Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Acaa1a'

684554

Institutional Source

Beutler Lab

Gene Symbol

Acaa1a

Ensembl Gene

ENSMUSG00000036138

Gene Name

acetyl-Coenzyme A acyltransferase 1A

Synonyms

thiolase A, PTL, peroxisomal 3-ketoacyl-CoA thiolase, Acaa1, D9Ertd25e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119339676-119350299 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 119349352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039784] [ENSMUST00000170400] [ENSMUST00000175743] [ENSMUST00000176397] [ENSMUST00000176546] [ENSMUST00000177463]

AlphaFold

Q921H8

Predicted Effect

probably null
Transcript: ENSMUST00000039784

SMART Domains

Protein: ENSMUSP00000042351
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	38	291	3.6e-88	PFAM
Pfam:Thiolase_C	298	421	3e-53	PFAM
Pfam:ACP_syn_III_C	329	420	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175743

SMART Domains

Protein: ENSMUSP00000135439
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	291	4.2e-90	PFAM
Pfam:Thiolase_C	298	337	8.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176397

SMART Domains

Protein: ENSMUSP00000135191
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	152	4.9e-38	PFAM
Pfam:Thiolase_N	148	246	4.8e-34	PFAM
Pfam:Thiolase_C	214	328	5.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176546

SMART Domains

Protein: ENSMUSP00000134981
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	110	4.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177463

SMART Domains

Protein: ENSMUSP00000135310
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	199	3.2e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Acaa1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0632:Acaa1a	UTSW	9	119347818	unclassified	probably benign
R3418:Acaa1a	UTSW	9	119349490	critical splice acceptor site	probably null
R4617:Acaa1a	UTSW	9	119348940	missense	probably damaging	1.00
R4908:Acaa1a	UTSW	9	119348706	missense	probably benign
R4912:Acaa1a	UTSW	9	119342761	missense	probably damaging	1.00
R6351:Acaa1a	UTSW	9	119341564	nonsense	probably null
R6586:Acaa1a	UTSW	9	119349538	splice site	probably null
R7040:Acaa1a	UTSW	9	119349038	missense	probably damaging	1.00
R7500:Acaa1a	UTSW	9	119344498	missense	probably benign	0.00
R9173:Acaa1a	UTSW	9	119341124	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTTGGATCCTGCAAGACC -3'
(R):5'- AGGAATTCCTAGCTTCTCCACAC -3'

Sequencing Primer
(F):5'- GATCCTGCAAGACCTGTATCTGG -3'
(R):5'- TAGCTTCTCCACACAGTAGACGG -3'

Posted On

2021-10-11