Mutagenetix > Incidental Mutation

Incidental Mutation 'R8931:Acat3'

680331

Institutional Source

Beutler Lab

Gene Symbol

Acat3

Ensembl Gene

ENSMUSG00000062480

Gene Name

acetyl-Coenzyme A acetyltransferase 3

Synonyms

ACTL

MMRRC Submission

068775-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R8931 (G1)

Quality Score

123.008

Status

Not validated

Chromosome

Chromosomal Location

13142720-13159482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 13147405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 204 (P204R)

Ref Sequence

ENSEMBL: ENSMUSP00000125454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000160378]

AlphaFold

Q80X81

Predicted Effect

probably damaging
Transcript: ENSMUST00000043923
AA Change: P204R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: P204R

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	2.9e-97	PFAM
Pfam:Thiolase_C	274	396	1.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089024

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	486	1.9e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151287

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	28	535	6.3e-156	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160378
AA Change: P204R

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

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: P204R

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	5	248	5.6e-91	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b1	A	G	19: 3,968,803 (GRCm39)	I250T	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
BC051019	T	C	7: 109,315,286 (GRCm39)	E323G	probably damaging	Het
Bzw2	T	C	12: 36,184,943 (GRCm39)	N2S	possibly damaging	Het
Calm3	G	C	7: 16,651,398 (GRCm39)	F66L	probably damaging	Het
Carmil1	T	A	13: 24,338,704 (GRCm39)	T191S	probably benign	Het
Cemip2	T	A	19: 21,770,323 (GRCm39)	S104T	probably benign	Het
Cep170	A	T	1: 176,597,377 (GRCm39)	C389S	probably benign	Het
Clhc1	C	T	11: 29,510,533 (GRCm39)	Q195*	probably null	Het
Cttnbp2	A	G	6: 18,434,808 (GRCm39)	L350P	probably benign	Het
Cyp7a1	T	C	4: 6,271,238 (GRCm39)	E306G	possibly damaging	Het
Ddx25	T	C	9: 35,465,864 (GRCm39)	N119S	possibly damaging	Het
Ephx2	G	T	14: 66,322,441 (GRCm39)		probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fbln2	A	T	6: 91,246,072 (GRCm39)	I973F	probably damaging	Het
Fbn1	T	C	2: 125,202,095 (GRCm39)	I1259M	probably damaging	Het
Glis1	A	G	4: 107,421,060 (GRCm39)	H92R	probably benign	Het
Gm13283	A	C	4: 88,679,516 (GRCm39)	D169A	probably benign	Het
Gpr61	A	G	3: 108,057,470 (GRCm39)	L397P	probably benign	Het
H4c11	T	A	13: 21,919,369 (GRCm39)	I35N	probably damaging	Het
Hip1	A	T	5: 135,460,297 (GRCm39)		probably benign	Het
Hmgcs2	C	T	3: 98,203,557 (GRCm39)	A222V	probably damaging	Het
Ifna2	G	A	4: 88,601,712 (GRCm39)	T102I	probably benign	Het
Kat6b	T	C	14: 21,674,995 (GRCm39)	S387P	probably damaging	Het
Ldlr	G	A	9: 21,643,108 (GRCm39)	V45M	probably damaging	Het
Mc3r	A	T	2: 172,091,515 (GRCm39)	I246F	possibly damaging	Het
Mug1	G	C	6: 121,861,296 (GRCm39)	A1306P	probably benign	Het
Myo15a	A	G	11: 60,368,020 (GRCm39)	E260G	probably benign	Het
Naa16	A	G	14: 79,582,395 (GRCm39)	Y565H	probably damaging	Het
Ndufaf7	A	G	17: 79,244,950 (GRCm39)	Y23C	possibly damaging	Het
Nop58	G	A	1: 59,731,549 (GRCm39)		probably null	Het
Or6c33	A	T	10: 129,853,769 (GRCm39)	T180S	possibly damaging	Het
Or6c88	A	T	10: 129,406,550 (GRCm39)	T9S	probably benign	Het
Or7g19	T	A	9: 18,855,920 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,971 (GRCm39)	Q531*	probably null	Het
Pik3c2g	A	G	6: 139,821,093 (GRCm39)	T297A	probably benign	Het
Poc1b	T	C	10: 99,028,861 (GRCm39)		probably null	Het
Prb1c	G	A	6: 132,338,897 (GRCm39)	P107L		Het
Prokr2	A	G	2: 132,215,996 (GRCm39)	V155A	possibly damaging	Het
Rce1	C	T	19: 4,674,094 (GRCm39)		probably benign	Het
Rnf148	A	T	6: 23,654,704 (GRCm39)	N97K	possibly damaging	Het
Setbp1	A	G	18: 78,899,723 (GRCm39)	S1315P	probably benign	Het
Sgcz	A	G	8: 38,107,140 (GRCm39)	V124A	probably damaging	Het
Slc25a2	C	A	18: 37,771,089 (GRCm39)	G147C	probably damaging	Het
Slc28a2b	C	A	2: 122,348,983 (GRCm39)	P303Q		Het
Sod2	T	C	17: 13,227,193 (GRCm39)	L49P	probably damaging	Het
Tbc1d12	T	C	19: 38,854,098 (GRCm39)	V260A	probably benign	Het
Tcte2	C	A	17: 13,933,410 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,688,637 (GRCm39)	T2317A	probably damaging	Het
Tfcp2	T	C	15: 100,402,298 (GRCm39)	I500V	possibly damaging	Het
Trav14-3	C	A	14: 54,001,112 (GRCm39)	Q108K	probably damaging	Het
Trbv14	T	C	6: 41,112,364 (GRCm39)	Y54H	probably damaging	Het
Trpm3	T	A	19: 22,744,034 (GRCm39)	V337E	probably damaging	Het
Tsbp1	T	C	17: 34,659,328 (GRCm39)		probably benign	Het
Uox	A	T	3: 146,318,047 (GRCm39)	I14F	probably damaging	Het
Wdfy3	A	G	5: 102,065,421 (GRCm39)	V1249A	probably benign	Het
Zfp511	T	C	7: 139,617,194 (GRCm39)	Y97H	probably damaging	Het
Zfp536	G	T	7: 37,268,721 (GRCm39)	Q232K	probably benign	Het
Zng1	T	G	19: 24,932,780 (GRCm39)	K84N	probably damaging	Het

