Mutagenetix > Incidental Mutation

Incidental Mutation 'R1331:Acat1'

156197

Institutional Source

Beutler Lab

Gene Symbol

Acat1

Ensembl Gene

ENSMUSG00000032047

Gene Name

acetyl-Coenzyme A acetyltransferase 1

Synonyms

Acat, 6330585C21Rik

MMRRC Submission

039396-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R1331 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

53491822-53521650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53496183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 318 (D318G)

Ref Sequence

ENSEMBL: ENSMUSP00000034547 (fasta)

Gene Model

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

AlphaFold

Q8QZT1

Predicted Effect

probably benign
Transcript: ENSMUST00000034547
AA Change: D318G

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: D318G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169317

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,773,202 (GRCm39)		probably null	Het
Ahdc1	T	C	4: 132,791,002 (GRCm39)	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916 (GRCm39)		probably null	Het
Arhgef26	A	G	3: 62,247,449 (GRCm39)	T178A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359 (GRCm39)	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,869,634 (GRCm39)	E731G	probably benign	Het
Cenpf	A	G	1: 189,374,998 (GRCm39)	V2931A	probably damaging	Het
Cobl	A	T	11: 12,325,853 (GRCm39)	N207K	probably damaging	Het
Col14a1	T	A	15: 55,273,584 (GRCm39)	W718R	unknown	Het
Dnah7a	A	G	1: 53,507,828 (GRCm39)	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,615,698 (GRCm39)	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,364,796 (GRCm39)		probably benign	Het
Eri3	T	C	4: 117,422,104 (GRCm39)		probably benign	Het
Fbxo24	A	G	5: 137,617,891 (GRCm39)	V291A	probably damaging	Het
Glra1	A	C	11: 55,405,896 (GRCm39)	S282A	probably benign	Het
Gm7589	C	A	9: 59,053,325 (GRCm39)		noncoding transcript	Het
H6pd	T	C	4: 150,066,872 (GRCm39)	N505D	probably benign	Het
Hdlbp	T	A	1: 93,348,853 (GRCm39)	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,659,254 (GRCm39)	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,477 (GRCm39)	V120D	probably damaging	Het
Katnip	A	G	7: 125,465,627 (GRCm39)	T1360A	probably benign	Het
Loxhd1	C	T	18: 77,490,632 (GRCm39)	P1411S	possibly damaging	Het
Lpl	A	G	8: 69,349,281 (GRCm39)	E269G	probably damaging	Het
Map1a	G	T	2: 121,136,701 (GRCm39)	E2268*	probably null	Het
Mark1	T	C	1: 184,660,245 (GRCm39)	E137G	probably damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Mogat2	T	C	7: 98,872,722 (GRCm39)	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,732,405 (GRCm39)	I859M	probably benign	Het
Myo7a	A	G	7: 97,756,215 (GRCm39)	V39A	probably benign	Het
Nedd4	T	A	9: 72,584,668 (GRCm39)	I123N	probably damaging	Het
Obscn	A	G	11: 58,977,754 (GRCm39)	V1966A	probably benign	Het
Or7g33	T	C	9: 19,448,842 (GRCm39)	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748 (GRCm39)	N77T	probably benign	Het
Penk	A	G	4: 4,134,287 (GRCm39)	M120T	probably benign	Het
Phf7	G	A	14: 30,962,362 (GRCm39)	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,452,993 (GRCm39)	R3973C	probably damaging	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Ptprb	A	T	10: 116,203,437 (GRCm39)	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,272,453 (GRCm39)	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,685,084 (GRCm39)	A278S	probably benign	Het
Ripor2	G	T	13: 24,861,824 (GRCm39)	E203*	probably null	Het
Setx	T	C	2: 29,069,698 (GRCm39)	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc35b1	T	A	11: 95,276,689 (GRCm39)	V56D	probably damaging	Het
Slc45a4	C	T	15: 73,458,596 (GRCm39)	D326N	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat4	T	A	1: 52,053,086 (GRCm39)	V89D	probably benign	Het
Tek	T	A	4: 94,627,943 (GRCm39)		probably benign	Het
Tert	T	A	13: 73,796,473 (GRCm39)	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,217,670 (GRCm39)	I205K	probably damaging	Het
Vmn1r212	A	T	13: 23,067,562 (GRCm39)	I257K	probably benign	Het

Other mutations in Acat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Acat1	APN	9	53,493,895 (GRCm39)	missense	probably damaging	0.98
IGL02160:Acat1	APN	9	53,503,287 (GRCm39)	missense	probably benign	0.00
IGL02246:Acat1	APN	9	53,496,166 (GRCm39)	missense	probably benign	0.06
IGL02582:Acat1	APN	9	53,506,045 (GRCm39)	missense	probably benign	0.37
IGL03028:Acat1	APN	9	53,506,062 (GRCm39)	missense	probably benign	0.14
R0637:Acat1	UTSW	9	53,498,831 (GRCm39)	missense	probably damaging	1.00
R1200:Acat1	UTSW	9	53,494,810 (GRCm39)	missense	possibly damaging	0.90
R1302:Acat1	UTSW	9	53,500,525 (GRCm39)	missense	possibly damaging	0.70
R3683:Acat1	UTSW	9	53,498,765 (GRCm39)	missense	probably damaging	1.00
R4829:Acat1	UTSW	9	53,502,756 (GRCm39)	missense	probably damaging	1.00
R5035:Acat1	UTSW	9	53,494,810 (GRCm39)	missense	probably benign	0.00
R5354:Acat1	UTSW	9	53,500,483 (GRCm39)	missense	possibly damaging	0.91
R5411:Acat1	UTSW	9	53,493,946 (GRCm39)	missense	probably damaging	1.00
R5521:Acat1	UTSW	9	53,494,807 (GRCm39)	nonsense	probably null
R5634:Acat1	UTSW	9	53,494,921 (GRCm39)	intron	probably benign
R5905:Acat1	UTSW	9	53,503,366 (GRCm39)	missense	probably damaging	1.00
R6028:Acat1	UTSW	9	53,503,366 (GRCm39)	missense	probably damaging	1.00
R6925:Acat1	UTSW	9	53,503,329 (GRCm39)	missense	probably benign	0.12
R8298:Acat1	UTSW	9	53,505,724 (GRCm39)	missense	probably damaging	1.00
R9057:Acat1	UTSW	9	53,503,300 (GRCm39)	missense	probably damaging	1.00
R9237:Acat1	UTSW	9	53,494,816 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCTTTACCACTCCAGGGGTAAGCA -3'
(R):5'- ACCTCTCTCCAGGCAAATCAGTGT -3'

Sequencing Primer
(F):5'- TACAAGTGATTCAGCTATCCGC -3'
(R):5'- ttagaaggaaggggcagtaaag -3'

Posted On

2014-02-11