Incidental Mutation 'IGL00965:Acot8'
| ID |
26980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot8
|
| Ensembl Gene |
ENSMUSG00000017307 |
| Gene Name |
acyl-CoA thioesterase 8 |
| Synonyms |
Pte1, PTE-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164634685-164646802 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
C to T
at 164646735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017451]
[ENSMUST00000052107]
[ENSMUST00000103094]
[ENSMUST00000134611]
|
| AlphaFold |
P58137 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017451
AA Change: M1I
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000017451
Gene: ENSMUSG00000017307
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl_CoA_thio
|
38 |
132 |
4.6e-9 |
PFAM |
|
Pfam:4HBT_3
|
45 |
255 |
8.8e-30 |
PFAM |
|
Pfam:Acyl_CoA_thio
|
180 |
253 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052107
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
ZnF_PMZ
|
546 |
573 |
2.09e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103094
AA Change: M1I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl_CoA_thio
|
39 |
132 |
5e-9 |
PFAM |
|
Pfam:4HBT_3
|
45 |
309 |
2.7e-44 |
PFAM |
|
Pfam:Acyl_CoA_thio
|
180 |
308 |
5.3e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134611
AA Change: M1I
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133718
Gene: ENSMUSG00000017307
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136767
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,387,107 (GRCm39) |
V832A |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
| Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,544,771 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,269 (GRCm39) |
I162N |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,947 (GRCm39) |
V124M |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
| Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
| Rhpn1 |
C |
A |
15: 75,583,735 (GRCm39) |
R407S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
Het |
|
| Other mutations in Acot8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Etherial
|
UTSW |
2 |
164,646,655 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Evaporated
|
UTSW |
2 |
164,636,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Acot8
|
UTSW |
2 |
164,645,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1980:Acot8
|
UTSW |
2 |
164,636,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Acot8
|
UTSW |
2 |
164,641,610 (GRCm39) |
intron |
probably benign |
|
|
R5305:Acot8
|
UTSW |
2 |
164,637,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6145:Acot8
|
UTSW |
2 |
164,644,985 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6261:Acot8
|
UTSW |
2 |
164,636,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Acot8
|
UTSW |
2 |
164,646,655 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8308:Acot8
|
UTSW |
2 |
164,646,663 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9059:Acot8
|
UTSW |
2 |
164,634,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9239:Acot8
|
UTSW |
2 |
164,646,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Acot8
|
UTSW |
2 |
164,641,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-04-17 |
Incidental Mutation