Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Acox3'

190138

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

039740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1707 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

35740293-35772397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35758908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 373 (I373N)

Ref Sequence

ENSEMBL: ENSMUSP00000067178 (fasta)

Gene Model

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

AlphaFold

Q9EPL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068563
AA Change: I373N

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: I373N

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: I373N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: I373N

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: I373N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: I373N

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 benign
Transcript: ENSMUST00000114238
AA Change: I373N

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: I373N

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

probably benign
Transcript: ENSMUST00000201106

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202266
AA Change: I373N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: I373N

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nasp	T	A	4: 116,476,133 (GRCm39)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nod2	A	C	8: 89,397,104 (GRCm39)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,741,049 (GRCm39)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	possibly damaging	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
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
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'- TAGCGCCTGTCTGGGACTACATTG -3'
(R):5'- AAGTCATTGGGCAAGCCCCAAG -3'

Sequencing Primer
(F):5'- GACTACATTGGCACCAGGTATTC -3'
(R):5'- CCCAAGCCCCAAGCTGG -3'

Posted On

2014-05-14