Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Acox2'

715024

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14210420-14244262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8256789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 25 (E25K)

Ref Sequence

ENSEMBL: ENSMUSP00000022271 (fasta)

Gene Model

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

AlphaFold

Q9QXD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022271
AA Change: E25K

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

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: E25K

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 damaging
Transcript: ENSMUST00000164598
AA Change: E25K

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

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: E25K

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 damaging
Transcript: ENSMUST00000170534
AA Change: E25K

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

SMART Domains

Protein: ENSMUSP00000130543
Gene: ENSMUSG00000021751
AA Change: E25K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,392,032 (GRCm39)	Y218C	probably benign	Het
Armc8	C	T	9: 99,378,203 (GRCm39)		probably null	Het
Aspg	G	A	12: 112,089,824 (GRCm39)	G454D	probably damaging	Het
Atp9b	T	C	18: 80,809,051 (GRCm39)	T623A		Het
Cacna1e	A	G	1: 154,357,411 (GRCm39)	L655P	probably damaging	Het
Cant1	T	A	11: 118,302,281 (GRCm39)	N12I	probably damaging	Het
Cep63	T	C	9: 102,475,382 (GRCm39)	T445A	probably benign	Het
Clstn1	A	T	4: 149,698,564 (GRCm39)	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Col4a4	T	C	1: 82,431,076 (GRCm39)	M1609V	unknown	Het
Dand5	A	T	8: 85,542,938 (GRCm39)	C179*	probably null	Het
Dbndd1	A	G	8: 124,233,547 (GRCm39)	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,306,454 (GRCm39)	I437V	probably benign	Het
Dnhd1	T	A	7: 105,344,223 (GRCm39)	S1856T	probably benign	Het
Dpp8	T	A	9: 64,973,700 (GRCm39)	Y641*	probably null	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Efl1	C	T	7: 82,426,733 (GRCm39)	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,138,709 (GRCm39)	Q83K	probably benign	Het
Firrm	A	T	1: 163,795,907 (GRCm39)	M428K	probably benign	Het
Gfm2	G	A	13: 97,286,910 (GRCm39)	A170T	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Gmip	G	A	8: 70,269,693 (GRCm39)	R596Q	possibly damaging	Het
Hook1	A	T	4: 95,910,510 (GRCm39)	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,488,526 (GRCm39)	R119C	unknown	Het
Lnpk	A	C	2: 74,381,403 (GRCm39)		probably null	Het
Lrp1	G	T	10: 127,429,334 (GRCm39)	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,285,185 (GRCm39)	P470L	probably damaging	Het
Mapre1	A	G	2: 153,606,960 (GRCm39)	N231D	probably benign	Het
Muc5b	T	A	7: 141,405,503 (GRCm39)	N937K	unknown	Het
Ndufaf7	T	C	17: 79,253,900 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,118,225 (GRCm39)	I650F	probably benign	Het
Notch1	T	C	2: 26,359,845 (GRCm39)	D1290G	probably benign	Het
Or7g27	C	T	9: 19,250,320 (GRCm39)	A188V	possibly damaging	Het
Or8b46	T	C	9: 38,450,665 (GRCm39)	I158T	probably damaging	Het
Orc4	C	T	2: 48,826,783 (GRCm39)		probably null	Het
Plekhm2	A	G	4: 141,357,949 (GRCm39)	V664A	probably benign	Het
Pom121l2	T	G	13: 22,168,402 (GRCm39)	I891S	probably benign	Het
Prkcsh	T	C	9: 21,923,982 (GRCm39)	Y425H	probably damaging	Het
Prps1l1	A	C	12: 35,035,559 (GRCm39)	T225P	probably damaging	Het
Prr18	T	G	17: 8,560,324 (GRCm39)	V160G	probably damaging	Het
Psd2	T	A	18: 36,143,798 (GRCm39)	F701L	probably damaging	Het
Sclt1	T	C	3: 41,601,931 (GRCm39)	E593G	probably damaging	Het
Sdk1	T	C	5: 141,948,548 (GRCm39)	I631T	probably benign	Het
Sirt1	A	T	10: 63,171,487 (GRCm39)	D231E	probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,624,974 (GRCm39)	N274I	probably damaging	Het
Spocd1	A	G	4: 129,847,398 (GRCm39)	Q529R		Het
Trarg1	T	A	11: 76,571,098 (GRCm39)	L38Q	probably damaging	Het
Trbv3	T	A	6: 41,025,530 (GRCm39)	L40H	probably damaging	Het
Trpm6	T	C	19: 18,761,264 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ush1g	C	A	11: 115,209,056 (GRCm39)	L379F	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Wee1	T	C	7: 109,721,917 (GRCm39)	S121P	probably damaging	Het
Zfp608	T	C	18: 55,030,274 (GRCm39)	K1222R	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
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
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
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'- ACACTCGCCTCATGGTGTTG -3'
(R):5'- GCCCTAAACAATGCCTTTTGC -3'

Sequencing Primer
(F):5'- TCATGCACCATAGGATCGTG -3'
(R):5'- GCACACAGGTTCTTGGTACC -3'

Posted On

2022-06-15