Other mutations in Acat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Acat3	APN	17	13,144,207 (GRCm39)	missense	probably benign
IGL02570:Acat3	APN	17	13,159,181 (GRCm39)	missense	probably benign
R1340:Acat3	UTSW	17	13,148,564 (GRCm39)	splice site	probably benign
R1747:Acat3	UTSW	17	13,143,695 (GRCm39)	missense	possibly damaging	0.49
R1839:Acat3	UTSW	17	13,147,493 (GRCm39)	nonsense	probably null
R2126:Acat3	UTSW	17	13,146,294 (GRCm39)	missense	probably benign	0.00
R3758:Acat3	UTSW	17	13,146,354 (GRCm39)	splice site	probably benign
R3790:Acat3	UTSW	17	13,147,460 (GRCm39)	nonsense	probably null
R4206:Acat3	UTSW	17	13,146,273 (GRCm39)	missense	possibly damaging	0.67
R8714:Acat3	UTSW	17	13,147,516 (GRCm39)	missense	probably benign	0.09
R8974:Acat3	UTSW	17	13,143,716 (GRCm39)	missense	probably damaging	0.97
R9053:Acat3	UTSW	17	13,147,402 (GRCm39)	missense	probably damaging	0.99
R9060:Acat3	UTSW	17	13,145,293 (GRCm39)	missense
R9133:Acat3	UTSW	17	13,159,176 (GRCm39)	missense	probably benign
R9292:Acat3	UTSW	17	13,146,255 (GRCm39)	missense	probably benign	0.14
R9615:Acat3	UTSW	17	13,147,502 (GRCm39)	nonsense	probably null
Z1177:Acat3	UTSW	17	13,153,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTTCCCATGTGACCG -3'
(R):5'- AAAGCCCAGCTCATGAATTTG -3'

Sequencing Primer
(F):5'- TCCAGACAAGGATGTTGCTAC -3'
(R):5'- CCAGCTCATGAATTTGCTGTTTTTG -3'

Posted On

2021-08-31