Mutagenetix > Incidental Mutation

Incidental Mutation 'R4359:Acot1'

324825

Institutional Source

Beutler Lab

Gene Symbol

Acot1

Ensembl Gene

ENSMUSG00000072949

Gene Name

acyl-CoA thioesterase 1

Synonyms

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

MMRRC Submission

041670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R4359 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84056276-84064444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84061314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 207 (Y207H)

Ref Sequence

ENSEMBL: ENSMUSP00000126448 (fasta)

Gene Model

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

AlphaFold

O55137

Predicted Effect

probably damaging
Transcript: ENSMUST00000168120
AA Change: Y207H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126448
Gene: ENSMUSG00000072949
AA Change: Y207H

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,247,629 (GRCm39)	V2459F	probably benign	Het
Anapc1	A	G	2: 128,465,476 (GRCm39)	V1668A	possibly damaging	Het
Atr	T	A	9: 95,833,589 (GRCm39)	I2613N	probably damaging	Het
Baz2b	A	G	2: 59,731,957 (GRCm39)	I2027T	possibly damaging	Het
C2cd3	T	G	7: 100,090,296 (GRCm39)	H466Q	probably damaging	Het
Cdc14b	T	A	13: 64,396,225 (GRCm39)	I15F	probably benign	Het
Cep135	G	T	5: 76,759,561 (GRCm39)	K438N	possibly damaging	Het
Cnot1	T	C	8: 96,466,476 (GRCm39)	D1587G	probably damaging	Het
Cxcl16	C	A	11: 70,349,631 (GRCm39)	V65L	possibly damaging	Het
Dhx36	T	A	3: 62,382,699 (GRCm39)	T783S	probably benign	Het
Disp3	T	C	4: 148,356,389 (GRCm39)	N157S	probably benign	Het
Efcab3	G	T	11: 104,624,547 (GRCm39)		probably null	Het
Fem1al	A	T	11: 29,774,669 (GRCm39)	S263T	probably benign	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Grin3b	T	A	10: 79,808,731 (GRCm39)	D160E	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Htr1b	C	A	9: 81,514,404 (GRCm39)	A68S	probably benign	Het
Ifit2	A	T	19: 34,550,544 (GRCm39)	D28V	possibly damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
L3mbtl3	A	G	10: 26,203,639 (GRCm39)	V397A	unknown	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp1b	A	C	2: 40,793,077 (GRCm39)	C2532W	probably damaging	Het
Malt1	T	C	18: 65,609,300 (GRCm39)	V768A	probably benign	Het
Mindy3	A	T	2: 12,401,020 (GRCm39)	W233R	probably damaging	Het
Ncor1	T	C	11: 62,249,736 (GRCm39)	K1054R	probably damaging	Het
Nin	T	A	12: 70,061,712 (GRCm39)	T2051S	probably benign	Het
Or10j5	C	A	1: 172,784,647 (GRCm39)	A95E	probably benign	Het
Or51ac3	A	G	7: 103,213,742 (GRCm39)	F248S	probably benign	Het
Pcsk1	T	C	13: 75,260,838 (GRCm39)	S354P	possibly damaging	Het
Pilra	T	C	5: 137,829,576 (GRCm39)	T160A	probably benign	Het
Plekha5	G	C	6: 140,537,414 (GRCm39)	E540D	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Stxbp4	C	T	11: 90,385,470 (GRCm39)	W506*	probably null	Het
Timeless	C	A	10: 128,083,211 (GRCm39)	Q653K	probably benign	Het
Trio	G	A	15: 27,749,883 (GRCm39)	Q1129*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zzef1	T	A	11: 72,714,334 (GRCm39)	S275T	probably damaging	Het

Other mutations in Acot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02228:Acot1	APN	12	84,063,738 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGAACCTGGACCCTTTC -3'
(R):5'- CATATCATATGAAAGAGTACTGGCTGG -3'

Sequencing Primer
(F):5'- CCTGGGATCATAGACCTTTTTGGAG -3'
(R):5'- TTGTATCAAACCCAGGGATCTC -3'

Posted On

2015-07-06