Incidental Mutation 'R1655:Acot8'
ID 189004
Institutional Source Beutler Lab
Gene Symbol Acot8
Ensembl Gene ENSMUSG00000017307
Gene Name acyl-CoA thioesterase 8
Synonyms Pte1, PTE-2
MMRRC Submission 039691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R1655 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164634685-164646802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164645028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 52 (S52T)
Ref Sequence ENSEMBL: ENSMUSP00000017451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017451] [ENSMUST00000052107] [ENSMUST00000103094] [ENSMUST00000134611]
AlphaFold P58137
Predicted Effect probably benign
Transcript: ENSMUST00000017451
AA Change: S52T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017451
Gene: ENSMUSG00000017307
AA Change: S52T

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

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 benign
Transcript: ENSMUST00000103094
AA Change: S52T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307
AA Change: S52T

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 benign
Transcript: ENSMUST00000134611
SMART Domains Protein: ENSMUSP00000133718
Gene: ENSMUSG00000017307

low complexity region 79 113 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136767
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,790 (GRCm39) probably benign Het
Abca1 C T 4: 53,050,964 (GRCm39) A1582T probably benign Het
Atcay C T 10: 81,049,231 (GRCm39) V124M probably damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Cfap46 A T 7: 139,222,436 (GRCm39) Y1180* probably null Het
Clptm1 T A 7: 19,379,792 (GRCm39) H148L probably benign Het
Clstn3 A G 6: 124,414,386 (GRCm39) L743P probably damaging Het
Crtc3 A T 7: 80,248,524 (GRCm39) M313K possibly damaging Het
Csgalnact1 T A 8: 68,826,341 (GRCm39) I326F possibly damaging Het
Dennd6b G T 15: 89,080,543 (GRCm39) T19K unknown Het
Disp1 A T 1: 182,868,568 (GRCm39) I1284N probably benign Het
Dnah2 A G 11: 69,364,680 (GRCm39) Y1992H probably damaging Het
Dnah6 C T 6: 73,182,715 (GRCm39) V205I possibly damaging Het
Dst G T 1: 34,321,657 (GRCm39) G4391* probably null Het
Dytn A G 1: 63,700,357 (GRCm39) S258P probably damaging Het
Emilin3 T A 2: 160,752,786 (GRCm39) probably null Het
Ermn C T 2: 57,942,596 (GRCm39) V45I probably benign Het
Fat4 T C 3: 39,011,467 (GRCm39) V2189A probably damaging Het
Fcgbpl1 A T 7: 27,846,535 (GRCm39) N1076Y probably damaging Het
Filip1l T C 16: 57,392,214 (GRCm39) I934T probably damaging Het
Gbp9 T A 5: 105,229,558 (GRCm39) Q472L possibly damaging Het
Gimap5 G T 6: 48,730,110 (GRCm39) E227* probably null Het
Gsdmc C T 15: 63,651,892 (GRCm39) V240M probably benign Het
H2-Q4 G T 17: 35,601,881 (GRCm39) V248F probably damaging Het
Helz2 T C 2: 180,875,940 (GRCm39) E1518G probably damaging Het
Hmcn1 A G 1: 150,506,084 (GRCm39) V3814A probably benign Het
Hoatz A T 9: 50,994,921 (GRCm39) I136N probably damaging Het
Ifna7 A G 4: 88,734,897 (GRCm39) T145A probably benign Het
Itgam T A 7: 127,714,335 (GRCm39) M947K probably benign Het
Itpr2 T G 6: 146,277,646 (GRCm39) N608H probably damaging Het
Klra2 T A 6: 131,197,174 (GRCm39) N242I probably damaging Het
Lonrf2 A T 1: 38,850,905 (GRCm39) L219Q probably damaging Het
Ly6c2 T C 15: 74,980,412 (GRCm39) I126V probably benign Het
Mr1 G A 1: 155,008,201 (GRCm39) T258M probably benign Het
Mrps35 T G 6: 146,961,726 (GRCm39) D200E possibly damaging Het
Nbeal2 A C 9: 110,461,940 (GRCm39) S1506A probably damaging Het
Ncoa7 T C 10: 30,574,241 (GRCm39) probably null Het
Nlrp4a A T 7: 26,149,076 (GRCm39) I228F possibly damaging Het
Or13p5 A G 4: 118,592,196 (GRCm39) S157G probably benign Het
Or5c1 A G 2: 37,221,951 (GRCm39) Y64C probably damaging Het
Or5p59 A T 7: 107,702,671 (GRCm39) I52F probably damaging Het
Or8k3 A G 2: 86,058,424 (GRCm39) V297A possibly damaging Het
Paxx T C 2: 25,350,328 (GRCm39) E93G probably damaging Het
Per2 C A 1: 91,376,490 (GRCm39) G128W probably damaging Het
Piezo1 A G 8: 123,223,561 (GRCm39) I796T probably benign Het
Pkhd1 A G 1: 20,654,353 (GRCm39) S235P probably damaging Het
Pole T A 5: 110,483,788 (GRCm39) F259Y probably damaging Het
Pus7 T A 5: 23,952,798 (GRCm39) K512* probably null Het
Ralyl A T 3: 14,172,296 (GRCm39) Y55F probably damaging Het
Rgs14 T A 13: 55,531,347 (GRCm39) M451K probably benign Het
Rhag T C 17: 41,142,487 (GRCm39) F231L probably damaging Het
Ric8a T C 7: 140,440,808 (GRCm39) C94R probably benign Het
Rictor T A 15: 6,801,693 (GRCm39) D460E probably benign Het
Rpn1 T C 6: 88,077,926 (GRCm39) V454A possibly damaging Het
Sacs A G 14: 61,429,231 (GRCm39) D427G probably benign Het
Scai A T 2: 38,970,129 (GRCm39) V545D possibly damaging Het
Serpinb3a A G 1: 106,973,942 (GRCm39) V323A probably damaging Het
Slc13a5 C A 11: 72,148,204 (GRCm39) C277F probably benign Het
Slc15a1 A T 14: 121,703,311 (GRCm39) Y557N probably benign Het
Slc34a2 T C 5: 53,226,761 (GRCm39) V628A probably benign Het
Slc8a2 G T 7: 15,875,060 (GRCm39) G436V probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Supt5 T C 7: 28,029,449 (GRCm39) I103V probably benign Het
Tdrd1 T A 19: 56,831,648 (GRCm39) Y346* probably null Het
Tg T G 15: 66,700,417 (GRCm39) probably null Het
Top1 T A 2: 160,545,616 (GRCm39) probably null Het
Trmt12 T C 15: 58,745,076 (GRCm39) L158P probably damaging Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Unc80 G T 1: 66,711,915 (GRCm39) V2746F possibly damaging Het
Usp34 T A 11: 23,325,051 (GRCm39) V999E probably benign Het
Virma T C 4: 11,494,786 (GRCm39) V29A probably damaging Het
Zfp40 A T 17: 23,396,240 (GRCm39) Y48N probably benign Het
Zfp609 A G 9: 65,610,836 (GRCm39) V709A possibly damaging Het
Other mutations in Acot8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Acot8 APN 2 164,646,735 (GRCm39) start codon destroyed probably null 0.95
Etherial UTSW 2 164,646,655 (GRCm39) missense possibly damaging 0.93
Evaporated UTSW 2 164,636,979 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09