Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Acot8'

394505

Institutional Source

Beutler Lab

Gene Symbol

Acot8

Ensembl Gene

ENSMUSG00000017307

Gene Name

acyl-CoA thioesterase 8

Synonyms

Pte1, PTE-2

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

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

Stock #

R5049 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

164634685-164646802 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 164641610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133718 (fasta)

Gene Model

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

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: ENSMUST00000103094

SMART Domains

Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	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
R1980:Acot8	UTSW	2	164,636,964 (GRCm39)	missense	probably damaging	1.00
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'- ACTGAGTCATCTTAGTACTGTCTTC -3'
(R):5'- TGCTGTACCACGTAGAGAGG -3'

Sequencing Primer
(F):5'- TAGACCAGGCTAGCTTGGAACTC -3'
(R):5'- ATACGGACAGGAGCCAGCTTC -3'

Posted On

2016-06-15