Mutagenetix > Incidental Mutation

Incidental Mutation 'R1051:Acot1'

93985

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

039141-MU

Accession Numbers

Essential gene?

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

Stock #

R1051 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

84056276-84064444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84056378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000126448 (fasta)

Gene Model

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

AlphaFold

O55137

Predicted Effect

probably damaging
Transcript: ENSMUST00000168120
AA Change: V32A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126448
Gene: ENSMUSG00000072949
AA Change: V32A

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: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ank1	G	A	8: 23,583,956 (GRCm39)	G353D	probably damaging	Het
Baiap2l1	T	A	5: 144,222,943 (GRCm39)	H97L	probably damaging	Het
Casp8ap2	C	A	4: 32,640,790 (GRCm39)	P615T	probably benign	Het
Chrng	A	T	1: 87,136,785 (GRCm39)	D218V	possibly damaging	Het
Col5a3	C	A	9: 20,686,531 (GRCm39)	V1365L	unknown	Het
Ddx49	A	G	8: 70,747,335 (GRCm39)		probably null	Het
Dnaaf2	T	C	12: 69,244,569 (GRCm39)	D164G	probably damaging	Het
Eefsec	A	T	6: 88,274,829 (GRCm39)	D378E	probably benign	Het
Farsb	T	C	1: 78,420,287 (GRCm39)	I535V	possibly damaging	Het
Fat1	T	G	8: 45,497,543 (GRCm39)	S4343A	probably damaging	Het
Fbn2	T	C	18: 58,145,425 (GRCm39)	Y2737C	probably damaging	Het
Gtf3c1	T	C	7: 125,306,821 (GRCm39)	E10G	probably damaging	Het
Has1	T	C	17: 18,068,541 (GRCm39)	D271G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il12rb2	A	G	6: 67,333,719 (GRCm39)	F187L	probably benign	Het
Kdsr	G	A	1: 106,675,310 (GRCm39)	Q109*	probably null	Het
Klb	G	A	5: 65,536,670 (GRCm39)	A667T	probably damaging	Het
Krba1	C	T	6: 48,390,332 (GRCm39)	R704C	possibly damaging	Het
Lenep	A	T	3: 89,309,780 (GRCm39)	I56N	possibly damaging	Het
Lipc	T	C	9: 70,709,398 (GRCm39)	I450V	probably benign	Het
Myh6	T	C	14: 55,186,984 (GRCm39)	N1329S	probably benign	Het
Myo5c	T	A	9: 75,198,165 (GRCm39)	M1330K	probably benign	Het
Myo9b	A	G	8: 71,808,466 (GRCm39)	E1691G	probably damaging	Het
Ninl	C	G	2: 150,812,046 (GRCm39)	E240Q	probably damaging	Het
Nlgn1	T	C	3: 25,966,869 (GRCm39)	S195G	probably damaging	Het
Nlrp4c	A	G	7: 6,068,942 (GRCm39)	E281G	probably benign	Het
Olfm2	T	C	9: 20,579,759 (GRCm39)	T331A	probably damaging	Het
Or1o1	A	T	17: 37,717,341 (GRCm39)	I301F	possibly damaging	Het
Or2d2	T	A	7: 106,728,123 (GRCm39)	D159V	possibly damaging	Het
Or8b9	T	C	9: 37,766,657 (GRCm39)	I181T	probably damaging	Het
Plekhh2	T	C	17: 84,829,255 (GRCm39)		probably null	Het
Pramel4	A	G	4: 143,795,068 (GRCm39)	E485G	possibly damaging	Het
Prss12	A	G	3: 123,279,174 (GRCm39)	D417G	probably null	Het
Rhpn1	A	T	15: 75,584,241 (GRCm39)	Y456F	probably damaging	Het
Rnpc3	C	T	3: 113,423,595 (GRCm39)	E37K	possibly damaging	Het
Rp1l1	T	G	14: 64,269,984 (GRCm39)	L1857V	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sepsecs	C	T	5: 52,822,698 (GRCm39)	A18T	probably damaging	Het
Sgms1	T	A	19: 32,137,439 (GRCm39)	L42F	probably damaging	Het
Sipa1l1	A	T	12: 82,496,119 (GRCm39)	D1720V	possibly damaging	Het
Slc13a3	A	T	2: 165,250,740 (GRCm39)		probably null	Het
Slc25a40	A	T	5: 8,480,450 (GRCm39)	M67L	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spesp1	T	C	9: 62,179,924 (GRCm39)	D328G	possibly damaging	Het
Sspo	T	A	6: 48,468,389 (GRCm39)	C4363*	probably null	Het
Tbc1d8	C	T	1: 39,420,534 (GRCm39)	W666*	probably null	Het
Tubgcp2	T	C	7: 139,578,809 (GRCm39)	D721G	probably benign	Het
Vps54	CTTAAT	CT	11: 21,228,001 (GRCm39)		probably null	Het
Wsb1	T	C	11: 79,137,059 (GRCm39)	S113G	probably damaging	Het
Zfp382	T	C	7: 29,833,435 (GRCm39)	F362S	probably damaging	Het
Zfp553	G	T	7: 126,835,977 (GRCm39)	G511*	probably null	Het
Zfp568	C	T	7: 29,721,954 (GRCm39)	Q299*	probably null	Het
Zfp688	G	A	7: 127,018,397 (GRCm39)	P243S	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCTGTCTGAGGCCAACCAATG -3'
(R):5'- CCCACAAGGGAACTTTGAGCAAAGG -3'

Sequencing Primer
(F):5'- GCCAACCAATGGGACTGC -3'
(R):5'- CCAAGAAGTGACGCTCGTG -3'

Posted On

2014-01-05