Mutagenetix > Incidental Mutation

Incidental Mutation 'R8298:Acat1'

639084

Institutional Source

Beutler Lab

Gene Symbol

Acat1

Ensembl Gene

ENSMUSG00000032047

Gene Name

acetyl-Coenzyme A acetyltransferase 1

Synonyms

Acat, 6330585C21Rik

MMRRC Submission

067786-MU

Accession Numbers

Essential gene?

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

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53491822-53521650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53505724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 136 (S136R)

Ref Sequence

ENSEMBL: ENSMUSP00000034547 (fasta)

Gene Model

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

AlphaFold

Q8QZT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034547
AA Change: S136R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: S136R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,695 (GRCm39)	L343P	probably benign	Het
Aak1	T	A	6: 86,902,061 (GRCm39)	F77I	possibly damaging	Het
Abca3	T	C	17: 24,604,375 (GRCm39)	L582P	probably damaging	Het
Adamts2	T	C	11: 50,667,958 (GRCm39)	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,256,482 (GRCm39)	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,534,033 (GRCm39)	C5849*	probably null	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ak9	A	G	10: 41,265,054 (GRCm39)	E404G		Het
Akap13	T	C	7: 75,397,552 (GRCm39)	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Arv1	A	G	8: 125,455,111 (GRCm39)	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429 (GRCm39)	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,827,649 (GRCm39)	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,311,362 (GRCm39)	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,462,115 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,814,157 (GRCm39)	D1458G	probably benign	Het
Dock10	T	C	1: 80,514,654 (GRCm39)	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,057,112 (GRCm39)	D354N	probably damaging	Het
Epha3	T	A	16: 63,386,961 (GRCm39)	I892F	probably benign	Het
Evi5	G	A	5: 107,964,731 (GRCm39)	S317L	possibly damaging	Het
Evl	C	T	12: 108,619,232 (GRCm39)	P76S	probably benign	Het
Fyb2	A	C	4: 104,806,028 (GRCm39)	E369D	probably damaging	Het
Gm10000	T	C	12: 104,442,436 (GRCm39)		probably benign	Het
Gm1979	T	C	5: 26,206,148 (GRCm39)	N190S	probably damaging	Het
Gm3633	T	C	14: 42,462,675 (GRCm39)	E72G		Het
Gm5414	T	C	15: 101,532,605 (GRCm39)	Y506C	unknown	Het
Gm572	T	A	4: 148,742,550 (GRCm39)	H96Q	possibly damaging	Het
Gml	T	C	15: 74,685,541 (GRCm39)	E148G	probably damaging	Het
Got1l1	T	C	8: 27,688,586 (GRCm39)	D255G	probably benign	Het
Hydin	A	G	8: 111,327,015 (GRCm39)	N4785D	probably damaging	Het
Kcnk12	A	T	17: 88,104,713 (GRCm39)	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,186,429 (GRCm39)	G336C	probably damaging	Het
Kprp	T	C	3: 92,732,607 (GRCm39)	T148A	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,042,927 (GRCm39)	S41T	unknown	Het
Lnx2	A	T	5: 146,961,327 (GRCm39)	M535K	probably benign	Het
Mmp9	T	A	2: 164,792,279 (GRCm39)	F294L	probably null	Het
Myo7a	T	C	7: 97,747,541 (GRCm39)	Y97C	probably damaging	Het
Nav2	T	C	7: 49,204,009 (GRCm39)		probably null	Het
Ndufaf3	T	C	9: 108,444,120 (GRCm39)	T3A	probably benign	Het
Nrxn1	A	G	17: 91,011,597 (GRCm39)	I344T	probably damaging	Het
Or1j1	T	C	2: 36,703,038 (GRCm39)	E22G	probably benign	Het
Or5ap2	T	C	2: 85,680,533 (GRCm39)	S246P	probably damaging	Het
Or5w14	A	T	2: 87,541,376 (GRCm39)	S291R	probably damaging	Het
Pccb	T	C	9: 100,867,885 (GRCm39)	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,623,852 (GRCm39)	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,009,618 (GRCm39)	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,844,994 (GRCm39)	M131V	probably benign	Het
Prmt3	A	G	7: 49,507,186 (GRCm39)	T517A	probably benign	Het
Prpf4b	A	G	13: 35,072,166 (GRCm39)	H491R	unknown	Het
Rhot1	T	A	11: 80,137,502 (GRCm39)	C335S	probably benign	Het
Robo1	C	T	16: 72,769,020 (GRCm39)		probably benign	Het
Samd3	A	T	10: 26,121,468 (GRCm39)	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,297,647 (GRCm39)	D208E	possibly damaging	Het
Spta1	A	T	1: 174,074,953 (GRCm39)	D2393V	probably damaging	Het
Tgs1	T	C	4: 3,605,840 (GRCm39)	L785P	probably damaging	Het
Tmem25	C	T	9: 44,710,116 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,038,753 (GRCm39)	Y780H	probably damaging	Het
Ttn	C	A	2: 76,557,511 (GRCm39)	W29861L	probably damaging	Het
Usp1	T	A	4: 98,819,136 (GRCm39)	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,911,148 (GRCm39)	I715T		Het
Zfp169	G	A	13: 48,651,853 (GRCm39)	Q68*	probably null	Het
Zfp418	T	A	7: 7,185,814 (GRCm39)	Y592*	probably null	Het
Zfp712	A	G	13: 67,188,976 (GRCm39)	V517A	probably benign	Het
Zfp934	A	T	13: 62,666,295 (GRCm39)	H146Q		Het
Zgrf1	T	C	3: 127,408,878 (GRCm39)	S1662P	probably damaging	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
R1331:Acat1	UTSW	9	53,496,183 (GRCm39)	missense	probably benign	0.10
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
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'- GTGACGCCCAAATACATACAGG -3'
(R):5'- GCATTAAAGTGTCAAGACCAGCTAAAG -3'

Sequencing Primer
(F):5'- GACGCCCAAATACATACAGGTAAAAC -3'
(R):5'- CAGCTAAAGTATTAAATGCACAGCTC -3'

Posted On

2020-07-28