Mutagenetix > Incidental Mutation

Incidental Mutation 'R1424:Acox2'

161239

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

039480-MU

Accession Numbers

Essential gene?

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

Stock #

R1424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14210420-14244262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8230247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 632 (H632L)

Ref Sequence

ENSEMBL: ENSMUSP00000126464 (fasta)

Gene Model

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

AlphaFold

Q9QXD1

Predicted Effect

probably benign
Transcript: ENSMUST00000022271
AA Change: H632L

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

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: H632L

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

probably benign
Transcript: ENSMUST00000164598
AA Change: H632L

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

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: H632L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

97% (57/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	A	12: 72,939,669 (GRCm39)	E415*	probably null	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acad12	C	T	5: 121,742,385 (GRCm39)	A408T	probably benign	Het
Anxa5	A	T	3: 36,506,441 (GRCm39)		probably null	Het
Ap1m2	A	T	9: 21,209,500 (GRCm39)	I392N	possibly damaging	Het
Casp2	T	C	6: 42,253,725 (GRCm39)		probably benign	Het
Cel	C	T	2: 28,449,636 (GRCm39)	A243T	probably damaging	Het
Depp1	A	G	6: 116,628,966 (GRCm39)	N103S	possibly damaging	Het
Dgka	A	T	10: 128,569,202 (GRCm39)	S177T	possibly damaging	Het
Dnajc6	A	G	4: 101,496,544 (GRCm39)	T836A	possibly damaging	Het
Dock3	T	C	9: 106,790,392 (GRCm39)	S1444G	probably damaging	Het
Dtl	T	C	1: 191,293,649 (GRCm39)	D176G	probably benign	Het
Eif4g1	T	C	16: 20,497,692 (GRCm39)	I230T	probably benign	Het
Fam227a	T	A	15: 79,518,309 (GRCm39)	I328F	probably benign	Het
Fam98a	A	G	17: 75,847,173 (GRCm39)	L179S	probably damaging	Het
Fgb	A	T	3: 82,954,070 (GRCm39)	I56N	probably damaging	Het
Fmo1	C	T	1: 162,657,635 (GRCm39)	R502Q	probably damaging	Het
Fndc3a	C	T	14: 72,811,811 (GRCm39)	A340T	probably damaging	Het
Gli3	C	A	13: 15,900,899 (GRCm39)	Q1429K	probably benign	Het
Gm3443	A	T	19: 21,534,959 (GRCm39)	I75F	possibly damaging	Het
Gtpbp6	C	T	5: 110,252,155 (GRCm39)		probably null	Het
Gtsf1	A	T	15: 103,318,070 (GRCm39)	Y156*	probably null	Het
Hmcn1	T	C	1: 150,522,545 (GRCm39)	T3452A	probably benign	Het
Kcnj10	T	A	1: 172,196,822 (GRCm39)	V112E	probably damaging	Het
Lama3	C	A	18: 12,653,048 (GRCm39)	T256K	probably benign	Het
Lrrc8d	G	A	5: 105,974,782 (GRCm39)	V63M	unknown	Het
Matn3	G	T	12: 9,011,132 (GRCm39)	A348S	possibly damaging	Het
Mmp16	A	G	4: 18,112,121 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,190,594 (GRCm39)	N175S	probably damaging	Het
Or11h4	A	T	14: 50,974,521 (GRCm39)	F33I	probably benign	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Or4c35	C	T	2: 89,808,415 (GRCm39)	Q98*	probably null	Het
Or4k5	C	A	14: 50,385,922 (GRCm39)	M136I	possibly damaging	Het
Pcdhb12	T	A	18: 37,571,132 (GRCm39)	N759K	probably benign	Het
Pcsk2	T	C	2: 143,415,348 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,906,890 (GRCm39)	D2284N	probably damaging	Het
Prdm12	C	T	2: 31,533,823 (GRCm39)	R147C	probably damaging	Het
Ptprz1	A	G	6: 23,000,382 (GRCm39)	D824G	probably benign	Het
Rere	C	T	4: 150,701,495 (GRCm39)	R1292C	probably damaging	Het
Rptor	T	A	11: 119,671,419 (GRCm39)	L294*	probably null	Het
Sbf2	A	T	7: 109,914,233 (GRCm39)	C1650S	probably damaging	Het
Sdk1	C	T	5: 142,147,621 (GRCm39)	T1751I	probably damaging	Het
Sh3bp1	T	C	15: 78,787,899 (GRCm39)		probably null	Het
Shank2	T	A	7: 143,606,109 (GRCm39)	D97E	probably damaging	Het
Tab2	A	C	10: 7,795,812 (GRCm39)	S149R	possibly damaging	Het
Taok1	G	T	11: 77,440,190 (GRCm39)	R606S	probably benign	Het
Tas2r121	A	G	6: 132,677,645 (GRCm39)	L109P	probably damaging	Het
Tmem117	A	G	15: 94,829,689 (GRCm39)	M175V	probably benign	Het
Tmprss11b	T	C	5: 86,812,832 (GRCm39)	K155E	probably benign	Het
Tmtc2	G	T	10: 105,249,229 (GRCm39)	T168N	probably benign	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tsga10ip	C	T	19: 5,440,942 (GRCm39)		probably null	Het
Tuba8	A	G	6: 121,197,470 (GRCm39)	N44S	probably benign	Het
Ube2o	A	G	11: 116,434,558 (GRCm39)	V590A	probably benign	Het
Ush2a	T	G	1: 188,275,075 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,690,229 (GRCm39)	Y368*	probably null	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
IGL01845:Acox2	APN	14	8,251,617 (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
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

Predicted Primers

PCR Primer
(F):5'- ATTTCAGTTCCTGCCAGGCCAC -3'
(R):5'- AGGGATGGGACCCTAGACTTTATGC -3'

Sequencing Primer
(F):5'- GTGATTTTTCAGCTAAGCAGACTCG -3'
(R):5'- AGACTTTATGCTCACTGGGCAAG -3'

Posted On

2014-03-14