Mutagenetix > Incidental Mutation

Incidental Mutation 'R1980:Acot8'

222110

Institutional Source

Beutler Lab

Gene Symbol

Acot8

Ensembl Gene

ENSMUSG00000017307

Gene Name

acyl-CoA thioesterase 8

Synonyms

Pte1, PTE-2

MMRRC Submission

039992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164634685-164646802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164636964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 262 (F262S)

Ref Sequence

ENSEMBL: ENSMUSP00000099383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017451] [ENSMUST00000056181] [ENSMUST00000103094] [ENSMUST00000134611] [ENSMUST00000174070] [ENSMUST00000172577]

AlphaFold

P58137

Predicted Effect

probably benign
Transcript: ENSMUST00000017451

SMART Domains

Protein: ENSMUSP00000017451
Gene: ENSMUSG00000017307

Domain	Start	End	E-Value	Type
Pfam:Acyl_CoA_thio	38	132	4.6e-9	PFAM
Pfam:4HBT_3	45	255	8.8e-30	PFAM
Pfam:Acyl_CoA_thio	180	253	2.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056181

SMART Domains

Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
PX	124	232	4.19e-10	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	334	343	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103094
AA Change: F262S

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

SMART Domains

Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307
AA Change: F262S

Domain	Start	End	E-Value	Type
Pfam:Acyl_CoA_thio	39	132	5e-9	PFAM
Pfam:4HBT_3	45	309	2.7e-44	PFAM
Pfam:Acyl_CoA_thio	180	308	5.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133053

Predicted Effect

probably benign
Transcript: ENSMUST00000134611

SMART Domains

Protein: ENSMUSP00000133718
Gene: ENSMUSG00000017307

Domain	Start	End	E-Value	Type
low complexity region	79	113	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136767

Predicted Effect

probably benign
Transcript: ENSMUST00000140519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174342

