Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Acox1'

373259

Institutional Source

Beutler Lab

Gene Symbol

Acox1

Ensembl Gene

ENSMUSG00000020777

Gene Name

acyl-Coenzyme A oxidase 1, palmitoyl

Synonyms

Acyl-CoA oxidase, AOX, D130055E20Rik

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116062714-116089605 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116066152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 453 (S453T)

Ref Sequence

ENSEMBL: ENSMUSP00000072717 (fasta)

Gene Model

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

AlphaFold

Q9R0H0

Predicted Effect

probably benign
Transcript: ENSMUST00000066587
AA Change: S453T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: S453T

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 benign
Transcript: ENSMUST00000072948
AA Change: S453T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: S453T

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: ENSMUST00000128793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130229

Predicted Effect

probably benign
Transcript: ENSMUST00000148601
AA Change: S417T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: S417T

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

0.0764

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het

Other mutations in Acox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Acox1	APN	11	116,065,331 (GRCm39)	splice site	probably benign
IGL02096:Acox1	APN	11	116,069,024 (GRCm39)	missense	probably damaging	0.99
IGL03128:Acox1	APN	11	116,072,829 (GRCm39)	missense	probably damaging	1.00
R0535:Acox1	UTSW	11	116,065,264 (GRCm39)	missense	possibly damaging	0.73
R1718:Acox1	UTSW	11	116,065,508 (GRCm39)	nonsense	probably null
R1728:Acox1	UTSW	11	116,089,109 (GRCm39)	splice site	probably null
R1971:Acox1	UTSW	11	116,089,087 (GRCm39)	missense	probably benign	0.05
R3770:Acox1	UTSW	11	116,065,213 (GRCm39)	missense	probably damaging	1.00
R4347:Acox1	UTSW	11	116,089,487 (GRCm39)	missense	probably benign	0.03
R5551:Acox1	UTSW	11	116,080,317 (GRCm39)	missense	possibly damaging	0.73
R6662:Acox1	UTSW	11	116,066,149 (GRCm39)	missense	probably damaging	1.00
R6685:Acox1	UTSW	11	116,071,174 (GRCm39)	nonsense	probably null
R7453:Acox1	UTSW	11	116,071,787 (GRCm39)	missense	probably benign	0.41
R7468:Acox1	UTSW	11	116,069,001 (GRCm39)	missense	possibly damaging	0.87
R7750:Acox1	UTSW	11	116,074,406 (GRCm39)	missense	possibly damaging	0.51
R8346:Acox1	UTSW	11	116,069,099 (GRCm39)	missense	possibly damaging	0.74
R8798:Acox1	UTSW	11	116,065,183 (GRCm39)	missense	probably damaging	1.00
R8944:Acox1	UTSW	11	116,066,040 (GRCm39)	missense	probably damaging	1.00
R9058:Acox1	UTSW	11	116,080,268 (GRCm39)	missense	possibly damaging	0.75
R9164:Acox1	UTSW	11	116,089,173 (GRCm39)	missense	probably benign	0.03
R9189:Acox1	UTSW	11	116,065,231 (GRCm39)	missense	probably damaging	1.00
R9373:Acox1	UTSW	11	116,065,173 (GRCm39)	missense	possibly damaging	0.91
R9668:Acox1	UTSW	11	116,089,137 (GRCm39)	nonsense	probably null
R9766:Acox1	UTSW	11	116,071,867 (GRCm39)	missense	probably damaging	0.99
Z1177:Acox1	UTSW	11	116,074,371 (GRCm39)	nonsense	probably null
Z1177:Acox1	UTSW	11	116,065,891 (GRCm39)	missense	probably benign	0.00
Z1177:Acox1	UTSW	11	116,065,889 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGAAACCCATGGTTCTCACAG -3'
(R):5'- GATGACTCTAGCTGTATCAAGTTGAC -3'

Sequencing Primer
(F):5'- ATGGTTCTCACAGCTGACCTGG -3'
(R):5'- CATGAATTTAGCCAGGATAGCAC -3'

Posted On

2016-03-01