Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00987:Acot9'

29609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot9

Ensembl Gene

ENSMUSG00000025287

Gene Name

acyl-CoA thioesterase 9

Synonyms

p48, MT-ACT48, Acate2, 0610041P13Rik, U8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00987

Quality Score

Status

Chromosome

Chromosomal Location

154045439-154080650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154078177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 241 (I241T)

Ref Sequence

ENSEMBL: ENSMUSP00000026324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026324] [ENSMUST00000131332]

AlphaFold

Q9R0X4

Predicted Effect

probably benign
Transcript: ENSMUST00000026324
AA Change: I241T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000026324
Gene: ENSMUSG00000025287
AA Change: I241T

Domain	Start	End	E-Value	Type
SCOP:d1lo7a_	108	222	1e-3	SMART
PDB:4IEN\|D	277	400	8e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126200

Predicted Effect

probably benign
Transcript: ENSMUST00000131332

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5mc3	T	A	2: 73,740,270 (GRCm39)	R19*	probably null	Het
Celf4	T	C	18: 25,620,007 (GRCm39)	D420G	probably damaging	Het
Cideb	C	A	14: 55,992,017 (GRCm39)	R179L	possibly damaging	Het
Cmtr1	G	A	17: 29,916,143 (GRCm39)	R591H	probably benign	Het
Dync1li2	A	T	8: 105,169,130 (GRCm39)	S34T	possibly damaging	Het
Eri2	A	G	7: 119,390,389 (GRCm39)	Y80H	probably damaging	Het
Eya2	A	G	2: 165,596,401 (GRCm39)	E304G	probably damaging	Het
Fam135a	A	C	1: 24,094,979 (GRCm39)	L130V	probably damaging	Het
Fancb	A	T	X: 163,774,594 (GRCm39)	K410N	probably damaging	Het
Gabpb2	A	C	3: 95,107,502 (GRCm39)	V191G	probably damaging	Het
Gfm1	A	G	3: 67,345,893 (GRCm39)	H197R	possibly damaging	Het
Gm11595	A	G	11: 99,663,365 (GRCm39)	V105A	unknown	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Herc1	G	T	9: 66,315,334 (GRCm39)	V1139L	probably benign	Het
Itgal	T	C	7: 126,901,183 (GRCm39)	F190L	probably damaging	Het
Krt87	G	A	15: 101,336,327 (GRCm39)	H109Y	probably benign	Het
Lmf2	T	C	15: 89,238,771 (GRCm39)	Y115C	probably benign	Het
Papolg	T	A	11: 23,826,377 (GRCm39)	Y259F	possibly damaging	Het
Parn	T	C	16: 13,485,467 (GRCm39)	I10V	probably benign	Het
Pdcd11	T	A	19: 47,102,989 (GRCm39)		probably benign	Het
Phldb2	T	A	16: 45,583,465 (GRCm39)	Q1003L	possibly damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Pkp4	T	C	2: 59,138,701 (GRCm39)	L317P	probably damaging	Het
Polr2a	T	C	11: 69,634,620 (GRCm39)		probably benign	Het
Prdm16	G	A	4: 154,426,426 (GRCm39)	T453M	possibly damaging	Het
Rnf144b	A	T	13: 47,360,969 (GRCm39)	E36D	possibly damaging	Het
Ryr2	G	A	13: 11,750,388 (GRCm39)	T1961I	probably damaging	Het
Sash1	T	A	10: 8,627,177 (GRCm39)	K305I	probably damaging	Het
Tbc1d7	A	T	13: 43,312,797 (GRCm39)	I32N	probably damaging	Het
Thop1	T	C	10: 80,917,529 (GRCm39)	F623L	probably damaging	Het
Thsd7b	G	A	1: 129,541,016 (GRCm39)	G297R	probably damaging	Het
Tln1	C	A	4: 43,551,297 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,649 (GRCm39)	N151D	probably damaging	Het

Other mutations in Acot9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Acot9	APN	X	154,078,236 (GRCm39)	missense	possibly damaging	0.50
IGL03218:Acot9	APN	X	154,078,207 (GRCm39)	missense	possibly damaging	0.48
R3745:Acot9	UTSW	X	154,054,941 (GRCm39)	splice site	probably benign
R4498:Acot9	UTSW	X	154,047,064 (GRCm39)	nonsense	probably null

Posted On

2013-04-17