Incidental Mutation 'IGL00965:Acot8'
List |< first << previous [record 52 of 1308] next >> last >|
ID26980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot8
Ensembl Gene ENSMUSG00000017307
Gene Nameacyl-CoA thioesterase 8
SynonymsPte1, PTE-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL00965
Quality Score
Status
Chromosome2
Chromosomal Location164792765-164804882 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) C to T at 164804815 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000133718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017451] [ENSMUST00000052107] [ENSMUST00000103094] [ENSMUST00000134611]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 T C 2: 131,054,263 probably benign Het
Adgrl1 C T 8: 83,937,703 T1236I probably damaging Het
Ago4 A G 4: 126,493,314 V832A probably benign Het
Ankrd26 G T 6: 118,559,358 Y91* probably null Het
Atp9a C A 2: 168,640,680 V845L probably benign Het
Cfap100 C T 6: 90,415,805 E108K probably benign Het
Chrdl2 T A 7: 100,006,653 probably null Het
Erbb4 A T 1: 68,071,630 L1008* probably null Het
Fam92b T C 8: 120,166,690 Q254R probably benign Het
Gm42688 C T 6: 83,103,392 probably benign Het
H2-Eb2 T A 17: 34,325,797 probably null Het
Hmcn2 T C 2: 31,343,096 V219A probably damaging Het
Hsf2 C T 10: 57,512,100 P447S probably damaging Het
Hsph1 A T 5: 149,630,804 I162N probably damaging Het
Ick A G 9: 78,164,539 I498V probably benign Het
Il12rb2 T C 6: 67,360,577 T107A probably damaging Het
Lnx1 T A 5: 74,685,717 N24I probably benign Het
Mgat3 C A 15: 80,212,433 A487D probably damaging Het
Olfr1416 T C 1: 92,480,024 D199G probably damaging Het
Olfr1564 C T 17: 33,215,973 V124M probably benign Het
Olfr629 T A 7: 103,740,965 I92F probably benign Het
Olfr808 T A 10: 129,767,586 L30Q probably null Het
Ppargc1b A G 18: 61,323,164 Y75H probably damaging Het
Rgl2 G T 17: 33,935,936 C638F probably benign Het
Rhpn1 C A 15: 75,711,886 R407S probably damaging Het
Sipa1l2 A G 8: 125,447,874 S1222P probably benign Het
Tango6 T A 8: 106,742,010 probably benign Het
Tonsl G A 15: 76,631,880 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn2r13 A C 5: 109,156,098 F822L probably damaging Het
Other mutations in Acot8
AlleleSourceChrCoordTypePredicted EffectPPH Score
etherial UTSW 2 164804735 missense
Evaporated UTSW 2 164795059 missense
R1655:Acot8 UTSW 2 164803108 missense probably benign 0.00
R1980:Acot8 UTSW 2 164795044 missense probably damaging 1.00
R5049:Acot8 UTSW 2 164799690 intron probably benign
R5305:Acot8 UTSW 2 164795765 missense probably benign 0.00
R6145:Acot8 UTSW 2 164803065 missense probably benign 0.44
R6261:Acot8 UTSW 2 164795059 missense probably damaging 1.00
R6458:Acot8 UTSW 2 164804735 missense possibly damaging 0.93
Z1088:Acot8 UTSW 2 164799813 missense probably damaging 0.98
Posted On2013-04-17