Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Acot1'

285372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot1

Ensembl Gene

ENSMUSG00000072949

Gene Name

acyl-CoA thioesterase 1

Synonyms

Cte1, D12Ucla1, ACH2, CTE-1, CTE-I

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

84009490-84018371 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84016964 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8546:Acot1	UTSW	12	84017365	missense	probably benign	0.00
R8922:Acot1	UTSW	12	84017311	nonsense	probably null
R9214:Acot1	UTSW	12	84017415	missense
R9502:Acot1	UTSW	12	84014579	nonsense	probably null
R9533:Acot1	UTSW	12	84017214	missense

Posted On

2015-04-16