Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Acox3'

193186

Institutional Source

Beutler Lab

Gene Symbol

Acox3

Ensembl Gene

ENSMUSG00000029098

Gene Name

acyl-Coenzyme A oxidase 3, pristanoyl

Synonyms

EST-s59, pristanoyl-CoA oxidase, PCOX

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1763 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35583040-35615352 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 35608339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9EPL9

Predicted Effect

probably benign
Transcript: ENSMUST00000068563
AA Change: G579S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: G579S

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 benign
Transcript: ENSMUST00000068947
AA Change: G579S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: G579S

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 benign
Transcript: ENSMUST00000114237
AA Change: G579S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: G579S

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: G579S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: G579S

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 null
Transcript: ENSMUST00000201106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201659

Predicted Effect

probably benign
Transcript: ENSMUST00000202266
AA Change: G579S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: G579S

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

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly damaging	Het

Other mutations in Acox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Acox3	APN	5	35588752	missense	probably benign	0.02
IGL02118:Acox3	APN	5	35601521	missense	possibly damaging	0.55
IGL02554:Acox3	APN	5	35608366	missense	probably damaging	1.00
IGL03377:Acox3	APN	5	35594332	missense	probably damaging	1.00
R1543:Acox3	UTSW	5	35603008	missense	probably damaging	1.00
R1661:Acox3	UTSW	5	35603027	missense	probably damaging	1.00
R1665:Acox3	UTSW	5	35603027	missense	probably damaging	1.00
R1707:Acox3	UTSW	5	35601564	missense	possibly damaging	0.87
R1725:Acox3	UTSW	5	35592172	missense	probably benign	0.26
R1851:Acox3	UTSW	5	35609062	missense	possibly damaging	0.72
R1923:Acox3	UTSW	5	35592115	missense	possibly damaging	0.80
R2154:Acox3	UTSW	5	35605224	missense	probably damaging	1.00
R2418:Acox3	UTSW	5	35604638	missense	probably benign	0.21
R2892:Acox3	UTSW	5	35594317	missense	probably damaging	1.00
R2893:Acox3	UTSW	5	35599848	missense	probably benign	0.02
R2894:Acox3	UTSW	5	35599848	missense	probably benign	0.02
R2964:Acox3	UTSW	5	35605267	missense	possibly damaging	0.81
R3431:Acox3	UTSW	5	35589216	missense	possibly damaging	0.47
R3735:Acox3	UTSW	5	35611153	missense	probably benign	0.02
R3736:Acox3	UTSW	5	35611153	missense	probably benign	0.02
R4106:Acox3	UTSW	5	35601552	missense	probably damaging	0.99
R4107:Acox3	UTSW	5	35601552	missense	probably damaging	0.99
R4108:Acox3	UTSW	5	35601552	missense	probably damaging	0.99
R4579:Acox3	UTSW	5	35604643	missense	probably damaging	1.00
R4862:Acox3	UTSW	5	35589739	missense	probably benign	0.22
R4903:Acox3	UTSW	5	35589736	missense	probably damaging	1.00
R4949:Acox3	UTSW	5	35612106	missense	probably benign	0.06
R4964:Acox3	UTSW	5	35589736	missense	probably damaging	1.00
R4966:Acox3	UTSW	5	35589736	missense	probably damaging	1.00
R5170:Acox3	UTSW	5	35588625	missense	probably benign	0.42
R5278:Acox3	UTSW	5	35588156	splice site	probably benign
R5569:Acox3	UTSW	5	35603033	missense	probably damaging	1.00
R5733:Acox3	UTSW	5	35605199	splice site	probably null
R5741:Acox3	UTSW	5	35608324	missense	probably benign	0.07
R6530:Acox3	UTSW	5	35588695	missense	possibly damaging	0.65
R6580:Acox3	UTSW	5	35608403	missense	probably damaging	1.00
R6736:Acox3	UTSW	5	35588854	critical splice donor site	probably null
R6848:Acox3	UTSW	5	35592184	missense	probably damaging	1.00
R7012:Acox3	UTSW	5	35612087	missense	probably benign	0.14
R7233:Acox3	UTSW	5	35605297	missense	probably benign	0.01
R7477:Acox3	UTSW	5	35592103	nonsense	probably null
R7837:Acox3	UTSW	5	35611486	critical splice acceptor site	probably null
R7844:Acox3	UTSW	5	35607148	missense	probably benign	0.05
R8799:Acox3	UTSW	5	35589708	missense	probably damaging	1.00
Z1088:Acox3	UTSW	5	35588222	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGGCGTTCCAACATAGACCTCAG -3'
(R):5'- ACAGAGTAAGGGATCAAGCTCCCAG -3'

Sequencing Primer
(F):5'- ACATAGACCTCAGTCTCCAGTTC -3'
(R):5'- GTCAATGGCGAGAACTACTTTCAG -3'

Posted On

2014-05-23