Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:Acat3'

724533

Institutional Source

Beutler Lab

Gene Symbol

Acat3

Ensembl Gene

ENSMUSG00000062480

Gene Name

acetyl-Coenzyme A acetyltransferase 3

Synonyms

ACTL

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9615 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13142720-13159482 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 13147502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 172 (Q172*)

Ref Sequence

ENSEMBL: ENSMUSP00000045912 (fasta)

Gene Model

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

AlphaFold

Q80X81

Predicted Effect

probably null
Transcript: ENSMUST00000043923
AA Change: Q172*

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: Q172*

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 null
Transcript: ENSMUST00000160378
AA Change: Q172*

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: Q172*

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
C3	A	T	17: 57,518,669 (GRCm39)	L1238Q	probably damaging	Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Commd9	T	C	2: 101,727,436 (GRCm39)	S77P	possibly damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Rtl1	G	A	12: 109,556,835 (GRCm39)	A1668V	possibly damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Samd4b	A	T	7: 28,106,714 (GRCm39)	I349K	probably damaging	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Slc35f4	A	G	14: 49,556,306 (GRCm39)	V149A	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	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
R8931:Acat3	UTSW	17	13,147,405 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Acat3	UTSW	17	13,153,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTACACCTTTACAAGCGG -3'
(R):5'- ACCATGGGACCAATTACTGTTTTG -3'

Sequencing Primer
(F):5'- AGCCTCCCTATCATCCTCACAGG -3'
(R):5'- TGAAAGTGCATGTACCCTGC -3'

Posted On

2022-09-12