Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Acox2'

178184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

14210420-14244262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8251617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 293 (M293I)

Ref Sequence

ENSEMBL: ENSMUSP00000126464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000164598] [ENSMUST00000170534]

AlphaFold

Q9QXD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022271
AA Change: M293I

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

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: M293I

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	1.2e-28	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	492	677	3.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164412

Predicted Effect

probably damaging
Transcript: ENSMUST00000164598
AA Change: M293I

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

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: M293I

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	6.3e-29	PFAM
Pfam:Acyl-CoA_dh_M	150	260	2.8e-11	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	495	675	1.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170534

SMART Domains

Protein: ENSMUSP00000130543
Gene: ENSMUSG00000021751

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	4.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171567

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 15,164,380 (GRCm39)	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 106,435,567 (GRCm39)	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297 (GRCm39)	L384P	probably damaging	Het
Acp6	A	G	3: 97,081,123 (GRCm39)	S288G	probably benign	Het
Arhgef12	T	A	9: 42,934,137 (GRCm39)	H127L	possibly damaging	Het
Arid2	T	G	15: 96,254,678 (GRCm39)	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,226,532 (GRCm39)	Q468*	probably null	Het
Ccdc93	T	C	1: 121,390,859 (GRCm39)	I277T	probably damaging	Het
Cdh8	T	C	8: 99,825,586 (GRCm39)		probably benign	Het
Cdipt	T	C	7: 126,578,725 (GRCm39)	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610 (GRCm39)	N268S	possibly damaging	Het
Clcn3	A	T	8: 61,366,129 (GRCm39)	N814K	probably benign	Het
Col6a3	T	C	1: 90,724,293 (GRCm39)	D2019G	probably damaging	Het
Corin	C	A	5: 72,511,282 (GRCm39)	G432C	probably damaging	Het
Crppa	A	G	12: 36,597,918 (GRCm39)	R350G	probably benign	Het
Cyld	C	T	8: 89,432,403 (GRCm39)	Q134*	probably null	Het
Dhh	C	A	15: 98,795,864 (GRCm39)	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,315 (GRCm39)	V4239A	probably benign	Het
Dock2	T	C	11: 34,599,692 (GRCm39)	I296V	probably benign	Het
Gabbr1	T	C	17: 37,359,306 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,367,815 (GRCm39)		probably null	Het
Itgam	T	A	7: 127,711,644 (GRCm39)	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,590,922 (GRCm39)	V430A	probably benign	Het
Kdm4a	A	G	4: 118,017,656 (GRCm39)	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,924,960 (GRCm39)	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,028,728 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,418 (GRCm39)	C137S	possibly damaging	Het
Morc3	A	G	16: 93,657,455 (GRCm39)	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,299,751 (GRCm39)	M217K	possibly damaging	Het
Msl1	A	G	11: 98,696,191 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,083,860 (GRCm39)	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,716,675 (GRCm39)	L622P	possibly damaging	Het
Oga	T	A	19: 45,756,301 (GRCm39)	E447D	probably benign	Het
Or10q3	A	G	19: 11,847,888 (GRCm39)	S231P	probably benign	Het
Or1e33	A	G	11: 73,738,298 (GRCm39)	Y218H	probably damaging	Het
Or1j11	A	C	2: 36,312,105 (GRCm39)	K232Q	probably benign	Het
Or56b1b	T	A	7: 108,164,343 (GRCm39)	I220L	possibly damaging	Het
Or5k17	T	C	16: 58,746,929 (GRCm39)	M2V	probably benign	Het
Phf20	C	A	2: 156,118,577 (GRCm39)	S427*	probably null	Het
Pirt	G	A	11: 66,816,794 (GRCm39)	S35N	probably damaging	Het
Prss28	C	A	17: 25,529,011 (GRCm39)	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 179,925,104 (GRCm39)	C34R	probably damaging	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,514 (GRCm39)		probably benign	Het
Sh3bp2	T	A	5: 34,713,347 (GRCm39)	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,685,256 (GRCm39)	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,244,729 (GRCm39)	V622A	probably benign	Het
Thbd	A	G	2: 148,249,016 (GRCm39)	V284A	probably benign	Het
Tmc5	T	C	7: 118,251,733 (GRCm39)	F609L	possibly damaging	Het
Tnr	T	C	1: 159,695,576 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,163,177 (GRCm39)	Y881*	probably null	Het
Ttc41	A	T	10: 86,612,488 (GRCm39)	T1254S	probably benign	Het
Ttn	C	T	2: 76,640,347 (GRCm39)	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdr19	A	G	5: 65,382,709 (GRCm39)	I478V	probably damaging	Het
Zan	T	C	5: 137,379,116 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,737,414 (GRCm39)	D258V	probably damaging	Het

