Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:Acoxl'

26533

Institutional Source

Beutler Lab

Gene Symbol

Acoxl

Ensembl Gene

ENSMUSG00000027380

Gene Name

acyl-Coenzyme A oxidase-like

Synonyms

1200014P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P4748 () of strain 712

Quality Score

222

Status

Validated (trace)

Chromosome

Chromosomal Location

127680796-127965793 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 127928264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028859] [ENSMUST00000110344]

AlphaFold

Q9DBS4

Predicted Effect

probably benign
Transcript: ENSMUST00000028859

SMART Domains

Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	115	223	7.2e-19	PFAM
Pfam:Acyl-CoA_dh_1	254	416	1.8e-14	PFAM
Pfam:ACOX	458	599	6.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110344

SMART Domains

Protein: ENSMUSP00000105973
Gene: ENSMUSG00000027380

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_1	1	136	1.2e-9	PFAM
Pfam:ACOX	175	319	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157550

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Ephb6	C	T	6: 41,594,219 (GRCm39)	P583L	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Meis2	T	A	2: 115,694,961 (GRCm39)	Q394L	probably benign	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	probably damaging	Het

Other mutations in Acoxl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Acoxl	APN	2	127,820,724 (GRCm39)	missense	probably damaging	1.00
IGL01397:Acoxl	APN	2	127,876,811 (GRCm39)	missense	possibly damaging	0.67
IGL02502:Acoxl	APN	2	127,917,804 (GRCm39)	missense	probably damaging	1.00
gulch	UTSW	2	127,964,944 (GRCm39)	missense	probably benign	0.02
Gully	UTSW	2	127,886,311 (GRCm39)	missense	possibly damaging	0.62
R0450:Acoxl	UTSW	2	127,722,423 (GRCm39)	splice site	probably null
R0469:Acoxl	UTSW	2	127,722,423 (GRCm39)	splice site	probably null
R0510:Acoxl	UTSW	2	127,722,423 (GRCm39)	splice site	probably null
R1257:Acoxl	UTSW	2	127,886,286 (GRCm39)	missense	probably benign	0.01
R1703:Acoxl	UTSW	2	127,820,692 (GRCm39)	missense	probably damaging	0.99
R1726:Acoxl	UTSW	2	127,722,366 (GRCm39)	missense	probably damaging	1.00
R1867:Acoxl	UTSW	2	127,719,707 (GRCm39)	missense	probably damaging	1.00
R2103:Acoxl	UTSW	2	127,814,526 (GRCm39)	missense	probably damaging	0.97
R2168:Acoxl	UTSW	2	127,720,701 (GRCm39)	missense	probably damaging	1.00
R2761:Acoxl	UTSW	2	127,719,733 (GRCm39)	missense	probably benign	0.01
R3895:Acoxl	UTSW	2	127,814,445 (GRCm39)	splice site	probably benign
R4370:Acoxl	UTSW	2	127,720,708 (GRCm39)	missense	possibly damaging	0.95
R4571:Acoxl	UTSW	2	127,719,727 (GRCm39)	missense	probably damaging	1.00
R4727:Acoxl	UTSW	2	127,820,658 (GRCm39)	missense	probably damaging	1.00
R4851:Acoxl	UTSW	2	127,886,311 (GRCm39)	missense	possibly damaging	0.62
R4962:Acoxl	UTSW	2	127,917,810 (GRCm39)	missense	probably damaging	0.98
R5248:Acoxl	UTSW	2	127,917,855 (GRCm39)	critical splice donor site	probably null
R5392:Acoxl	UTSW	2	127,852,088 (GRCm39)	critical splice donor site	probably null
R5411:Acoxl	UTSW	2	127,696,821 (GRCm39)	missense	probably benign	0.00
R5418:Acoxl	UTSW	2	127,719,722 (GRCm39)	missense	probably benign	0.34
R5507:Acoxl	UTSW	2	127,726,394 (GRCm39)	missense	probably damaging	0.99
R5681:Acoxl	UTSW	2	127,814,559 (GRCm39)	missense	possibly damaging	0.93
R5738:Acoxl	UTSW	2	127,719,686 (GRCm39)	missense	probably benign	0.21
R6325:Acoxl	UTSW	2	127,964,944 (GRCm39)	missense	probably benign	0.02
R6800:Acoxl	UTSW	2	127,852,085 (GRCm39)	missense	probably damaging	1.00
R7027:Acoxl	UTSW	2	127,852,003 (GRCm39)	missense	probably benign
R7098:Acoxl	UTSW	2	127,696,835 (GRCm39)	nonsense	probably null
R7165:Acoxl	UTSW	2	127,965,028 (GRCm39)	missense	probably benign
R7395:Acoxl	UTSW	2	127,726,336 (GRCm39)	missense	probably damaging	1.00
R7697:Acoxl	UTSW	2	127,820,702 (GRCm39)	missense	probably benign	0.01
R9135:Acoxl	UTSW	2	127,696,691 (GRCm39)	start gained	probably benign
R9165:Acoxl	UTSW	2	127,726,432 (GRCm39)	missense	probably benign
R9291:Acoxl	UTSW	2	127,814,493 (GRCm39)	missense	probably damaging	1.00
R9497:Acoxl	UTSW	2	127,719,706 (GRCm39)	missense	probably damaging	1.00
R9527:Acoxl	UTSW	2	127,886,284 (GRCm39)	missense	probably benign	0.01
Z1088:Acoxl	UTSW	2	127,714,115 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACACGGATTTCAGCCCATGTAG -3'
(R):5'- TGTGCTCATTAACCAGCCACCC -3'

Sequencing Primer
(F):5'- ATTTCAGCCCATGTAGTGAGCAG -3'
(R):5'- ACTGACAAGTGTATCCCCGTG -3'

Posted On

2013-04-16