Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Acox3'

343485

Institutional Source

Beutler Lab

Gene Symbol

Acox3

Ensembl Gene

ENSMUSG00000029098

Gene Name

acyl-Coenzyme A oxidase 3, pristanoyl

Synonyms

EST-s59, PCOX, pristanoyl-CoA oxidase

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35740293-35772397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35761987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 444 (N444D)

Ref Sequence

ENSEMBL: ENSMUSP00000144499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000202266]

AlphaFold

Q9EPL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000068563
AA Change: N444D

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

SMART Domains

Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: N444D

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	155	213	3e-15	PFAM
Pfam:Acyl-CoA_dh_1	297	466	6e-9	PFAM
Pfam:ACOX	507	662	5.2e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068947
AA Change: N444D

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

SMART Domains

Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: N444D

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	155	266	8.7e-18	PFAM
Pfam:Acyl-CoA_dh_1	297	466	5.5e-8	PFAM
Pfam:ACOX	510	690	6.4e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114237
AA Change: N444D

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

SMART Domains

Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: N444D

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	155	213	5.7e-15	PFAM
Pfam:Acyl-CoA_dh_1	297	466	9.4e-9	PFAM
Pfam:ACOX	507	695	1.6e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114238
AA Change: N444D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: N444D

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	198	309	1.4e-17	PFAM
Pfam:Acyl-CoA_dh_1	340	509	1.3e-7	PFAM
Pfam:ACOX	553	707	1.4e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154796

Predicted Effect

probably benign
Transcript: ENSMUST00000201106
AA Change: N10D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably damaging
Transcript: ENSMUST00000202266
AA Change: N444D

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

SMART Domains

Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: N444D

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	155	266	4.5e-18	PFAM
Pfam:Acyl-CoA_dh_1	297	466	3.2e-8	PFAM
Pfam:ACOX	510	667	1.6e-45	PFAM

Meta Mutation Damage Score

0.3329

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fancl	G	T	11: 26,418,423 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
Gnpat	T	A	8: 125,605,241 (GRCm39)		probably null	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc38a6	G	T	12: 73,335,298 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,025 (GRCm39)	R126Q	probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het
Zfp788	T	G	7: 41,297,018 (GRCm39)	I56S	probably benign	Het

Other mutations in Acox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Acox3	APN	5	35,746,096 (GRCm39)	missense	probably benign	0.02
IGL02118:Acox3	APN	5	35,758,865 (GRCm39)	missense	possibly damaging	0.55
IGL02554:Acox3	APN	5	35,765,710 (GRCm39)	missense	probably damaging	1.00
IGL03377:Acox3	APN	5	35,751,676 (GRCm39)	missense	probably damaging	1.00
R1543:Acox3	UTSW	5	35,760,352 (GRCm39)	missense	probably damaging	1.00
R1661:Acox3	UTSW	5	35,760,371 (GRCm39)	missense	probably damaging	1.00
R1665:Acox3	UTSW	5	35,760,371 (GRCm39)	missense	probably damaging	1.00
R1707:Acox3	UTSW	5	35,758,908 (GRCm39)	missense	possibly damaging	0.87
R1725:Acox3	UTSW	5	35,749,516 (GRCm39)	missense	probably benign	0.26
R1763:Acox3	UTSW	5	35,765,683 (GRCm39)	splice site	probably null
R1851:Acox3	UTSW	5	35,766,406 (GRCm39)	missense	possibly damaging	0.72
R1923:Acox3	UTSW	5	35,749,459 (GRCm39)	missense	possibly damaging	0.80
R2154:Acox3	UTSW	5	35,762,568 (GRCm39)	missense	probably damaging	1.00
R2418:Acox3	UTSW	5	35,761,982 (GRCm39)	missense	probably benign	0.21
R2892:Acox3	UTSW	5	35,751,661 (GRCm39)	missense	probably damaging	1.00
R2893:Acox3	UTSW	5	35,757,192 (GRCm39)	missense	probably benign	0.02
R2894:Acox3	UTSW	5	35,757,192 (GRCm39)	missense	probably benign	0.02
R2964:Acox3	UTSW	5	35,762,611 (GRCm39)	missense	possibly damaging	0.81
R3431:Acox3	UTSW	5	35,746,560 (GRCm39)	missense	possibly damaging	0.47
R3735:Acox3	UTSW	5	35,768,497 (GRCm39)	missense	probably benign	0.02
R3736:Acox3	UTSW	5	35,768,497 (GRCm39)	missense	probably benign	0.02
R4106:Acox3	UTSW	5	35,758,896 (GRCm39)	missense	probably damaging	0.99
R4107:Acox3	UTSW	5	35,758,896 (GRCm39)	missense	probably damaging	0.99
R4108:Acox3	UTSW	5	35,758,896 (GRCm39)	missense	probably damaging	0.99
R4862:Acox3	UTSW	5	35,747,083 (GRCm39)	missense	probably benign	0.22
R4903:Acox3	UTSW	5	35,747,080 (GRCm39)	missense	probably damaging	1.00
R4949:Acox3	UTSW	5	35,769,450 (GRCm39)	missense	probably benign	0.06
R4964:Acox3	UTSW	5	35,747,080 (GRCm39)	missense	probably damaging	1.00
R4966:Acox3	UTSW	5	35,747,080 (GRCm39)	missense	probably damaging	1.00
R5170:Acox3	UTSW	5	35,745,969 (GRCm39)	missense	probably benign	0.42
R5278:Acox3	UTSW	5	35,745,500 (GRCm39)	splice site	probably benign
R5569:Acox3	UTSW	5	35,760,377 (GRCm39)	missense	probably damaging	1.00
R5733:Acox3	UTSW	5	35,762,543 (GRCm39)	splice site	probably null
R5741:Acox3	UTSW	5	35,765,668 (GRCm39)	missense	probably benign	0.07
R6530:Acox3	UTSW	5	35,746,039 (GRCm39)	missense	possibly damaging	0.65
R6580:Acox3	UTSW	5	35,765,747 (GRCm39)	missense	probably damaging	1.00
R6736:Acox3	UTSW	5	35,746,198 (GRCm39)	critical splice donor site	probably null
R6848:Acox3	UTSW	5	35,749,528 (GRCm39)	missense	probably damaging	1.00
R7012:Acox3	UTSW	5	35,769,431 (GRCm39)	missense	probably benign	0.14
R7233:Acox3	UTSW	5	35,762,641 (GRCm39)	missense	probably benign	0.01
R7477:Acox3	UTSW	5	35,749,447 (GRCm39)	nonsense	probably null
R7837:Acox3	UTSW	5	35,768,830 (GRCm39)	critical splice acceptor site	probably null
R7844:Acox3	UTSW	5	35,764,492 (GRCm39)	missense	probably benign	0.05
R8799:Acox3	UTSW	5	35,747,052 (GRCm39)	missense	probably damaging	1.00
Z1088:Acox3	UTSW	5	35,745,566 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGAATGTTCATGTGTCATCCC -3'
(R):5'- CTGGCTTGAGAACACACCTG -3'

Sequencing Primer
(F):5'- GAATGTTCATGTGTCATCCCAAAGC -3'
(R):5'- TGACCACAAGCTTGGATCTC -3'

Posted On

2015-09-24