Incidental Mutation 'IGL02228:Acot1'
ID285372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acot1
Ensembl Gene ENSMUSG00000072949
Gene Nameacyl-CoA thioesterase 1
SynonymsCte1, D12Ucla1, ACH2, CTE-1, CTE-I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02228
Quality Score
Status
Chromosome12
Chromosomal Location84009490-84018371 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84016964 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 282 (V282A)
Ref Sequence ENSEMBL: ENSMUSP00000126448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168120]
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: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Agpat1 T C 17: 34,610,562 F37L possibly damaging Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Capza3 A G 6: 140,041,915 D80G probably benign Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Gm13119 A G 4: 144,362,661 K183R probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Ogfod1 C A 8: 94,062,987 Q439K probably benign Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Rbbp4 A T 4: 129,317,750 H370Q probably damaging Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Acot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Acot1 APN 12 84014552 missense probably damaging 1.00
R0089:Acot1 UTSW 12 84016934 missense probably damaging 0.96
R0454:Acot1 UTSW 12 84017339 missense probably benign 0.03
R1051:Acot1 UTSW 12 84009604 missense probably damaging 0.98
R1998:Acot1 UTSW 12 84009753 missense probably damaging 1.00
R1999:Acot1 UTSW 12 84009753 missense probably damaging 1.00
R3825:Acot1 UTSW 12 84014420 nonsense probably null
R3912:Acot1 UTSW 12 84017032 missense probably damaging 1.00
R4359:Acot1 UTSW 12 84014540 missense probably damaging 1.00
R5345:Acot1 UTSW 12 84017168 missense probably damaging 0.99
R6265:Acot1 UTSW 12 84016913 missense probably benign 0.23
R6387:Acot1 UTSW 12 84009853 missense probably benign 0.00
R8005:Acot1 UTSW 12 84017000 missense probably benign 0.04
R8108:Acot1 UTSW 12 84017361 missense probably benign 0.00
Posted On2015-04-16