Mutagenetix > Incidental Mutations

Incidental Mutation 'R1302:Acat1'

158428

Institutional Source

Beutler Lab

Gene Symbol

Acat1

Ensembl Gene

ENSMUSG00000032047

Gene Name

acetyl-Coenzyme A acetyltransferase 1

Synonyms

6330585C21Rik, Acat

MMRRC Submission

039368-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R1302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53580522-53610382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53589225 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 257 (D257G)

Ref Sequence

ENSEMBL: ENSMUSP00000034547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034547]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034547
AA Change: D257G

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: D257G

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
Pfam:Thiolase_N	39	296	3.7e-98	PFAM
Pfam:ketoacyl-synt	104	166	1.1e-8	PFAM
Pfam:Thiolase_C	303	423	1.5e-48	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 124,839,868	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,953,276	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,685,817	M548K	probably damaging	Het
Adamts4	G	A	1: 171,253,183	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,272,329	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,115,003	G275S	probably damaging	Het
Ascc3	T	A	10: 50,604,794	M1K	probably null	Het
Atf7ip2	T	C	16: 10,240,608	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518	C333*	probably null	Het
Ccdc68	G	A	18: 69,938,962	V37M	probably damaging	Het
Cda	T	A	4: 138,351,191	I87F	probably damaging	Het
Chst1	A	T	2: 92,613,519	D112V	probably damaging	Het
Chtf18	T	C	17: 25,719,158	D967G	probably damaging	Het
Col5a1	A	G	2: 28,005,236	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,149,377	F12V	probably damaging	Het
Ctif	G	T	18: 75,521,678	P259Q	probably benign	Het
Duox1	A	T	2: 122,347,279	I1515F	probably benign	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Flt1	A	G	5: 147,564,240	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,655,538	D516G	probably benign	Het
Gin1	A	T	1: 97,775,589	K46*	probably null	Het
Gle1	C	G	2: 29,952,552		probably null	Het
Gm11146	T	G	16: 77,602,082	I5L	unknown	Het
Gm597	A	T	1: 28,776,340	D870E	probably benign	Het
Gpr153	C	T	4: 152,279,943	T152M	probably damaging	Het
H1foo	A	T	6: 115,947,649	R39*	probably null	Het
Hdlbp	A	T	1: 93,423,385		probably null	Het
Ifi207	A	T	1: 173,735,295	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,516,920	P32T	probably benign	Het
Ints10	T	A	8: 68,827,312	V697E	probably damaging	Het
Krt14	A	G	11: 100,203,347	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,327,769	I388F	unknown	Het
Ldha	A	C	7: 46,847,639	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,132,413	S232P	probably benign	Het
Med1	G	T	11: 98,157,449	D840E	possibly damaging	Het
Med23	T	A	10: 24,888,422		probably null	Het
Naip5	G	A	13: 100,221,591	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,515,432	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,194,557	S425P	possibly damaging	Het
Nova1	A	T	12: 46,720,798	H113Q	unknown	Het
Npc1	T	C	18: 12,195,085	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,249,889	H354R	probably benign	Het
Ogfod3	A	G	11: 121,183,474	F250L	probably damaging	Het
Pclo	A	G	5: 14,681,633	D3383G	unknown	Het
Pde1b	T	A	15: 103,527,599	D457E	probably benign	Het
Pkd1	C	G	17: 24,568,236	S581R	probably benign	Het
Pno1	T	A	11: 17,204,545	Q212L	probably benign	Het
Polr3b	C	T	10: 84,632,486	P112L	probably damaging	Het
Pomk	T	A	8: 25,983,074	I284F	probably damaging	Het
Rapgef4	A	T	2: 72,045,160	D119V	probably benign	Het
Rprm	A	T	2: 54,085,153	L51Q	probably benign	Het
Taok3	A	C	5: 117,199,043	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,895,129	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,356,916	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,479	D235E	possibly damaging	Het
Vapb	C	A	2: 173,771,537	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,738,257	I700V	probably damaging	Het
Wwc1	G	A	11: 35,844,157	R964W	probably damaging	Het
Zfp644	A	T	5: 106,634,899	V1203D	probably damaging	Het

Other mutations in Acat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Acat1	APN	9	53582595	missense	probably damaging	0.98
IGL02160:Acat1	APN	9	53591987	missense	probably benign	0.00
IGL02246:Acat1	APN	9	53584866	missense	probably benign	0.06
IGL02582:Acat1	APN	9	53594745	missense	probably benign	0.37
IGL03028:Acat1	APN	9	53594762	missense	probably benign	0.14
R0637:Acat1	UTSW	9	53587531	missense	probably damaging	1.00
R1200:Acat1	UTSW	9	53583510	missense	possibly damaging	0.90
R1331:Acat1	UTSW	9	53584883	missense	probably benign	0.10
R3683:Acat1	UTSW	9	53587465	missense	probably damaging	1.00
R4829:Acat1	UTSW	9	53591456	missense	probably damaging	1.00
R5035:Acat1	UTSW	9	53583510	missense	probably benign	0.00
R5354:Acat1	UTSW	9	53589183	missense	possibly damaging	0.91
R5411:Acat1	UTSW	9	53582646	missense	probably damaging	1.00
R5521:Acat1	UTSW	9	53583507	nonsense	probably null
R5634:Acat1	UTSW	9	53583621	intron	probably benign
R5905:Acat1	UTSW	9	53592066	missense	probably damaging	1.00
R6028:Acat1	UTSW	9	53592066	missense	probably damaging	1.00
R6925:Acat1	UTSW	9	53592029	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTGTGGAAAACAACTCTCTAGCCATGT -3'
(R):5'- CCCCAGGAGTACAGGCTGTGA -3'

Sequencing Primer
(F):5'- gatggcagttcacaattccag -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-02-18