Mutagenetix > Incidental Mutation

Incidental Mutation 'R8294:Acat2'

638873

Institutional Source

Beutler Lab

Gene Symbol

Acat2

Ensembl Gene

ENSMUSG00000023832

Gene Name

acetyl-Coenzyme A acetyltransferase 2

Synonyms

Tcp1-rs1, Tcp-1x

MMRRC Submission

067784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8294 (G1)

Quality Score

154.008

Status

Not validated

Chromosome

Chromosomal Location

13161929-13179612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13175243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 79 (I79V)

Ref Sequence

ENSEMBL: ENSMUSP00000007005 (fasta)

Gene Model

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

AlphaFold

Q8CAY6

Predicted Effect

probably benign
Transcript: ENSMUST00000007005
AA Change: I79V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832
AA Change: I79V

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

probably benign
Transcript: ENSMUST00000159697
AA Change: I47V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832
AA Change: I47V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,897,217 (GRCm39)	V632A	possibly damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Arid3a	A	T	10: 79,786,535 (GRCm39)		silent	Het
Cecr2	C	T	6: 120,710,747 (GRCm39)	A154V	probably damaging	Het
Cog3	A	C	14: 75,954,619 (GRCm39)	L650R	probably damaging	Het
Col12a1	A	T	9: 79,606,594 (GRCm39)	F610I	possibly damaging	Het
Col24a1	A	G	3: 145,186,844 (GRCm39)	D1215G	probably null	Het
Ctsh	C	G	9: 89,950,489 (GRCm39)	A219G	possibly damaging	Het
Dnah10	C	T	5: 124,859,410 (GRCm39)	L2126F	probably damaging	Het
Dock10	A	G	1: 80,488,079 (GRCm39)	V2028A	possibly damaging	Het
Ece1	T	C	4: 137,675,931 (GRCm39)	V435A	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
H4c1	A	G	13: 23,944,957 (GRCm39)	F62L	probably damaging	Het
Hk1	T	G	10: 62,131,624 (GRCm39)	I245L	probably benign	Het
Hyal6	A	C	6: 24,734,378 (GRCm39)	K104Q	possibly damaging	Het
Kalrn	T	C	16: 33,853,954 (GRCm39)	I2017V	probably benign	Het
Khdc4	C	T	3: 88,603,915 (GRCm39)	A244V	probably damaging	Het
Krt72	A	T	15: 101,694,472 (GRCm39)	L141Q	probably damaging	Het
Map3k4	C	A	17: 12,537,500 (GRCm39)	A6S	unknown	Het
Muc6	T	C	7: 141,217,263 (GRCm39)	Y2470C	possibly damaging	Het
Nrip1	A	G	16: 76,089,418 (GRCm39)	V713A	probably damaging	Het
Or10q1b	A	G	19: 13,683,010 (GRCm39)	D273G	probably benign	Het
Or11g26	A	G	14: 50,753,083 (GRCm39)	T141A	possibly damaging	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or6aa1	T	C	7: 86,044,487 (GRCm39)	Y73C	probably damaging	Het
Paip1	C	T	13: 119,587,300 (GRCm39)	T304I	possibly damaging	Het
Pde4dip	A	G	3: 97,674,694 (GRCm39)	L74P	probably damaging	Het
Prkch	T	A	12: 73,806,484 (GRCm39)	L577H	probably damaging	Het
Rp1	A	G	1: 4,416,220 (GRCm39)	S1631P	probably benign	Het
Rph3a	A	G	5: 121,099,429 (GRCm39)	F154S	probably damaging	Het
S1pr5	A	G	9: 21,156,300 (GRCm39)	V42A	possibly damaging	Het
Scaper	G	A	9: 55,517,280 (GRCm39)	L1052F	possibly damaging	Het
Slc44a2	G	T	9: 21,259,643 (GRCm39)	V597F	probably damaging	Het
Srsf1	T	A	11: 87,939,467 (GRCm39)	S116T	probably benign	Het
Ssh2	A	G	11: 77,345,027 (GRCm39)	D1004G	probably benign	Het
St3gal5	T	A	6: 72,074,816 (GRCm39)	D25E		Het
Syt17	A	T	7: 118,009,228 (GRCm39)	Y327N	probably damaging	Het
T	T	A	17: 8,653,364 (GRCm39)	M1K	probably null	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tmprss15	A	T	16: 78,868,176 (GRCm39)	C211S	probably benign	Het
Trim36	T	C	18: 46,331,588 (GRCm39)	D7G	probably benign	Het
Trip11	T	A	12: 101,811,160 (GRCm39)	K1863N	possibly damaging	Het
Vmn2r13	A	T	5: 109,322,978 (GRCm39)	S104T	probably benign	Het
Zfp977	T	C	7: 42,229,689 (GRCm39)	T279A	probably benign	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
R6219:Acat2	UTSW	17	13,179,604 (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
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

PCR Primer
(F):5'- AGTCATCTCCTGTGGGTTCC -3'
(R):5'- TGCTGCTGTGGGAACTTAGC -3'

Sequencing Primer
(F):5'- TCCTGTGGGTTCCTCAGCAG -3'
(R):5'- AAAAAGTAGGGCCTTGCTGCTTC -3'

Posted On

2020-07-28