Mutagenetix > Incidental Mutation

Incidental Mutation 'R6219:Acat2'

503915

Institutional Source

Beutler Lab

Gene Symbol

Acat2

Ensembl Gene

ENSMUSG00000023832

Gene Name

acetyl-Coenzyme A acetyltransferase 2

Synonyms

Tcp1-rs1, Tcp-1x

MMRRC Submission

044351-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6219 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

13161929-13179612 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 13179604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007005] [ENSMUST00000159697]

AlphaFold

Q8CAY6

Predicted Effect

probably benign
Transcript: ENSMUST00000007005

SMART Domains

Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	8e-99	PFAM
Pfam:Thiolase_C	274	396	1.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159358

Predicted Effect

probably benign
Transcript: ENSMUST00000159697

SMART Domains

Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	235	3.9e-91	PFAM
Pfam:Thiolase_C	242	364	2.4e-53	PFAM
Pfam:ACP_syn_III_C	273	364	9.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160654

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	T	C	4: 136,190,059 (GRCm39)	S147P	unknown	Het
Ano2	A	G	6: 125,792,553 (GRCm39)	D349G	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ccnf	C	A	17: 24,445,678 (GRCm39)	E523*	probably null	Het
Ccr10	C	T	11: 101,065,375 (GRCm39)	A52T	possibly damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cirop	G	T	14: 54,933,116 (GRCm39)	Q356K	noncoding transcript	Het
Cmya5	T	C	13: 93,230,951 (GRCm39)	E1379G	probably damaging	Het
Cyfip1	A	G	7: 55,558,189 (GRCm39)	D822G	possibly damaging	Het
Cyp4a29	A	C	4: 115,106,927 (GRCm39)	T195P	probably damaging	Het
Dmxl1	A	T	18: 50,035,434 (GRCm39)	T2283S	probably damaging	Het
Dnah7b	A	G	1: 46,272,745 (GRCm39)	D2291G	probably benign	Het
Dock3	T	A	9: 106,872,080 (GRCm39)	L493F	probably damaging	Het
Fbxw7	G	A	3: 84,876,520 (GRCm39)	G227D	probably damaging	Het
Fmo2	A	T	1: 162,708,085 (GRCm39)	V350D	probably damaging	Het
Glis1	C	T	4: 107,489,102 (GRCm39)	P487S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm35315	G	T	5: 110,226,410 (GRCm39)	T343K	probably benign	Het
Gpr141	A	G	13: 19,936,697 (GRCm39)	I26T	probably benign	Het
Hectd4	T	G	5: 121,446,941 (GRCm39)	V311G	possibly damaging	Het
Ino80d	C	T	1: 63,118,206 (GRCm39)	E322K	possibly damaging	Het
Irs2	A	G	8: 11,055,121 (GRCm39)	S1104P	probably damaging	Het
Lama1	T	C	17: 68,097,851 (GRCm39)	F1744L	probably benign	Het
Lcn10	A	T	2: 25,573,587 (GRCm39)	R55*	probably null	Het
Lrp2	A	T	2: 69,299,822 (GRCm39)	C3077S	probably damaging	Het
Mdc1	T	A	17: 36,161,566 (GRCm39)	S826R	probably benign	Het
Nr2c1	G	T	10: 93,999,648 (GRCm39)	V103L	probably benign	Het
Nup133	A	T	8: 124,663,612 (GRCm39)	D310E	possibly damaging	Het
Or7c70	A	G	10: 78,683,093 (GRCm39)	S219P	possibly damaging	Het
Pip5k1b	T	A	19: 24,359,187 (GRCm39)	E112D	probably damaging	Het
Pira12	A	T	7: 3,897,640 (GRCm39)	V485E	probably damaging	Het
Reln	T	C	5: 22,153,594 (GRCm39)	K2237E	probably damaging	Het
Sirt2	A	G	7: 28,466,940 (GRCm39)		probably benign	Het
Slit2	A	T	5: 48,459,770 (GRCm39)	H1350L	possibly damaging	Het
Snx15	A	G	19: 6,171,538 (GRCm39)	S179P	probably damaging	Het
Sp8	T	G	12: 118,812,402 (GRCm39)	S86A	probably benign	Het
Sptbn5	T	C	2: 119,907,803 (GRCm39)		probably benign	Het
Tfap4	A	G	16: 4,365,175 (GRCm39)	S196P	probably damaging	Het
Tgm3	T	C	2: 129,880,530 (GRCm39)		probably null	Het
Tnks2	T	C	19: 36,843,604 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,642,511 (GRCm39)		probably null	Het
Vwa3b	C	A	1: 37,139,779 (GRCm39)	Q367K	possibly damaging	Het
Zdhhc20	A	T	14: 58,078,340 (GRCm39)	V312E	probably damaging	Het

Other mutations in Acat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01920:Acat2	APN	17	13,162,912 (GRCm39)	missense	probably benign	0.00
R0243:Acat2	UTSW	17	13,162,908 (GRCm39)	missense	probably benign
R4153:Acat2	UTSW	17	13,171,153 (GRCm39)	missense	possibly damaging	0.88
R4224:Acat2	UTSW	17	13,181,772 (GRCm39)	unclassified	probably benign
R4332:Acat2	UTSW	17	13,181,782 (GRCm39)	unclassified	probably benign
R6605:Acat2	UTSW	17	13,162,774 (GRCm39)	missense	probably benign	0.07
R6683:Acat2	UTSW	17	13,162,814 (GRCm39)	missense	probably benign	0.00
R7313:Acat2	UTSW	17	13,178,893 (GRCm39)	missense	probably benign	0.18
R7566:Acat2	UTSW	17	13,166,346 (GRCm39)	missense	probably damaging	1.00
R8294:Acat2	UTSW	17	13,175,243 (GRCm39)	missense	probably benign	0.03
R9098:Acat2	UTSW	17	13,178,979 (GRCm39)	start gained	probably benign
R9341:Acat2	UTSW	17	13,167,538 (GRCm39)	missense	probably damaging	0.99
R9343:Acat2	UTSW	17	13,167,538 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2018-02-27