Mutagenetix > Incidental Mutations

Incidental Mutation 'R7233:Acox3'

562617

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35583040-35615352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35605297 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 505 (K505R)

Ref Sequence

ENSEMBL: ENSMUSP00000063412 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068563
AA Change: K505R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: K505R

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: K505R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: K505R

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: K505R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: K505R

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

SMART Domains

Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: K505R

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: ENSMUST00000202266
AA Change: K505R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: K505R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
8030462N17Rik	C	A	18: 77,635,186	V385F	probably damaging	Het
Arhgap24	A	G	5: 102,878,501	K263E	probably benign	Het
Armc2	A	T	10: 41,923,804	V686D	probably damaging	Het
Bhmt	T	A	13: 93,621,517	K229*	probably null	Het
Birc2	A	T	9: 7,827,008	C326S	probably damaging	Het
Blzf1	A	T	1: 164,295,943		probably null	Het
Camsap3	T	A	8: 3,600,371	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,339,841	T85M	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces2h	T	A	8: 105,017,456	C279S	probably damaging	Het
Cfap44	T	A	16: 44,422,408	L725Q	probably damaging	Het
Clip1	T	C	5: 123,611,859	E987G	probably damaging	Het
Cog1	G	T	11: 113,649,730	R57L	probably damaging	Het
Ctdspl	T	C	9: 119,020,046		probably null	Het
Dnttip2	T	C	3: 122,276,390	V418A	probably benign	Het
Dopey1	G	A	9: 86,521,696	A186T	probably benign	Het
Engase	T	A	11: 118,483,001	V323E	probably damaging	Het
Fam92b	A	G	8: 120,171,922	L131P	probably damaging	Het
Farsb	A	G	1: 78,471,081		probably null	Het
Fpr2	G	T	17: 17,893,504	W254L	probably damaging	Het
Frmd3	A	C	4: 74,013,786	H6P	probably benign	Het
Fscn1	C	T	5: 142,970,274	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267	I344N	probably benign	Het
Gfra4	A	T	2: 131,041,117	V194E	probably damaging	Het
Gm11639	T	C	11: 104,839,843	S1966P	possibly damaging	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gm3139	A	T	5: 94,537,665	M395L	probably benign	Het
Golgb1	T	C	16: 36,914,758	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,970,135	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,610,348	S68P	probably benign	Het
Lama2	A	T	10: 27,231,663	C784S	probably damaging	Het
Lars2	G	T	9: 123,411,954	G229*	probably null	Het
Lats2	A	T	14: 57,722,694		probably null	Het
Lgr6	A	C	1: 135,000,476		probably null	Het
Lrp1	A	T	10: 127,595,061	I373N	probably damaging	Het
Maml2	A	T	9: 13,620,771	H427L		Het
Mansc1	A	G	6: 134,621,843	V37A	probably damaging	Het
Map4k3	A	G	17: 80,597,648	V738A	possibly damaging	Het
Mastl	A	G	2: 23,133,658	I351T	probably benign	Het
Mcmdc2	T	G	1: 9,932,183		probably null	Het
Mrgprd	A	G	7: 145,321,935	D181G	possibly damaging	Het
Msra	T	C	14: 64,123,265	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307	E759G	possibly damaging	Het
Nab1	T	C	1: 52,459,219	*487W	probably null	Het
Olfr373	A	G	8: 72,100,056	T99A	probably benign	Het
Olfr490	T	A	7: 108,286,716	T137S	probably benign	Het
Pkdrej	A	G	15: 85,821,148	S196P	probably damaging	Het
Pln	A	G	10: 53,343,912	T17A	probably damaging	Het
Polrmt	A	T	10: 79,745,785		probably null	Het
Ppp1r14a	T	A	7: 29,289,524	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804	H959L	probably benign	Het
Prmt7	A	G	8: 106,220,010	T75A	probably damaging	Het
Prom1	T	C	5: 44,037,474	S319G	possibly damaging	Het
Prtg	G	A	9: 72,911,991	G1089S	probably benign	Het
Ptprd	T	C	4: 76,059,783	D596G	probably benign	Het
Rbm12	C	T	2: 156,095,974	G793S	unknown	Het
Rora	A	T	9: 69,197,522	R43*	probably null	Het
Sez6	T	C	11: 77,973,137	Y482H	probably damaging	Het
Skint2	A	T	4: 112,625,925	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,348,149		probably null	Het
Sox6	A	G	7: 115,489,809	V606A	possibly damaging	Het
Spa17	T	C	9: 37,603,291		probably null	Het
Syne1	A	C	10: 5,302,160	L2498R	probably damaging	Het
Synpo2	T	G	3: 123,117,684	H104P	probably benign	Het
Tapbp	G	T	17: 33,919,969	A46S	probably damaging	Het
Tbc1d30	C	A	10: 121,272,057	R480L	probably benign	Het
Tshz1	T	C	18: 84,014,819	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,809,042	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,327,323	D145V	probably damaging	Het
Zfp318	T	A	17: 46,406,052	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,970,597	Q238*	probably null	Het
Zfp874a	A	G	13: 67,442,657	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,662,494	K232E	probably benign	Het
Zfp982	T	A	4: 147,513,261	N358K	probably benign	Het
Zmiz1	C	T	14: 25,649,668	P417S	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
R1763:Acox3	UTSW	5	35608339	splice site	probably null
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
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
Z1088:Acox3	UTSW	5	35588222	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGTACGGATGCCTAGCCAGAG -3'
(R):5'- ATCAAGTCATGGGCAACAGG -3'

Sequencing Primer
(F):5'- TGCCTAGCCAGAGATGGAC -3'
(R):5'- CAACAGGATAGGTGGGTGCCC -3'

Posted On

2019-06-26