Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01727:Aox1'

105330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aox1

Ensembl Gene

ENSMUSG00000063558

Gene Name

aldehyde oxidase 1

Synonyms

Aox-1, Aox2, retinal oxidase, Aox-2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01727

Quality Score

Status

Chromosome

Chromosomal Location

58029931-58106413 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 58073228 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 720 (C720*)

Ref Sequence

ENSEMBL: ENSMUSP00000001027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001027]

Predicted Effect

probably null
Transcript: ENSMUST00000001027
AA Change: C720*

SMART Domains

Protein: ENSMUSP00000001027
Gene: ENSMUSG00000063558
AA Change: C720*

Domain	Start	End	E-Value	Type
Pfam:Fer2	8	78	8.5e-11	PFAM
Pfam:Fer2_2	87	161	2.4e-32	PFAM
low complexity region	197	209	N/A	INTRINSIC
Pfam:FAD_binding_5	238	418	1.2e-46	PFAM
CO_deh_flav_C	425	529	8.06e-24	SMART
Ald_Xan_dh_C	593	696	6.99e-42	SMART
Pfam:Ald_Xan_dh_C2	707	1240	2.1e-176	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160168

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,121,553	A292V	probably benign	Het
Ankrd26	A	G	6: 118,511,636	L1354P	probably damaging	Het
Aqp5	T	C	15: 99,591,621	L117P	probably damaging	Het
BC005561	A	G	5: 104,519,513	T634A	probably benign	Het
Col9a3	T	C	2: 180,616,565		probably null	Het
Ctrc	T	C	4: 141,843,761	Y56C	probably damaging	Het
Dsc2	T	A	18: 20,038,200	T581S	probably benign	Het
Grap2	T	C	15: 80,634,409	I51T	probably damaging	Het
Herc2	A	G	7: 56,137,806	Y1737C	probably damaging	Het
Hook3	A	G	8: 26,070,159	M346T	probably benign	Het
Lancl1	C	T	1: 67,020,942	C108Y	probably damaging	Het
Lpin2	T	C	17: 71,246,452	C824R	probably damaging	Het
Mlip	T	C	9: 77,239,748	S88G	probably damaging	Het
Mtdh	T	G	15: 34,083,109	L25R	probably damaging	Het
Musk	A	G	4: 58,303,887	I177V	probably benign	Het
Nov	G	A	15: 54,746,238	A45T	probably benign	Het
Olfr1148	T	C	2: 87,833,500	S154P	probably damaging	Het
Olfr1186	A	G	2: 88,525,927	M115V	probably benign	Het
Olfr1504	A	G	19: 13,887,878	C111R	probably damaging	Het
Pabpc4l	C	A	3: 46,446,665	E181D	probably damaging	Het
Pcdh18	A	G	3: 49,755,700	S389P	probably damaging	Het
Ptk7	A	G	17: 46,572,548	Y864H	probably damaging	Het
Rbp4	A	G	19: 38,124,052	V155A	probably benign	Het
Rilpl1	C	T	5: 124,530,944	A14T	possibly damaging	Het
Rnf148	T	A	6: 23,655,002		probably benign	Het
Rnf219	G	A	14: 104,479,387	R517*	probably null	Het
Ska2	T	A	11: 87,116,147	L26Q	probably damaging	Het
Slc29a2	T	A	19: 5,026,458	F125I	probably damaging	Het
Smap2	A	G	4: 120,982,208		probably benign	Het
St6galnac2	C	T	11: 116,685,119	D169N	probably damaging	Het
Supt7l	A	G	5: 31,520,342	V160A	possibly damaging	Het
Susd1	A	G	4: 59,412,329		probably benign	Het
Syne1	T	C	10: 5,047,842	D375G	probably damaging	Het
Tpst2	G	A	5: 112,309,858	D351N	probably damaging	Het
Trcg1	T	C	9: 57,242,273	I376T	probably benign	Het
Trcg1	T	A	9: 57,242,594	I483N	probably damaging	Het
Tsga10	T	C	1: 37,835,274	E148G	probably damaging	Het
Zranb1	G	T	7: 132,966,620	D336Y	probably damaging	Het

