Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01364:Acot6'

75881

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 #

IGL01364

Quality Score

Status

Chromosome

Chromosomal Location

84147538-84158128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84147840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000152129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056822] [ENSMUST00000222921]

AlphaFold

Q32Q92

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056822
AA Change: V32A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056131
Gene: ENSMUSG00000043487
AA Change: V32A

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

possibly damaging
Transcript: ENSMUST00000222921
AA Change: V32A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	A	4: 40,181,380 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,574,762 (GRCm39)	L73I	probably damaging	Het
Aldh1l2	C	A	10: 83,328,531 (GRCm39)	D729Y	probably damaging	Het
Alox15	T	C	11: 70,235,992 (GRCm39)	Q525R	possibly damaging	Het
Atr	T	C	9: 95,747,677 (GRCm39)	Y320H	probably benign	Het
Atxn3	C	T	12: 101,900,682 (GRCm39)		probably benign	Het
Caprin2	C	A	6: 148,774,526 (GRCm39)	S262I	probably benign	Het
Ccar1	T	C	10: 62,612,653 (GRCm39)		probably null	Het
Ccdc14	T	A	16: 34,543,583 (GRCm39)	L647H	probably damaging	Het
Cd300lf	T	C	11: 115,017,176 (GRCm39)	D49G	probably benign	Het
Csmd2	A	G	4: 128,308,081 (GRCm39)	T1280A	probably benign	Het
Ddb1	T	C	19: 10,605,024 (GRCm39)		probably null	Het
Dnah9	A	G	11: 66,046,285 (GRCm39)	Y88H	probably damaging	Het
Enpp1	T	C	10: 24,540,512 (GRCm39)	T351A	probably damaging	Het
Evi2b	T	A	11: 79,407,449 (GRCm39)	Y42F	probably benign	Het
Fdps	A	T	3: 89,001,577 (GRCm39)	C274*	probably null	Het
Flnb	A	C	14: 7,934,562 (GRCm38)		probably null	Het
Herc1	T	A	9: 66,306,643 (GRCm39)	V917E	probably benign	Het
Hmcn2	C	T	2: 31,251,826 (GRCm39)	Q854*	probably null	Het
Hmgxb3	T	C	18: 61,279,506 (GRCm39)	Y769C	probably damaging	Het
Hps3	G	T	3: 20,057,469 (GRCm39)	Q772K	possibly damaging	Het
Ifnab	T	C	4: 88,608,987 (GRCm39)	S160G	probably damaging	Het
Kalrn	T	C	16: 34,082,999 (GRCm39)	E652G	probably damaging	Het
Kat6a	T	C	8: 23,397,716 (GRCm39)	L255S	probably damaging	Het
Kbtbd7	T	A	14: 79,665,486 (GRCm39)	D439E	possibly damaging	Het
Kcnn4	T	C	7: 24,081,128 (GRCm39)	F289L	probably benign	Het
Mapk6	A	C	9: 75,296,072 (GRCm39)	D475E	possibly damaging	Het
Msh5	A	G	17: 35,247,745 (GRCm39)	V825A	possibly damaging	Het
Mst1	A	G	9: 107,958,800 (GRCm39)	I111V	probably benign	Het
Myo1h	T	A	5: 114,486,500 (GRCm39)	I586N	probably damaging	Het
Or4k36	G	T	2: 111,146,015 (GRCm39)	A64S	probably damaging	Het
Panx1	C	T	9: 14,932,761 (GRCm39)	V80M	probably damaging	Het
Polr3b	T	A	10: 84,531,533 (GRCm39)	I803N	probably benign	Het
Rasa4	T	C	5: 136,124,425 (GRCm39)	V158A	possibly damaging	Het
Rbp3	T	A	14: 33,676,145 (GRCm39)	M31K	possibly damaging	Het
Rpl3l	A	G	17: 24,951,404 (GRCm39)	K154E	probably benign	Het
Sec24a	A	T	11: 51,604,356 (GRCm39)		probably null	Het
Sox5	C	T	6: 144,062,198 (GRCm39)	M151I	probably damaging	Het
Sun1	T	A	5: 139,220,496 (GRCm39)	L290Q	probably damaging	Het
Tm9sf2	T	A	14: 122,380,872 (GRCm39)	I155N	probably damaging	Het
Trmt9b	A	G	8: 36,979,501 (GRCm39)	K368R	probably benign	Het
Tuft1	A	G	3: 94,542,810 (GRCm39)		probably benign	Het
Ubash3b	A	G	9: 40,929,311 (GRCm39)		probably null	Het
Vwa1	A	G	4: 155,855,200 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,914,372 (GRCm39)	E80G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Acot6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Acot6	APN	12	84,156,212 (GRCm39)	missense	probably damaging	1.00
IGL00901:Acot6	APN	12	84,153,250 (GRCm39)	missense	probably benign	0.01
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

2013-10-07