Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:Acox3'

208076

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

039875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1851 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

35740293-35772397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35766406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 624 (D624V)

Ref Sequence

ENSEMBL: ENSMUSP00000109876 (fasta)

Gene Model

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

AlphaFold

Q9EPL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068563
AA Change: D624V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: D624V

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

possibly damaging
Transcript: ENSMUST00000068947
AA Change: D624V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: D624V

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

possibly damaging
Transcript: ENSMUST00000114237
AA Change: D624V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: D624V

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

possibly damaging
Transcript: ENSMUST00000114238
AA Change: D624V

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: D624V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201659

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202266
AA Change: D624V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: D624V

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,583,687 (GRCm39)	E225G	possibly damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Abi1	A	T	2: 22,840,276 (GRCm39)	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Adam6b	A	G	12: 113,455,442 (GRCm39)	D753G	probably benign	Het
Ago1	C	A	4: 126,333,788 (GRCm39)	R771L	probably benign	Het
Aktip	A	G	8: 91,852,505 (GRCm39)	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,327,150 (GRCm39)	H676Q	probably benign	Het
Arl1	G	C	10: 88,569,408 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,650,796 (GRCm39)	D928E	probably damaging	Het
AW209491	T	C	13: 14,811,318 (GRCm39)	V57A	possibly damaging	Het
B3galt4	G	T	17: 34,169,885 (GRCm39)	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,166,080 (GRCm39)	M783K	probably benign	Het
Cdon	T	G	9: 35,394,454 (GRCm39)	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,448,835 (GRCm39)	W67*	probably null	Het
Chd5	A	G	4: 152,462,727 (GRCm39)	S1356G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cpz	C	A	5: 35,659,902 (GRCm39)	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cym	T	A	3: 107,126,030 (GRCm39)	I78F	probably benign	Het
Defb8	A	T	8: 19,495,899 (GRCm39)	S54T	probably benign	Het
Dennd4a	A	G	9: 64,769,312 (GRCm39)	T433A	probably damaging	Het
Dhx29	A	G	13: 113,084,815 (GRCm39)	T678A	probably damaging	Het
Dspp	T	C	5: 104,321,951 (GRCm39)		probably null	Het
Enkur	G	T	2: 21,193,988 (GRCm39)	A195E	probably benign	Het
Ero1b	T	A	13: 12,619,292 (GRCm39)	S429T	possibly damaging	Het
Fh1	A	G	1: 175,435,452 (GRCm39)	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,478 (GRCm39)	G553V	probably damaging	Het
Fmo1	A	T	1: 162,657,554 (GRCm39)	L529*	probably null	Het
Frem1	C	A	4: 82,868,737 (GRCm39)	V1415F	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gdpgp1	A	T	7: 79,888,349 (GRCm39)	N127Y	probably damaging	Het
Gpat2	A	G	2: 127,276,739 (GRCm39)	T648A	possibly damaging	Het
Grk6	C	T	13: 55,599,591 (GRCm39)	R225*	probably null	Het
Hells	A	T	19: 38,948,120 (GRCm39)	Q682L	probably null	Het
Hspa5	T	A	2: 34,664,690 (GRCm39)	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,312,075 (GRCm39)	N893S	probably benign	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lats2	A	G	14: 57,934,912 (GRCm39)	L606P	probably damaging	Het
Map4k1	T	C	7: 28,699,209 (GRCm39)	Y521H	probably benign	Het
Marchf11	T	A	15: 26,387,916 (GRCm39)	V257E	probably damaging	Het
Med23	G	A	10: 24,786,768 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,715,395 (GRCm39)	D696G	probably benign	Het
Ms4a7	T	A	19: 11,301,788 (GRCm39)	M212L	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myh1	T	C	11: 67,095,224 (GRCm39)	Y195H	probably damaging	Het
Napb	G	T	2: 148,548,909 (GRCm39)	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585 (GRCm38)	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,073,442 (GRCm39)	I134L	possibly damaging	Het
Nup210	A	G	6: 90,993,036 (GRCm39)	L1017P	probably damaging	Het
Nup85	T	A	11: 115,472,643 (GRCm39)	I233N	probably damaging	Het
Obsl1	A	G	1: 75,469,537 (GRCm39)	V965A	probably damaging	Het
Or4c12	A	C	2: 89,774,158 (GRCm39)	Y100*	probably null	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Or6c5c	T	C	10: 129,299,370 (GRCm39)	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,160,357 (GRCm39)	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,475,631 (GRCm39)	T256S	possibly damaging	Het
Phrf1	T	C	7: 140,820,831 (GRCm39)	F153L	probably damaging	Het
Pigw	A	T	11: 84,768,874 (GRCm39)	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,036,744 (GRCm39)	S222P	probably damaging	Het
Pjvk	A	G	2: 76,487,775 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,940,875 (GRCm39)	V1355M	probably damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Scn7a	T	C	2: 66,510,635 (GRCm39)	I1256V	probably benign	Het
Sema4d	A	G	13: 51,865,258 (GRCm39)	V362A	possibly damaging	Het
Septin4	T	A	11: 87,459,741 (GRCm39)	D496E	probably damaging	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Tacc3	G	T	5: 33,825,544 (GRCm39)	V425L	probably benign	Het
Tfdp2	A	T	9: 96,179,762 (GRCm39)	K125I	probably damaging	Het
Tjp2	C	T	19: 24,076,899 (GRCm39)	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,975,077 (GRCm39)	S30*	probably null	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Tmprss9	G	A	10: 80,728,119 (GRCm39)	V570M	probably damaging	Het
Tnk2	C	A	16: 32,498,280 (GRCm39)	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,778,401 (GRCm39)	V610G	probably damaging	Het
Trim37	T	C	11: 87,109,132 (GRCm39)	F953S	probably damaging	Het
U2surp	T	A	9: 95,364,150 (GRCm39)	K589*	probably null	Het
Usp2	G	A	9: 43,987,263 (GRCm39)	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,008,926 (GRCm39)	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,273,925 (GRCm39)	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,396,488 (GRCm39)	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,726,613 (GRCm39)	L27*	probably null	Het
Zfp2	T	C	11: 50,791,915 (GRCm39)	K43E	probably benign	Het
Zfp268	T	G	4: 145,350,820 (GRCm39)		probably benign	Het
Zfp654	A	G	16: 64,605,491 (GRCm39)	Y904H	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
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
R4579:Acox3	UTSW	5	35,761,987 (GRCm39)	missense	probably damaging	1.00
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'- GAGCCAGCATGTTTCTTCCC -3'
(R):5'- CCAAGGACTTTCTTGAAATGCATAC -3'

Sequencing Primer
(F):5'- ATGTTTCTTCCCAGACATCACAGTAG -3'
(R):5'- GCCAAGCACACTGAAGTT -3'

Posted On

2014-06-23