Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Acox2'

357057

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

042404-MU

Accession Numbers

Essential gene?

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

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14210420-14244262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8241334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 593 (H593N)

Ref Sequence

ENSEMBL: ENSMUSP00000126464 (fasta)

Gene Model

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

AlphaFold

Q9QXD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022271
AA Change: H593N

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: H593N

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

possibly damaging
Transcript: ENSMUST00000164598
AA Change: H593N

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: H593N

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

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (73/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Abhd2	A	G	7: 79,009,879 (GRCm39)	E418G	probably benign	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arhgap44	A	G	11: 64,929,991 (GRCm39)	I240T	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp10	C	T	15: 76,117,627 (GRCm39)	V920M	probably damaging	Het
Parp6	C	A	9: 59,538,648 (GRCm39)	P241H	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly 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
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'- TAATTGTGCTAAGTGTCAGCTTGTC -3'
(R):5'- AGCCATCTTGCCAAGTTTCC -3'

Sequencing Primer
(F):5'- TCTAGGCCCCAAGTTTGCAAG -3'
(R):5'- CATCTTGCCAAGTTTCCAGAATG -3'

Posted On

2015-11-11