Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Acox2'

472406

Institutional Source

Beutler Lab

Gene Symbol

Acox2

Ensembl Gene

ENSMUSG00000021751

Gene Name

acyl-Coenzyme A oxidase 2, branched chain

Synonyms

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14210420-14244262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8255793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 113 (Y113N)

Ref Sequence

ENSEMBL: ENSMUSP00000130543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000164598] [ENSMUST00000170534]

AlphaFold

Q9QXD1

Predicted Effect

probably benign
Transcript: ENSMUST00000022271
AA Change: Y113N

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

SMART Domains

Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: Y113N

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	1.2e-28	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	492	677	3.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164412

Predicted Effect

probably benign
Transcript: ENSMUST00000164598
AA Change: Y113N

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

SMART Domains

Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: Y113N

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	6.3e-29	PFAM
Pfam:Acyl-CoA_dh_M	150	260	2.8e-11	PFAM
SCOP:d1is2a1	309	478	1e-28	SMART
Pfam:ACOX	495	675	1.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170534
AA Change: Y113N

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

SMART Domains

Protein: ENSMUSP00000130543
Gene: ENSMUSG00000021751
AA Change: Y113N

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_ox_N	32	148	4.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171567

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	probably null	Het

Other mutations in Acox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Acox2	APN	14	8,246,363 (GRCm38)	missense	probably damaging	1.00
IGL01845:Acox2	APN	14	8,251,617 (GRCm38)	missense	probably damaging	1.00
IGL02830:Acox2	APN	14	8,255,298 (GRCm38)	missense	probably damaging	1.00
R0415:Acox2	UTSW	14	8,243,835 (GRCm38)	splice site	probably benign
R0535:Acox2	UTSW	14	8,256,753 (GRCm38)	missense	probably damaging	1.00
R1424:Acox2	UTSW	14	8,230,247 (GRCm38)	missense	probably benign	0.02
R1836:Acox2	UTSW	14	8,248,059 (GRCm38)	missense	possibly damaging	0.91
R1862:Acox2	UTSW	14	8,241,416 (GRCm38)	missense	probably benign	0.07
R1885:Acox2	UTSW	14	8,248,102 (GRCm38)	missense	probably benign	0.00
R2032:Acox2	UTSW	14	8,246,400 (GRCm38)	missense	probably benign	0.00
R2268:Acox2	UTSW	14	8,253,496 (GRCm38)	missense	probably damaging	0.98
R2497:Acox2	UTSW	14	8,251,612 (GRCm38)	missense	probably benign	0.00
R3032:Acox2	UTSW	14	8,253,466 (GRCm38)	missense	probably damaging	1.00
R3842:Acox2	UTSW	14	8,251,543 (GRCm38)	missense	probably damaging	1.00
R3874:Acox2	UTSW	14	8,248,061 (GRCm38)	missense	probably benign	0.00
R4763:Acox2	UTSW	14	8,241,334 (GRCm38)	missense	possibly damaging	0.81
R5072:Acox2	UTSW	14	8,241,374 (GRCm38)	nonsense	probably null
R5397:Acox2	UTSW	14	8,243,803 (GRCm38)	missense	probably benign	0.02
R7188:Acox2	UTSW	14	8,252,996 (GRCm38)	missense	possibly damaging	0.67
R7208:Acox2	UTSW	14	8,241,303 (GRCm38)	missense	probably benign	0.27
R7315:Acox2	UTSW	14	8,256,139 (GRCm38)	missense	probably damaging	0.99
R7757:Acox2	UTSW	14	8,230,166 (GRCm38)	missense	probably damaging	1.00
R7888:Acox2	UTSW	14	8,246,415 (GRCm38)	missense	probably benign	0.00
R8269:Acox2	UTSW	14	8,246,325 (GRCm38)	missense	probably benign	0.00
R8531:Acox2	UTSW	14	8,247,960 (GRCm38)	missense	probably damaging	1.00
R8536:Acox2	UTSW	14	8,256,081 (GRCm38)	missense	probably benign	0.00
R8782:Acox2	UTSW	14	8,250,035 (GRCm38)	missense	probably damaging	0.99
R8964:Acox2	UTSW	14	8,243,768 (GRCm38)	nonsense	probably null
R9183:Acox2	UTSW	14	8,251,559 (GRCm38)	missense	probably damaging	1.00
R9463:Acox2	UTSW	14	8,256,789 (GRCm38)	missense	probably damaging	1.00
R9466:Acox2	UTSW	14	8,248,092 (GRCm38)	missense	probably benign	0.12
Z1177:Acox2	UTSW	14	8,256,852 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTGATGCTTCCAAAAGAAATGACTCC -3'
(R):5'- CAGAAAGGCTTGCCTGCAAC -3'

Sequencing Primer
(F):5'- AGGCCTTCCAGAGTTGTACAGTAC -3'
(R):5'- GCTTGCCTGCAACCCATGAC -3'

Posted On

2017-03-31