Other mutations in Acox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Acox2	APN	14	8,246,363 (GRCm38)	missense	probably damaging	1.00
IGL02830:Acox2	APN	14	8,255,298 (GRCm38)	missense	probably damaging	1.00
R0415:Acox2	UTSW	14	8,243,835 (GRCm38)	splice site	probably benign
R0535:Acox2	UTSW	14	8,256,753 (GRCm38)	missense	probably damaging	1.00
R1424:Acox2	UTSW	14	8,230,247 (GRCm38)	missense	probably benign	0.02
R1836:Acox2	UTSW	14	8,248,059 (GRCm38)	missense	possibly damaging	0.91
R1862:Acox2	UTSW	14	8,241,416 (GRCm38)	missense	probably benign	0.07
R1885:Acox2	UTSW	14	8,248,102 (GRCm38)	missense	probably benign	0.00
R2032:Acox2	UTSW	14	8,246,400 (GRCm38)	missense	probably benign	0.00
R2268:Acox2	UTSW	14	8,253,496 (GRCm38)	missense	probably damaging	0.98
R2497:Acox2	UTSW	14	8,251,612 (GRCm38)	missense	probably benign	0.00
R3032:Acox2	UTSW	14	8,253,466 (GRCm38)	missense	probably damaging	1.00
R3842:Acox2	UTSW	14	8,251,543 (GRCm38)	missense	probably damaging	1.00
R3874:Acox2	UTSW	14	8,248,061 (GRCm38)	missense	probably benign	0.00
R4763:Acox2	UTSW	14	8,241,334 (GRCm38)	missense	possibly damaging	0.81
R5072:Acox2	UTSW	14	8,241,374 (GRCm38)	nonsense	probably null
R5397:Acox2	UTSW	14	8,243,803 (GRCm38)	missense	probably benign	0.02
R5950:Acox2	UTSW	14	8,255,793 (GRCm38)	missense	probably benign
R7188:Acox2	UTSW	14	8,252,996 (GRCm38)	missense	possibly damaging	0.67
R7208:Acox2	UTSW	14	8,241,303 (GRCm38)	missense	probably benign	0.27
R7315:Acox2	UTSW	14	8,256,139 (GRCm38)	missense	probably damaging	0.99
R7757:Acox2	UTSW	14	8,230,166 (GRCm38)	missense	probably damaging	1.00
R7888:Acox2	UTSW	14	8,246,415 (GRCm38)	missense	probably benign	0.00
R8269:Acox2	UTSW	14	8,246,325 (GRCm38)	missense	probably benign	0.00
R8531:Acox2	UTSW	14	8,247,960 (GRCm38)	missense	probably damaging	1.00
R8536:Acox2	UTSW	14	8,256,081 (GRCm38)	missense	probably benign	0.00
R8782:Acox2	UTSW	14	8,250,035 (GRCm38)	missense	probably damaging	0.99
R8964:Acox2	UTSW	14	8,243,768 (GRCm38)	nonsense	probably null
R9183:Acox2	UTSW	14	8,251,559 (GRCm38)	missense	probably damaging	1.00
R9463:Acox2	UTSW	14	8,256,789 (GRCm38)	missense	probably damaging	1.00
R9466:Acox2	UTSW	14	8,248,092 (GRCm38)	missense	probably benign	0.12
Z1177:Acox2	UTSW	14	8,256,852 (GRCm38)	missense	probably benign	0.04

Posted On

2014-05-07