Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00497:Acot6'

8550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot6

Ensembl Gene

ENSMUSG00000043487

Gene Name

acyl-CoA thioesterase 6

Synonyms

4632408A20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00497

Quality Score

Status

Chromosome

Chromosomal Location

84147538-84158128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84156212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 387 (R387C)

Ref Sequence

ENSEMBL: ENSMUSP00000056131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046340] [ENSMUST00000056822] [ENSMUST00000123491] [ENSMUST00000136159] [ENSMUST00000156138] [ENSMUST00000222921]

AlphaFold

Q32Q92

Predicted Effect

probably benign
Transcript: ENSMUST00000046340

SMART Domains

Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523

Domain	Start	End	E-Value	Type
Pfam:LRR_1	32	52	8.1e-2	PFAM
Pfam:LRR_4	54	96	3.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056822
AA Change: R387C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056131
Gene: ENSMUSG00000043487
AA Change: R387C

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	16	141	1.5e-45	PFAM
Pfam:BAAT_C	203	410	4.1e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123491

SMART Domains

Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523

Domain	Start	End	E-Value	Type
Pfam:LRR_4	93	135	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136159

SMART Domains

Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523

Domain	Start	End	E-Value	Type
PDB:1DS9\|A	1	98	3e-28	PDB
SCOP:d1h6ta2	11	88	5e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143753

Predicted Effect

probably benign
Transcript: ENSMUST00000156138

SMART Domains

Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523

Domain	Start	End	E-Value	Type
PDB:1M9L\|A	1	50	1e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000222921

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	G	A	3: 79,538,598 (GRCm39)		probably benign	Het
Aatk	C	T	11: 119,901,012 (GRCm39)	R1128Q	probably benign	Het
Adam11	A	G	11: 102,660,973 (GRCm39)	E118G	probably damaging	Het
Adcyap1r1	G	A	6: 55,449,264 (GRCm39)	V73I	probably damaging	Het
Apol8	T	C	15: 77,634,214 (GRCm39)	T121A	probably damaging	Het
Bltp2	A	G	11: 78,163,759 (GRCm39)	N1076D	probably damaging	Het
Ccdc91	C	A	6: 147,508,485 (GRCm39)	Q404K	unknown	Het
Cpt1b	T	C	15: 89,306,496 (GRCm39)	K294R	probably benign	Het
Dnah6	A	C	6: 73,172,744 (GRCm39)	V238G	probably damaging	Het
Dscaml1	T	C	9: 45,663,536 (GRCm39)	S1920P	probably damaging	Het
Gcfc2	A	T	6: 81,934,951 (GRCm39)	I737L	probably benign	Het
Gmeb1	A	G	4: 131,955,296 (GRCm39)	V293A	probably benign	Het
Gpi-ps	T	C	8: 5,690,563 (GRCm39)		noncoding transcript	Het
Hibch	A	G	1: 52,924,349 (GRCm39)		probably benign	Het
Ifnab	A	G	4: 88,609,419 (GRCm39)	Y16H	probably benign	Het
Il17rc	T	C	6: 113,451,132 (GRCm39)	V155A	probably damaging	Het
Lrr1	A	G	12: 69,221,356 (GRCm39)	H166R	probably benign	Het
Map4k5	G	T	12: 69,892,506 (GRCm39)	A141E	probably damaging	Het
Mettl17	A	T	14: 52,126,292 (GRCm39)	K233N	probably damaging	Het
Mon2	A	G	10: 122,862,204 (GRCm39)	L740S	probably damaging	Het
Mpdz	A	C	4: 81,253,979 (GRCm39)	I1051S	probably benign	Het
Mroh8	A	G	2: 157,058,834 (GRCm39)	F944S	probably damaging	Het
Myh13	A	G	11: 67,233,314 (GRCm39)	Y611C	probably damaging	Het
Npat	A	G	9: 53,478,100 (GRCm39)	N951D	possibly damaging	Het
Osmr	T	C	15: 6,876,547 (GRCm39)	S126G	probably benign	Het
Parp14	T	C	16: 35,655,206 (GRCm39)	Y1755C	probably damaging	Het
Phf14	T	C	6: 11,941,423 (GRCm39)		probably benign	Het
Prex2	T	A	1: 11,256,876 (GRCm39)	M1196K	possibly damaging	Het
Prkd1	A	T	12: 50,430,264 (GRCm39)	D614E	probably damaging	Het
Ptprm	A	G	17: 67,124,967 (GRCm39)	L794P	probably damaging	Het
Rb1	C	T	14: 73,502,038 (GRCm39)	R449H	probably damaging	Het
Scfd1	A	G	12: 51,474,652 (GRCm39)	D469G	probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sgo1	A	G	17: 53,984,130 (GRCm39)		probably benign	Het
Slc11a1	A	G	1: 74,421,057 (GRCm39)		probably null	Het
Snw1	A	G	12: 87,499,350 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,339,533 (GRCm39)	I143T	probably damaging	Het
Tcta	A	T	9: 108,183,115 (GRCm39)	L10Q	probably damaging	Het
Tha1	T	C	11: 117,761,831 (GRCm39)		probably benign	Het
Trmt1	T	C	8: 85,422,138 (GRCm39)	M254T	possibly damaging	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Zfyve28	A	G	5: 34,400,539 (GRCm39)	V53A	probably damaging	Het

Other mutations in Acot6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Acot6	APN	12	84,153,250 (GRCm39)	missense	probably benign	0.01
IGL01364:Acot6	APN	12	84,147,840 (GRCm39)	missense	possibly damaging	0.78
IGL01504:Acot6	APN	12	84,156,176 (GRCm39)	missense	probably benign	0.05
IGL01707:Acot6	APN	12	84,147,763 (GRCm39)	missense	probably benign	0.00
R0323:Acot6	UTSW	12	84,155,953 (GRCm39)	missense	probably benign	0.01
R0531:Acot6	UTSW	12	84,148,075 (GRCm39)	missense	probably benign	0.00
R1640:Acot6	UTSW	12	84,147,900 (GRCm39)	missense	probably damaging	1.00
R1934:Acot6	UTSW	12	84,153,367 (GRCm39)	missense	probably benign	0.18
R2876:Acot6	UTSW	12	84,148,036 (GRCm39)	missense	possibly damaging	0.87
R4989:Acot6	UTSW	12	84,155,789 (GRCm39)	missense	probably benign	0.02
R6365:Acot6	UTSW	12	84,156,186 (GRCm39)	missense	probably benign
R6995:Acot6	UTSW	12	84,156,149 (GRCm39)	missense	probably damaging	1.00
R7204:Acot6	UTSW	12	84,153,301 (GRCm39)	missense	probably benign	0.01
R7657:Acot6	UTSW	12	84,153,304 (GRCm39)	missense	possibly damaging	0.94
R8465:Acot6	UTSW	12	84,153,215 (GRCm39)	critical splice acceptor site	probably null
R9154:Acot6	UTSW	12	84,147,789 (GRCm39)	missense	possibly damaging	0.87
R9208:Acot6	UTSW	12	84,153,358 (GRCm39)	missense	possibly damaging	0.88
R9259:Acot6	UTSW	12	84,155,816 (GRCm39)	missense	possibly damaging	0.81

Posted On

2012-12-06