Mutagenetix > Incidental Mutation

Incidental Mutation 'R2761:Acoxl'

254027

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 #

R2761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127680796-127965793 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127719733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 165 (Y165H)

Ref Sequence

ENSEMBL: ENSMUSP00000028859 (fasta)

Gene Model

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

AlphaFold

Q9DBS4

Predicted Effect

probably benign
Transcript: ENSMUST00000028859
AA Change: Y165H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380
AA Change: Y165H

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

noncoding transcript
Transcript: ENSMUST00000126410

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,541 (GRCm39)	V910A	probably damaging	Het
1700123K08Rik	T	C	5: 138,562,436 (GRCm39)	T102A	possibly damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Cdh1	T	A	8: 107,380,481 (GRCm39)	I208N	possibly damaging	Het
Col11a2	A	G	17: 34,270,000 (GRCm39)	I477V	probably damaging	Het
Cpa2	A	G	6: 30,554,193 (GRCm39)	D271G	probably damaging	Het
Dzank1	T	C	2: 144,355,369 (GRCm39)	M109V	probably benign	Het
Hdac3	A	T	18: 38,078,779 (GRCm39)	S111T	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,151,792 (GRCm39)		probably benign	Het
Krt31	T	C	11: 99,938,691 (GRCm39)	T301A	probably benign	Het
Rad21	T	A	15: 51,846,039 (GRCm39)	K10N	probably damaging	Het
Snap47	T	C	11: 59,328,885 (GRCm39)	D139G	probably benign	Het
Tango6	C	A	8: 107,425,664 (GRCm39)	T408N	possibly 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
P4748:Acoxl	UTSW	2	127,928,264 (GRCm39)	splice site	probably benign
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
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'- AGGAGCCTCCACATCTCTTC -3'
(R):5'- GCACTGCACCCAATAGTGAC -3'

Sequencing Primer
(F):5'- CACCATGCACATCCCTTTTATGG -3'
(R):5'- TGCACCCAATAGTGACTAATGTC -3'

Posted On

2014-12-04