Incidental Mutation 'R3842:Acox2'
| ID |
277216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acox2
|
| Ensembl Gene |
ENSMUSG00000021751 |
| Gene Name |
acyl-Coenzyme A oxidase 2, branched chain |
| Synonyms |
|
| MMRRC Submission |
040782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3842 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
14210420-14244262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8251543 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 318
(R318H)
|
| 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: R318H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: R318H
| 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: R318H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: R318H
| 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
|
| Meta Mutation Damage Score |
0.2536 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
| Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,079,336 (GRCm39) |
S122P |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
| Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
| Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
| Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
| Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
| Nemf |
C |
T |
12: 69,378,723 (GRCm39) |
S533N |
probably damaging |
Het |
| Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
| Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
| Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
| Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
| Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,098,314 (GRCm39) |
Y489N |
probably damaging |
Het |
| Topors |
C |
T |
4: 40,262,123 (GRCm39) |
R387H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
probably null |
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 |
|
R3032:Acox2
|
UTSW |
14 |
8,253,466 (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'- TTAGACCACACAGTCTGTCAGTG -3'
(R):5'- TAACTTGGCTCCAACCCAGC -3'
Sequencing Primer
(F):5'- CCATCTGAACTGCATACATGTGTGTG -3'
(R):5'- AGCATCTGTCTTTGTTGCACACAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation