Mutagenetix > Incidental Mutation

Incidental Mutation 'R6387:Acot1'

514670

Institutional Source

Beutler Lab

Gene Symbol

Acot1

Ensembl Gene

ENSMUSG00000072949

Gene Name

acyl-CoA thioesterase 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84009490-84018371 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84009853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 115 (D115G)

Ref Sequence

ENSEMBL: ENSMUSP00000126448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168120]

AlphaFold

O55137

Predicted Effect

probably benign
Transcript: ENSMUST00000168120
AA Change: D115G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126448
Gene: ENSMUSG00000072949
AA Change: D115G

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

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,737,015	K326E	possibly damaging	Het
Adm	T	C	7: 110,628,295	I6T	possibly damaging	Het
Ahi1	A	G	10: 20,969,043	Y349C	probably damaging	Het
Aldh1a1	A	G	19: 20,617,959	E84G	probably damaging	Het
Ankrd31	A	G	13: 96,830,573	D520G	probably damaging	Het
Ano4	A	T	10: 88,971,405	Y736*	probably null	Het
Atp6v1a	A	G	16: 44,087,443	F612S	possibly damaging	Het
Calcb	G	A	7: 114,719,790	V17I	possibly damaging	Het
Cfap70	C	T	14: 20,448,575	V15M	probably damaging	Het
Chad	C	T	11: 94,567,837	H271Y	possibly damaging	Het
Csgalnact1	C	T	8: 68,358,713	G435D	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Eprs	T	A	1: 185,387,084	M487K	possibly damaging	Het
Fat4	A	G	3: 38,983,785	E3862G	probably damaging	Het
Gdf10	T	A	14: 33,924,004	S37T	probably benign	Het
Hhatl	T	A	9: 121,790,401	H39L	probably benign	Het
Icam4	A	C	9: 21,030,209	S215R	possibly damaging	Het
Ighv1-18	T	C	12: 114,682,660	E108G	probably damaging	Het
Iqcd	T	C	5: 120,606,855	I416T	probably benign	Het
Marf1	T	A	16: 14,141,640	*577L	probably null	Het
Mark2	A	G	19: 7,285,902	F167L	probably damaging	Het
Mpdz	T	C	4: 81,381,709	T351A	possibly damaging	Het
Mrps27	A	G	13: 99,400,317	I113V	possibly damaging	Het
Numbl	C	T	7: 27,276,690	T265I	probably damaging	Het
Obsl1	C	T	1: 75,491,362	A1296T	probably benign	Het
Olfr979	A	G	9: 40,000,852	I125T	probably damaging	Het
Pcdhb21	A	G	18: 37,515,332	I505V	probably benign	Het
Pfas	A	G	11: 69,000,465	F269L	probably damaging	Het
Prkdc	G	A	16: 15,698,815	V1018I	probably benign	Het
Prl4a1	T	A	13: 28,018,499	V19E	possibly damaging	Het
Ptpn22	A	G	3: 103,885,386	D327G	probably benign	Het
Smad3	G	T	9: 63,654,765	D310E	probably benign	Het
Sparcl1	T	A	5: 104,085,060	D625V	probably damaging	Het
Spta1	G	A	1: 174,231,333	A1945T	probably benign	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Sympk	T	C	7: 19,052,498	Y1009H	possibly damaging	Het
Trio	A	G	15: 27,752,739	F1026L	probably damaging	Het
Uhrf1bp1l	C	T	10: 89,803,057	Q442*	probably null	Het
Unc5d	T	A	8: 28,875,526	K144*	probably null	Het
Unk	A	G	11: 116,054,940	N479S	possibly damaging	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zfp993	A	G	4: 146,657,518	T100A	probably damaging	Het

Other mutations in Acot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02228:Acot1	APN	12	84016964	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAGTCCAGCTCGAGATG -3'
(R):5'- CCTAGATCTTTTGGAGCTACCC -3'

Sequencing Primer
(F):5'- ACGCTGAACCTTGAGCC -3'
(R):5'- TCACTTCTGAGTTCGAGGCCAG -3'

Posted On

2018-05-04