Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Acox1'

191219

Institutional Source

Beutler Lab

Gene Symbol

Acox1

Ensembl Gene

ENSMUSG00000020777

Gene Name

acyl-Coenzyme A oxidase 1, palmitoyl

Synonyms

AOX, Acyl-CoA oxidase, D130055E20Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116171888-116199045 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 116174682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 523 (C523*)

Ref Sequence

ENSEMBL: ENSMUSP00000122185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066587] [ENSMUST00000072948] [ENSMUST00000148601]

AlphaFold

Q9R0H0

Predicted Effect

probably null
Transcript: ENSMUST00000066587
AA Change: C559*

SMART Domains

Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: C559*

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	15	133	4.4e-39	PFAM
Pfam:Acyl-CoA_dh_M	135	245	3e-13	PFAM
SCOP:d1is2a1	272	460	1e-43	SMART
Pfam:ACOX	479	659	6.4e-62	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000072948
AA Change: C559*

SMART Domains

Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: C559*

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	15	133	6.8e-38	PFAM
Pfam:Acyl-CoA_dh_M	135	195	1.3e-8	PFAM
SCOP:d1is2a1	272	460	9e-44	SMART
Pfam:ACOX	476	661	4.4e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130229

Predicted Effect

probably null
Transcript: ENSMUST00000148601
AA Change: C523*

SMART Domains

Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: C523*

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	48	97	9.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	99	159	7.3e-9	PFAM
SCOP:d1is2a1	236	424	4e-44	SMART
Pfam:ACOX	440	625	1.7e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150549

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: This gene encodes a member of the acyl-coenzyme A oxidase family. The encoded protein is localized to peroxisomes and is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-coenzyme A to 2-trans-enoyl-coenzyme A. Disruption of this gene results in microvesicular steatohepatitis, spontaneous peroxisome proliferation, and the eventual development of hepatocellular carcinomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	Het

Other mutations in Acox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Acox1	APN	11	116174505	splice site	probably benign
IGL02096:Acox1	APN	11	116178198	missense	probably damaging	0.99
IGL03128:Acox1	APN	11	116182003	missense	probably damaging	1.00
R0535:Acox1	UTSW	11	116174438	missense	possibly damaging	0.73
R1728:Acox1	UTSW	11	116198283	splice site	probably null
R1971:Acox1	UTSW	11	116198261	missense	probably benign	0.05
R3770:Acox1	UTSW	11	116174387	missense	probably damaging	1.00
R4347:Acox1	UTSW	11	116198661	missense	probably benign	0.03
R4836:Acox1	UTSW	11	116175326	missense	probably benign	0.05
R5551:Acox1	UTSW	11	116189491	missense	possibly damaging	0.73
R6662:Acox1	UTSW	11	116175323	missense	probably damaging	1.00
R6685:Acox1	UTSW	11	116180348	nonsense	probably null
R7453:Acox1	UTSW	11	116180961	missense	probably benign	0.41
R7468:Acox1	UTSW	11	116178175	missense	possibly damaging	0.87
R7750:Acox1	UTSW	11	116183580	missense	possibly damaging	0.51
R8346:Acox1	UTSW	11	116178273	missense	possibly damaging	0.74
R8798:Acox1	UTSW	11	116174357	missense	probably damaging	1.00
R8944:Acox1	UTSW	11	116175214	missense	probably damaging	1.00
R9058:Acox1	UTSW	11	116189442	missense	possibly damaging	0.75
R9164:Acox1	UTSW	11	116198347	missense	probably benign	0.03
R9189:Acox1	UTSW	11	116174405	missense	probably damaging	1.00
R9373:Acox1	UTSW	11	116174347	missense	possibly damaging	0.91
R9668:Acox1	UTSW	11	116198311	nonsense	probably null
R9766:Acox1	UTSW	11	116181041	missense	probably damaging	0.99
Z1177:Acox1	UTSW	11	116175063	missense	probably benign	0.00
Z1177:Acox1	UTSW	11	116175065	missense	probably benign	0.00
Z1177:Acox1	UTSW	11	116183545	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAGCCCCTGTGATGATGTTCC -3'
(R):5'- CATTAACAGCCTGGACAGCCTGAC -3'

Sequencing Primer
(F):5'- CCTGTGATGATGTTCCCCTAAG -3'
(R):5'- cgtcagcctcccaagtg -3'

Posted On

2014-05-14