Mutagenetix > Incidental Mutation

Incidental Mutation 'R7786:Acaa2'

599557

Institutional Source

Beutler Lab

Gene Symbol

Acaa2

Ensembl Gene

ENSMUSG00000036880

Gene Name

acetyl-CoA acyltransferase 2

Synonyms

0610011L04Rik, D18Ertd240e

MMRRC Submission

045842-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R7786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74912283-74939278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74925518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000037348 (fasta)

Gene Model

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

AlphaFold

Q8BWT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041053
AA Change: S94P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037348
Gene: ENSMUSG00000036880
AA Change: S94P

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

0.9743

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (42/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,134 (GRCm39)	R676H	probably benign	Het
Akna	A	G	4: 63,313,199 (GRCm39)	L308P	probably benign	Het
Ambra1	G	C	2: 91,598,141 (GRCm39)	V101L	possibly damaging	Het
Arnt	A	G	3: 95,392,267 (GRCm39)	D377G	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap210	A	T	2: 69,612,092 (GRCm39)	W179R	probably damaging	Het
Cit	C	A	5: 116,001,077 (GRCm39)	Q159K	probably benign	Het
Dnah1	A	T	14: 30,984,478 (GRCm39)	H3935Q	probably damaging	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Fcrla	G	T	1: 170,748,426 (GRCm39)	P265Q	possibly damaging	Het
Gabbr1	A	T	17: 37,380,955 (GRCm39)	N766I	probably damaging	Het
Galnt14	T	A	17: 74,016,976 (GRCm39)	T27S	probably benign	Het
Garin2	T	A	12: 78,766,403 (GRCm39)	S391T	probably benign	Het
Gatad2b	T	C	3: 90,262,986 (GRCm39)	I476T	probably damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Gtf2ird1	C	A	5: 134,419,753 (GRCm39)	G71*	probably null	Het
Hdac11	T	A	6: 91,150,158 (GRCm39)	L319*	probably null	Het
Hsd11b2	T	A	8: 106,245,506 (GRCm39)	W4R	probably damaging	Het
Katnip	A	G	7: 125,464,466 (GRCm39)	I1278V	probably benign	Het
Krt76	T	A	15: 101,798,965 (GRCm39)	E240V	probably damaging	Het
Man2b1	C	T	8: 85,812,085 (GRCm39)	Q180*	probably null	Het
Megf8	T	C	7: 25,017,120 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,313,511 (GRCm39)	T892A	probably benign	Het
Mmp21	C	T	7: 133,276,764 (GRCm39)	S413N	probably benign	Het
Nav1	T	C	1: 135,397,733 (GRCm39)	D812G	probably damaging	Het
Nox4	T	A	7: 86,945,050 (GRCm39)	I71N	probably damaging	Het
Oplah	T	A	15: 76,193,916 (GRCm39)	I14F	possibly damaging	Het
Or51i2	G	A	7: 103,689,930 (GRCm39)	R309H	unknown	Het
Or52p1	T	A	7: 104,266,925 (GRCm39)	I13N	probably benign	Het
Or5w16	A	T	2: 87,576,645 (GRCm39)	Y35F	probably damaging	Het
Pik3ap1	A	G	19: 41,310,024 (GRCm39)	M432T	probably damaging	Het
Plin3	G	A	17: 56,586,757 (GRCm39)	T430I	probably benign	Het
Poc5	C	A	13: 96,541,027 (GRCm39)	Q399K	possibly damaging	Het
Ptprz1	G	A	6: 23,036,992 (GRCm39)	G2013R	probably damaging	Het
Rgs7bp	T	C	13: 105,190,568 (GRCm39)	D52G	probably benign	Het
Tenm2	A	C	11: 35,901,276 (GRCm39)	F2488V	probably damaging	Het
Tnfaip8	G	C	18: 50,180,178 (GRCm39)	A110P	unknown	Het
Tnfaip8	C	T	18: 50,180,179 (GRCm39)	A110V	unknown	Het
Top3a	C	T	11: 60,667,792 (GRCm39)	A46T	probably damaging	Het
Try10	T	A	6: 41,332,463 (GRCm39)	S40T	possibly damaging	Het
Vav2	C	A	2: 27,276,613 (GRCm39)	L70F	probably damaging	Het
Xylt1	C	A	7: 117,242,702 (GRCm39)		probably null	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
R8164:Acaa2	UTSW	18	74,928,318 (GRCm39)	nonsense	probably null
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'- CTGAGTCTCACTGGCTAGACTG -3'
(R):5'- TCTGAGAGAGTAGGGACACC -3'

Sequencing Primer
(F):5'- GACTGGCTGTAAAAAGAGCATTTCC -3'
(R):5'- GGGACACCTATTTAAAGTATGTTGTC -3'

Posted On

2019-11-26