Other mutations in Aox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Aox1	APN	1	58059044	missense	probably damaging	1.00
IGL01077:Aox1	APN	1	58057410	splice site	probably benign
IGL01335:Aox1	APN	1	58082153	nonsense	probably null
IGL01410:Aox1	APN	1	58106025	splice site	probably null
IGL01684:Aox1	APN	1	58077581	splice site	probably null
IGL01805:Aox1	APN	1	58081513	missense	possibly damaging	0.94
IGL01996:Aox1	APN	1	58082066	missense	probably benign	0.11
IGL02060:Aox1	APN	1	58097955	missense	possibly damaging	0.95
IGL02206:Aox1	APN	1	58065340	missense	probably benign	0.00
IGL02839:Aox1	APN	1	58068784	missense	probably benign	0.05
IGL02975:Aox1	APN	1	58068391	missense	probably damaging	1.00
IGL03062:Aox1	APN	1	58078465	missense	probably benign	0.01
IGL03286:Aox1	APN	1	58049384	missense	probably benign	0.19
IGL03335:Aox1	APN	1	58076160	missense	probably damaging	0.98
IGL03395:Aox1	APN	1	58068725	splice site	probably benign
R0048:Aox1	UTSW	1	58073212	missense	probably damaging	0.98
R0144:Aox1	UTSW	1	58070074	missense	probably benign	0.00
R0207:Aox1	UTSW	1	58105014	missense	possibly damaging	0.82
R0357:Aox1	UTSW	1	58092516	missense	probably damaging	1.00
R0383:Aox1	UTSW	1	58061241	missense	probably benign	0.00
R0399:Aox1	UTSW	1	58068849	splice site	probably null
R0465:Aox1	UTSW	1	58062207	missense	probably damaging	1.00
R0480:Aox1	UTSW	1	58043651	splice site	probably benign
R1005:Aox1	UTSW	1	58065352	missense	probably benign	0.00
R1507:Aox1	UTSW	1	58104451	missense	probably benign	0.01
R1597:Aox1	UTSW	1	58047167	missense	probably damaging	1.00
R1693:Aox1	UTSW	1	58085542	missense	probably damaging	1.00
R1709:Aox1	UTSW	1	58077474	missense	probably benign
R1869:Aox1	UTSW	1	58076103	missense	probably damaging	1.00
R1870:Aox1	UTSW	1	58076103	missense	probably damaging	1.00
R1898:Aox1	UTSW	1	58078442	missense	probably damaging	1.00
R1908:Aox1	UTSW	1	58102624	missense	probably damaging	1.00
R2002:Aox1	UTSW	1	58047141	missense	possibly damaging	0.69
R2062:Aox1	UTSW	1	58059192	splice site	probably null
R2065:Aox1	UTSW	1	58059192	splice site	probably null
R2265:Aox1	UTSW	1	58081520	missense	probably damaging	0.99
R3713:Aox1	UTSW	1	58056215	missense	probably benign	0.01
R3778:Aox1	UTSW	1	58053703	missense	possibly damaging	0.89
R4198:Aox1	UTSW	1	58085607	missense	probably benign
R4296:Aox1	UTSW	1	58057400	splice site	probably null
R4562:Aox1	UTSW	1	58059056	missense	probably damaging	0.99
R4858:Aox1	UTSW	1	58104481	missense	probably benign
R4862:Aox1	UTSW	1	58095157	missense	probably damaging	0.98
R5048:Aox1	UTSW	1	58059482	splice site	probably benign
R5127:Aox1	UTSW	1	58030026	missense	probably benign	0.00
R5139:Aox1	UTSW	1	58061297	missense	probably benign	0.03
R5157:Aox1	UTSW	1	58070063	missense	probably damaging	1.00
R5168:Aox1	UTSW	1	58049402	missense	probably damaging	1.00
R5186:Aox1	UTSW	1	58068370	missense	probably damaging	1.00
R5235:Aox1	UTSW	1	58057555	missense	possibly damaging	0.77
R5289:Aox1	UTSW	1	58092558	missense	probably damaging	0.99
R5466:Aox1	UTSW	1	58041460	missense	probably damaging	1.00
R5540:Aox1	UTSW	1	58104410	missense	probably benign	0.03
R5615:Aox1	UTSW	1	58096966	missense	probably benign
R5652:Aox1	UTSW	1	58095197	missense	probably damaging	1.00
R5920:Aox1	UTSW	1	58049472	missense	probably damaging	1.00
R6008:Aox1	UTSW	1	58077513	missense	probably damaging	1.00
R6073:Aox1	UTSW	1	58104509	critical splice donor site	probably null
R6215:Aox1	UTSW	1	58085461	missense	probably benign
R6403:Aox1	UTSW	1	58068435	missense	probably damaging	1.00
R6440:Aox1	UTSW	1	58094472	missense	probably damaging	1.00
R6601:Aox1	UTSW	1	58063506	missense	probably damaging	1.00
R6608:Aox1	UTSW	1	58057546	missense	probably benign	0.40
R6752:Aox1	UTSW	1	58047239	missense	probably benign	0.00
R6989:Aox1	UTSW	1	58085452	missense	probably damaging	1.00
R7042:Aox1	UTSW	1	58102600	missense	probably damaging	0.99
R7442:Aox1	UTSW	1	58082013	missense	probably damaging	1.00
R7506:Aox1	UTSW	1	58049403	missense	probably damaging	1.00
R7563:Aox1	UTSW	1	58047145	missense	probably benign	0.32
R7589:Aox1	UTSW	1	58041484	missense	probably damaging	1.00
R7735:Aox1	UTSW	1	58068292	missense	probably benign	0.01
R7814:Aox1	UTSW	1	58085467	missense	probably benign
R7876:Aox1	UTSW	1	58062171	nonsense	probably null
R7905:Aox1	UTSW	1	58104398	missense	possibly damaging	0.72
R7908:Aox1	UTSW	1	58106068	missense	possibly damaging	0.68
R8116:Aox1	UTSW	1	58076124	missense	probably damaging	1.00
R8179:Aox1	UTSW	1	58097958	missense	probably damaging	1.00
R8264:Aox1	UTSW	1	58053714	missense	possibly damaging	0.92
R8284:Aox1	UTSW	1	58076091	missense	probably damaging	1.00
R8415:Aox1	UTSW	1	58041479	missense	probably damaging	1.00
Z1088:Aox1	UTSW	1	58081542	missense	probably benign	0.01

Posted On

2014-01-21