |
R2497:Acox2
|
UTSW |
14 |
8,251,612 (GRCm38) |
missense |
probably benign |
0.00 |
R3842:Acox2
|
UTSW |
14 |
8,251,543 (GRCm38) |
missense |
probably damaging |
1.00 |
R3874:Acox2
|
UTSW |
14 |
8,248,061 (GRCm38) |
missense |
probably benign |
0.00 |
R4763:Acox2
|
UTSW |
14 |
8,241,334 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5072:Acox2
|
UTSW |
14 |
8,241,374 (GRCm38) |
nonsense |
probably null |
|
R5397:Acox2
|
UTSW |
14 |
8,243,803 (GRCm38) |
missense |
probably benign |
0.02 |
R5950:Acox2
|
UTSW |
14 |
8,255,793 (GRCm38) |
missense |
probably benign |
|
R7188:Acox2
|
UTSW |
14 |
8,252,996 (GRCm38) |
missense |
possibly damaging |
0.67 |
R7208:Acox2
|
UTSW |
14 |
8,241,303 (GRCm38) |
missense |
probably benign |
0.27 |
R7315:Acox2
|
UTSW |
14 |
8,256,139 (GRCm38) |
missense |
probably damaging |
0.99 |
R7757:Acox2
|
UTSW |
14 |
8,230,166 (GRCm38) |
missense |
probably damaging |
1.00 |
R7888:Acox2
|
UTSW |
14 |
8,246,415 (GRCm38) |
missense |
probably benign |
0.00 |
R8269:Acox2
|
UTSW |
14 |
8,246,325 (GRCm38) |
missense |
probably benign |
0.00 |
R8531:Acox2
|
UTSW |
14 |
8,247,960 (GRCm38) |
missense |
probably damaging |
1.00 |
R8536:Acox2
|
UTSW |
14 |
8,256,081 (GRCm38) |
missense |
probably benign |
0.00 |
R8782:Acox2
|
UTSW |
14 |
8,250,035 (GRCm38) |
missense |
probably damaging |
0.99 |
R8964:Acox2
|
UTSW |
14 |
8,243,768 (GRCm38) |
nonsense |
probably null |
|
R9183:Acox2
|
UTSW |
14 |
8,251,559 (GRCm38) |
missense |
probably damaging |
1.00 |
R9463:Acox2
|
UTSW |
14 |
8,256,789 (GRCm38) |
missense |
probably damaging |
1.00 |
R9466:Acox2
|
UTSW |
14 |
8,248,092 (GRCm38) |
missense |
probably benign |
0.12 |
Z1177:Acox2
|
UTSW |
14 |
8,256,852 (GRCm38) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGTCAGACAGATGCTGAATC -3'
(R):5'- CTTTCCAAGGACCCAAAGGC -3'
Sequencing Primer
(F):5'- GACAGATGCTGAATCTTATACCAGTC -3'
(R):5'- TTCCAAGGACCCAAAGGCATCTATC -3'
|
Posted On |
2015-02-05 |