Predicted Effect

probably benign
Transcript: ENSMUST00000174070

SMART Domains

Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172577

SMART Domains

Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,386,702 (GRCm39)	I620S	possibly damaging	Het
Adgb	C	T	10: 10,309,242 (GRCm39)	V246I	probably benign	Het
Akap9	T	A	5: 4,022,771 (GRCm39)	M1200K	probably damaging	Het
Alg11	T	A	8: 22,551,903 (GRCm39)	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,410,244 (GRCm39)	V234A	probably benign	Het
Arhgap19	T	G	19: 41,776,784 (GRCm39)	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,641,767 (GRCm39)	S201P	probably damaging	Het
Asgr1	A	T	11: 69,945,772 (GRCm39)	D16V	probably damaging	Het
Camta2	A	T	11: 70,573,308 (GRCm39)	C227S	probably benign	Het
Cd22	A	T	7: 30,572,658 (GRCm39)	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,386,112 (GRCm39)	I2056K	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Ciapin1	C	T	8: 95,559,161 (GRCm39)	V43I	probably benign	Het
Cox5b-ps	T	G	13: 21,685,294 (GRCm39)	T99P	possibly damaging	Het
Dach1	A	G	14: 98,068,777 (GRCm39)	L601P	probably damaging	Het
Ddx11	T	A	17: 66,455,734 (GRCm39)	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,471,707 (GRCm39)	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Galnt5	T	C	2: 57,914,735 (GRCm39)		probably null	Het
Gemin5	A	G	11: 58,027,743 (GRCm39)	L935P	probably damaging	Het
Gm9507	A	T	10: 77,647,519 (GRCm39)	C53*	probably null	Het
Irgm2	A	G	11: 58,110,902 (GRCm39)	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	A	C	14: 100,387,162 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,480,451 (GRCm39)	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,696,890 (GRCm39)	H127Y	probably benign	Het
Lyar	T	C	5: 38,382,053 (GRCm39)	S12P	probably damaging	Het
Maml3	A	G	3: 52,011,473 (GRCm39)	I31T	unknown	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Minar2	T	A	18: 59,208,739 (GRCm39)	M129K	probably damaging	Het
Mysm1	A	T	4: 94,840,450 (GRCm39)	N655K	probably benign	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrxn1	A	G	17: 91,395,746 (GRCm39)	W137R	probably benign	Het
Numb	C	T	12: 83,844,118 (GRCm39)		probably null	Het
Obsl1	A	G	1: 75,482,480 (GRCm39)	F130S	probably damaging	Het
Or2h1	T	G	17: 37,404,295 (GRCm39)	Q157P	probably damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Pbx4	T	C	8: 70,322,776 (GRCm39)	V294A	probably benign	Het
Pde4dip	A	C	3: 97,664,312 (GRCm39)	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655 (GRCm39)	A319T	probably benign	Het
Ppid	A	T	3: 79,500,925 (GRCm39)	I32F	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr27	A	G	5: 87,991,261 (GRCm39)	E291G	probably benign	Het
Psme4	A	T	11: 30,782,615 (GRCm39)	K923N	possibly damaging	Het
Rab25	T	C	3: 88,450,765 (GRCm39)	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,612,239 (GRCm39)	P630S	probably benign	Het
Rasa2	T	C	9: 96,452,821 (GRCm39)	D355G	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rtn4	A	T	11: 29,658,634 (GRCm39)	E929D	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Slk	T	G	19: 47,600,428 (GRCm39)	I151S	probably damaging	Het
Spin1	T	A	13: 51,298,506 (GRCm39)	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,856,387 (GRCm39)	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043 (GRCm39)	Y10S	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	T	C	7: 63,858,182 (GRCm39)	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Tyro3	A	G	2: 119,639,298 (GRCm39)	D335G	probably benign	Het
Unc79	C	A	12: 102,977,538 (GRCm39)	Y180*	probably null	Het
Upp1	A	T	11: 9,084,872 (GRCm39)	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,908,308 (GRCm39)	M180K	possibly damaging	Het
Vtn	T	A	11: 78,392,724 (GRCm39)	I434N	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp819	A	G	7: 43,265,885 (GRCm39)	T47A	probably benign	Het
Zyg11b	G	A	4: 108,123,127 (GRCm39)	T280I	probably damaging	Het

Other mutations in Acot8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Acot8	APN	2	164,646,735 (GRCm39)	start codon destroyed	probably null	0.95
Etherial	UTSW	2	164,646,655 (GRCm39)	missense	possibly damaging	0.93
Evaporated	UTSW	2	164,636,979 (GRCm39)	missense	probably damaging	1.00
R1655:Acot8	UTSW	2	164,645,028 (GRCm39)	missense	probably benign	0.00
R5049:Acot8	UTSW	2	164,641,610 (GRCm39)	intron	probably benign
R5305:Acot8	UTSW	2	164,637,685 (GRCm39)	missense	probably benign	0.00
R6145:Acot8	UTSW	2	164,644,985 (GRCm39)	missense	probably benign	0.44
R6261:Acot8	UTSW	2	164,636,979 (GRCm39)	missense	probably damaging	1.00
R6458:Acot8	UTSW	2	164,646,655 (GRCm39)	missense	possibly damaging	0.93
R8308:Acot8	UTSW	2	164,646,663 (GRCm39)	missense	probably benign	0.30
R9059:Acot8	UTSW	2	164,634,829 (GRCm39)	missense	probably benign	0.00
R9239:Acot8	UTSW	2	164,646,608 (GRCm39)	critical splice donor site	probably null
Z1088:Acot8	UTSW	2	164,641,733 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGTGCAAGAAGCCTGTGC -3'
(R):5'- TGTGTATGGCAGCCCCTTTC -3'

Sequencing Primer
(F):5'- CAAGAAGCCTGTGCAGCAGC -3'
(R):5'- TCCCTGCAGGTCCTGAG -3'

Posted On

2014-08-25