Incidental Mutation 'IGL02228:Acot1'
ID 285372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot1
Ensembl Gene ENSMUSG00000072949
Gene Name acyl-CoA thioesterase 1
Synonyms Cte1, CTE-1, ACH2, CTE-I, D12Ucla1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL02228
Quality Score
Status
Chromosome 12
Chromosomal Location 84056276-84064444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84063738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 282 (V282A)
Ref Sequence ENSEMBL: ENSMUSP00000126448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168120]
AlphaFold O55137
Predicted Effect probably benign
Transcript: ENSMUST00000168120
AA Change: V282A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126448
Gene: ENSMUSG00000072949
AA Change: V282A

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 16 141 4.5e-46 PFAM
Pfam:DLH 144 408 2.9e-9 PFAM
Pfam:BAAT_C 203 410 3.1e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222862
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A G 7: 119,131,089 (GRCm39) D169G probably damaging Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Asah2 A T 19: 31,994,114 (GRCm39) D410E probably benign Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Crat T C 2: 30,303,194 (GRCm39) H31R probably damaging Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lcp2 T C 11: 33,997,424 (GRCm39) F24S probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Ufl1 A T 4: 25,281,686 (GRCm39) S23T probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N probably damaging Het
Other mutations in Acot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Acot1 APN 12 84,061,326 (GRCm39) missense probably damaging 1.00
R0089:Acot1 UTSW 12 84,063,708 (GRCm39) missense probably damaging 0.96
R0454:Acot1 UTSW 12 84,064,113 (GRCm39) missense probably benign 0.03
R1051:Acot1 UTSW 12 84,056,378 (GRCm39) missense probably damaging 0.98
R1998:Acot1 UTSW 12 84,056,527 (GRCm39) missense probably damaging 1.00
R1999:Acot1 UTSW 12 84,056,527 (GRCm39) missense probably damaging 1.00
R3825:Acot1 UTSW 12 84,061,194 (GRCm39) nonsense probably null
R3912:Acot1 UTSW 12 84,063,806 (GRCm39) missense probably damaging 1.00
R4359:Acot1 UTSW 12 84,061,314 (GRCm39) missense probably damaging 1.00
R5345:Acot1 UTSW 12 84,063,942 (GRCm39) missense probably damaging 0.99
R6265:Acot1 UTSW 12 84,063,687 (GRCm39) missense probably benign 0.23
R6387:Acot1 UTSW 12 84,056,627 (GRCm39) missense probably benign 0.00
R8005:Acot1 UTSW 12 84,063,774 (GRCm39) missense probably benign 0.04
R8108:Acot1 UTSW 12 84,064,135 (GRCm39) missense probably benign 0.00
R8546:Acot1 UTSW 12 84,064,139 (GRCm39) missense probably benign 0.00
R8922:Acot1 UTSW 12 84,064,085 (GRCm39) nonsense probably null
R9214:Acot1 UTSW 12 84,064,189 (GRCm39) missense
R9502:Acot1 UTSW 12 84,061,353 (GRCm39) nonsense probably null
R9533:Acot1 UTSW 12 84,063,988 (GRCm39) missense
Posted On 2015-04-16