Mutagenetix > Incidental Mutation

Incidental Mutation 'R8164:Acaa2'

633691

Institutional Source

Beutler Lab

Gene Symbol

Acaa2

Ensembl Gene

ENSMUSG00000036880

Gene Name

acetyl-CoA acyltransferase 2

Synonyms

0610011L04Rik, D18Ertd240e

MMRRC Submission

067590-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R8164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74912283-74939278 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 74928318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 182 (Y182*)

Ref Sequence

ENSEMBL: ENSMUSP00000037348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041053]

AlphaFold

Q8BWT1

Predicted Effect

probably null
Transcript: ENSMUST00000041053
AA Change: Y182*

SMART Domains

Protein: ENSMUSP00000037348
Gene: ENSMUSG00000036880
AA Change: Y182*

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	7	266	1.4e-95	PFAM
Pfam:Thiolase_C	273	395	9e-52	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,454 (GRCm39)	V347A	probably benign	Het
Abca13	A	T	11: 9,565,799 (GRCm39)	I4808F	probably damaging	Het
Ankrd44	A	T	1: 54,703,138 (GRCm39)	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,916,962 (GRCm39)	M70K	probably damaging	Het
Brinp1	A	T	4: 68,681,158 (GRCm39)	Y457*	probably null	Het
Brox	A	T	1: 183,062,491 (GRCm39)	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Cdhr1	A	T	14: 36,801,499 (GRCm39)	S815T	probably damaging	Het
Cnih4	A	G	1: 180,989,691 (GRCm39)	I101M	probably damaging	Het
Ctsj	T	C	13: 61,150,334 (GRCm39)	T222A	probably benign	Het
Dab2	C	A	15: 6,460,449 (GRCm39)	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,566,837 (GRCm39)	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,582,794 (GRCm39)	T326A	possibly damaging	Het
F10	A	G	8: 13,100,781 (GRCm39)	T232A	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcdh	A	G	8: 85,619,181 (GRCm39)	S128P	probably damaging	Het
Golph3l	G	A	3: 95,524,517 (GRCm39)	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,279,853 (GRCm39)	T25A	probably damaging	Het
Lcor	T	A	19: 41,573,849 (GRCm39)	V868D	probably damaging	Het
Lhx9	A	T	1: 138,760,518 (GRCm39)	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,221,199 (GRCm39)	N219Y	probably damaging	Het
Mei4	A	G	9: 81,809,642 (GRCm39)	K242E	probably damaging	Het
Morc2b	T	C	17: 33,357,014 (GRCm39)	M253V	probably damaging	Het
Myh14	A	G	7: 44,274,457 (GRCm39)	V1277A	probably benign	Het
N4bp2	T	A	5: 65,966,566 (GRCm39)	W1335R	probably damaging	Het
Naip6	T	A	13: 100,452,797 (GRCm39)	H88L	probably benign	Het
Niban1	G	A	1: 151,593,339 (GRCm39)	V675M	probably benign	Het
Nlrp1b	A	T	11: 71,119,243 (GRCm39)	H17Q	possibly damaging	Het
Or1p1b	A	T	11: 74,130,786 (GRCm39)	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,125,037 (GRCm39)	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,649,057 (GRCm39)	P729T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf39	C	G	17: 37,254,292 (GRCm39)	R105G	probably damaging	Het
Sbk1	G	A	7: 125,891,711 (GRCm39)	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,512,684 (GRCm39)	T1362A	probably benign	Het
Slc2a13	A	G	15: 91,160,281 (GRCm39)	Y558H	probably damaging	Het
Tardbp	A	T	4: 148,703,060 (GRCm39)	N301K	probably benign	Het
Tet2	G	T	3: 133,172,895 (GRCm39)	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,226,702 (GRCm39)	A1261V	probably benign	Het
Tmem131l	A	T	3: 83,833,495 (GRCm39)	Y789*	probably null	Het
Tmprss11c	T	A	5: 86,379,712 (GRCm39)	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,201,877 (GRCm39)	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,223,226 (GRCm39)	M721L	probably benign	Het
Vav3	A	G	3: 109,248,368 (GRCm39)	K5R	probably benign	Het
Wdr24	C	A	17: 26,044,923 (GRCm39)		probably null	Het
Zc3hc1	A	T	6: 30,390,895 (GRCm39)	I36K	probably damaging	Het

Other mutations in Acaa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Acaa2	APN	18	74,926,449 (GRCm39)	missense	probably damaging	1.00
IGL01413:Acaa2	APN	18	74,939,015 (GRCm39)	utr 3 prime	probably benign
R0129:Acaa2	UTSW	18	74,920,265 (GRCm39)	missense	probably damaging	0.98
R0615:Acaa2	UTSW	18	74,931,517 (GRCm39)	missense	probably benign	0.40
R0941:Acaa2	UTSW	18	74,931,414 (GRCm39)	missense	probably benign	0.00
R1432:Acaa2	UTSW	18	74,920,198 (GRCm39)	missense	probably damaging	0.99
R1911:Acaa2	UTSW	18	74,925,483 (GRCm39)	missense	probably benign	0.19
R2156:Acaa2	UTSW	18	74,926,476 (GRCm39)	critical splice donor site	probably null
R5620:Acaa2	UTSW	18	74,938,945 (GRCm39)	missense	possibly damaging	0.91
R5880:Acaa2	UTSW	18	74,937,072 (GRCm39)	missense	probably damaging	1.00
R5943:Acaa2	UTSW	18	74,925,453 (GRCm39)	missense	probably damaging	1.00
R5966:Acaa2	UTSW	18	74,937,223 (GRCm39)	missense	probably damaging	1.00
R6945:Acaa2	UTSW	18	74,926,380 (GRCm39)	missense	probably benign	0.00
R7378:Acaa2	UTSW	18	74,938,943 (GRCm39)	missense	probably benign	0.12
R7557:Acaa2	UTSW	18	74,928,230 (GRCm39)	missense	possibly damaging	0.82
R7625:Acaa2	UTSW	18	74,937,213 (GRCm39)	missense	possibly damaging	0.90
R7786:Acaa2	UTSW	18	74,925,518 (GRCm39)	missense	probably damaging	1.00
R9016:Acaa2	UTSW	18	74,932,154 (GRCm39)	missense	probably damaging	1.00
R9605:Acaa2	UTSW	18	74,932,230 (GRCm39)	missense	probably benign	0.01
X0018:Acaa2	UTSW	18	74,925,480 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGATTGGAAATAATCAATGTGATTG -3'
(R):5'- ACTAGCTTATTTCAGAAGAGAAATCC -3'

Sequencing Primer
(F):5'- AGAAATTATGGCATGCTCCTTCC -3'
(R):5'- CCCACATGAAATTTTCAGTAACAGG -3'

Posted On

2020-07-13