Mutagenetix > Incidental Mutations

Incidental Mutation 'R5397:Acox2'

429768

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

042968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8225511-8259353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8243803 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 518 (T518A)

Ref Sequence

ENSEMBL: ENSMUSP00000126464 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022271
AA Change: T518A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: T518A

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: ENSMUST00000116361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164412

Predicted Effect

probably benign
Transcript: ENSMUST00000164598
AA Change: T518A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: T518A

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

noncoding transcript
Transcript: ENSMUST00000165169

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	A	15: 101,198,964	V254D	probably damaging	Het
Adar	T	C	3: 89,735,319	I169T	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Arap1	A	T	7: 101,384,912	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,111,493	M1037K	probably damaging	Het
Bsg	T	A	10: 79,708,795	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,541	T276A	probably damaging	Het
Capn2	A	G	1: 182,470,706	C665R	probably damaging	Het
Cast	A	G	13: 74,720,937	S248P	possibly damaging	Het
Cd68	C	T	11: 69,665,658	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,392,078	W131R	probably damaging	Het
Dhx58	A	G	11: 100,703,920	V50A	probably damaging	Het
Fam124a	A	G	14: 62,606,389	S449G	probably benign	Het
Flnc	G	A	6: 29,441,161	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpr149	A	G	3: 62,530,805	S644P	probably damaging	Het
Gucy1b1	G	A	3: 82,044,151	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,405,856	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Lig4	G	T	8: 9,972,644	R379S	probably benign	Het
Map7	G	A	10: 20,273,321	R514Q	unknown	Het
Mertk	T	A	2: 128,771,464	F467I	possibly damaging	Het
Mettl4	A	T	17: 94,727,277	Y463*	probably null	Het
Nme8	T	C	13: 19,694,379	D70G	probably damaging	Het
Npat	A	G	9: 53,570,474	N1161D	probably damaging	Het
Olfr1283	T	A	2: 111,368,940	C103S	probably benign	Het
Olfr616	T	A	7: 103,564,506	I258F	probably damaging	Het
Olfr813	T	C	10: 129,856,710	F64S	probably damaging	Het
Paxip1	A	T	5: 27,772,004		probably benign	Het
Peg10	C	CTCG	6: 4,756,453		probably benign	Het
Plxnc1	T	C	10: 94,843,752	T923A	probably benign	Het
Pms1	T	A	1: 53,192,120	K857*	probably null	Het
Ppp1r9b	A	G	11: 95,002,110	E260G	probably damaging	Het
Prpf3	A	T	3: 95,853,579	S4T	probably benign	Het
Rdh14	T	A	12: 10,394,869	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
S100a1	A	T	3: 90,512,135	M1K	probably null	Het
Slc2a5	G	A	4: 150,139,823		probably null	Het
Slc5a5	T	C	8: 70,891,179	T160A	probably damaging	Het
Srcap	T	G	7: 127,553,296		probably null	Het
Tcrg-V5	A	C	13: 19,192,558	E42D	possibly damaging	Het
Tgm6	T	A	2: 130,141,908	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,661,774	A201V	probably benign	Het
Ttc13	T	C	8: 124,675,263	T662A	possibly damaging	Het
Ttn	T	C	2: 76,725,255	T30469A	probably damaging	Het
Ube3a	T	A	7: 59,286,912	S645R	probably benign	Het
Vgll2	A	G	10: 52,025,166	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,979,075	C76*	probably null	Het
Vmn2r101	A	G	17: 19,588,842	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,332,517		probably benign	Het
Zcchc7	C	A	4: 44,926,048	A28E	probably damaging	Het

Other mutations in Acox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Acox2	APN	14	8246363	missense	probably damaging	1.00
IGL01845:Acox2	APN	14	8251617	missense	probably damaging	1.00
IGL02830:Acox2	APN	14	8255298	missense	probably damaging	1.00
R0415:Acox2	UTSW	14	8243835	splice site	probably benign
R0535:Acox2	UTSW	14	8256753	missense	probably damaging	1.00
R1424:Acox2	UTSW	14	8230247	missense	probably benign	0.02
R1836:Acox2	UTSW	14	8248059	missense	possibly damaging	0.91
R1862:Acox2	UTSW	14	8241416	missense	probably benign	0.07
R1885:Acox2	UTSW	14	8248102	missense	probably benign	0.00
R2032:Acox2	UTSW	14	8246400	missense	probably benign	0.00
R2268:Acox2	UTSW	14	8253496	missense	probably damaging	0.98
R2497:Acox2	UTSW	14	8251612	missense	probably benign	0.00
R3032:Acox2	UTSW	14	8253466	missense	probably damaging	1.00
R3842:Acox2	UTSW	14	8251543	missense	probably damaging	1.00
R3874:Acox2	UTSW	14	8248061	missense	probably benign	0.00
R4763:Acox2	UTSW	14	8241334	missense	possibly damaging	0.81
R5072:Acox2	UTSW	14	8241374	nonsense	probably null
R5950:Acox2	UTSW	14	8255793	missense	probably benign
R7188:Acox2	UTSW	14	8252996	missense	possibly damaging	0.67
R7208:Acox2	UTSW	14	8241303	missense	probably benign	0.27
R7315:Acox2	UTSW	14	8256139	missense	probably damaging	0.99
R7757:Acox2	UTSW	14	8230166	missense	probably damaging	1.00
R7888:Acox2	UTSW	14	8246415	missense	probably benign	0.00
R8269:Acox2	UTSW	14	8246325	missense	probably benign	0.00
Z1177:Acox2	UTSW	14	8256852	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCTTCCTAAGAGCTGCCAGC -3'
(R):5'- GGCCTGAAGTTACCTGAAACC -3'

Sequencing Primer
(F):5'- TTCTCTGGACTACAAGAGAGGAG -3'
(R):5'- TTAGCTGTGTGACCCTGAACAAG -3'

Posted On

2016-09-06