Incidental Mutation 'R8269:Acox2'
| ID |
639510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acox2
|
| Ensembl Gene |
ENSMUSG00000021751 |
| Gene Name |
acyl-Coenzyme A oxidase 2, branched chain |
| Synonyms |
|
| MMRRC Submission |
067693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
14210420-14244262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8246325 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 489
(T489A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022271]
[ENSMUST00000164598]
|
| AlphaFold |
Q9QXD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022271
AA Change: T489A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: T489A
| 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 |
probably benign
Transcript: ENSMUST00000164598
AA Change: T489A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: T489A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
T |
5: 50,121,079 (GRCm39) |
C850S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| Akap11 |
G |
A |
14: 78,750,818 (GRCm39) |
T523I |
|
Het |
| Amigo2 |
G |
T |
15: 97,144,112 (GRCm39) |
N103K |
possibly damaging |
Het |
| Arfgap3 |
A |
C |
15: 83,194,542 (GRCm39) |
S377A |
probably benign |
Het |
| Arhgap39 |
G |
T |
15: 76,635,942 (GRCm39) |
Q98K |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,059,892 (GRCm39) |
D779G |
probably damaging |
Het |
| Bckdhb |
T |
C |
9: 84,004,417 (GRCm39) |
I388T |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,572,964 (GRCm39) |
K496R |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,478,389 (GRCm39) |
F979L |
probably damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,803 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,800 (GRCm39) |
S402T |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,182,500 (GRCm39) |
Y211* |
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,145,810 (GRCm39) |
|
probably null |
Het |
| Emc10 |
G |
T |
7: 44,141,408 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Exosc4 |
A |
T |
15: 76,211,732 (GRCm39) |
I14L |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,535 (GRCm39) |
T2393A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,187 (GRCm39) |
H405L |
possibly damaging |
Het |
| Gin1 |
T |
A |
1: 97,710,929 (GRCm39) |
M204K |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,100,862 (GRCm39) |
N103K |
possibly damaging |
Het |
| Gnal |
A |
G |
18: 67,268,693 (GRCm39) |
D193G |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,312,258 (GRCm39) |
R554L |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,727,655 (GRCm39) |
L149P |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,388,724 (GRCm39) |
Y2234H |
unknown |
Het |
| Lsm14b |
T |
C |
2: 179,674,407 (GRCm39) |
S317P |
probably damaging |
Het |
| Mapk4 |
G |
C |
18: 74,063,622 (GRCm39) |
F533L |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Ncan |
T |
A |
8: 70,560,330 (GRCm39) |
Q879L |
probably benign |
Het |
| Nox4 |
T |
G |
7: 86,955,930 (GRCm39) |
|
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,232,381 (GRCm39) |
V299D |
probably damaging |
Het |
| Or5p67 |
A |
T |
7: 107,922,776 (GRCm39) |
C36S |
probably benign |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,062 (GRCm39) |
K713E |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,756,211 (GRCm39) |
D835G |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,079,388 (GRCm39) |
N63D |
probably benign |
Het |
| Pls1 |
G |
T |
9: 95,644,023 (GRCm39) |
T491K |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,145,095 (GRCm39) |
D35G |
unknown |
Het |
| Slc28a2b |
C |
T |
2: 122,352,169 (GRCm39) |
H336Y |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,339,982 (GRCm39) |
K180R |
probably benign |
Het |
| Suv39h1 |
G |
T |
X: 7,937,270 (GRCm39) |
Q129K |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,465,169 (GRCm39) |
V73A |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,634,608 (GRCm39) |
V421E |
probably benign |
Het |
| Topbp1 |
C |
A |
9: 103,205,792 (GRCm39) |
P810Q |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,425,325 (GRCm39) |
V1717M |
probably benign |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,585 (GRCm39) |
T273S |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,423,188 (GRCm39) |
D1062G |
probably damaging |
Het |
| Zcrb1 |
A |
G |
15: 93,295,056 (GRCm39) |
Y27H |
probably benign |
Het |
| Zfp128 |
G |
A |
7: 12,624,663 (GRCm39) |
G344R |
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 |
|
R3032:Acox2
|
UTSW |
14 |
8,253,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TAAAGAGACGACGGTGGTCC -3'
(R):5'- TCCCACAGAGTCTCACACTGTC -3'
Sequencing Primer
(F):5'- TGTCCCCACAGAGACAGGAG -3'
(R):5'- ACAGAGTCTCACACTGTCTCATCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation