Mutagenetix > Incidental Mutation

Incidental Mutation 'R1404:Aox1'

188636

Institutional Source

Beutler Lab

Gene Symbol

Aox1

Ensembl Gene

ENSMUSG00000063558

Gene Name

aldehyde oxidase 1

Synonyms

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

MMRRC Submission

039466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1404 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58069090-58145572 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 58385371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114366]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114366

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554

Domain	Start	End	E-Value	Type
Pfam:Fer2	13	83	3.4e-9	PFAM
Pfam:Fer2_2	92	166	4.2e-30	PFAM
Pfam:FAD_binding_5	241	421	5.1e-46	PFAM
CO_deh_flav_C	428	532	1.4e-23	SMART
Ald_Xan_dh_C	604	707	4.64e-47	SMART
Pfam:Ald_Xan_dh_C2	717	1251	1.3e-178	PFAM
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1285	1303	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

100% (28/28)

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
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
Actl6a	T	C	3: 32,776,759 (GRCm39)		probably benign	Het
Aoc1l1	A	T	6: 48,952,767 (GRCm39)	T231S	probably benign	Het
Arrdc3	A	G	13: 81,031,973 (GRCm39)	T69A	probably damaging	Het
Bbs2	T	C	8: 94,808,627 (GRCm39)	K360R	probably null	Het
Cdh8	A	T	8: 100,006,250 (GRCm39)	N112K	probably damaging	Het
Ces5a	A	T	8: 94,228,809 (GRCm39)	F474I	probably damaging	Het
Dync1i1	G	A	6: 5,915,876 (GRCm39)	D253N	probably damaging	Het
Fam151b	T	C	13: 92,610,480 (GRCm39)	D103G	probably damaging	Het
Fam227b	A	G	2: 125,845,759 (GRCm39)	L410P	probably damaging	Het
Ihh	A	T	1: 74,990,372 (GRCm39)	M1K	probably null	Het
Itga6	A	G	2: 71,669,060 (GRCm39)	T617A	probably benign	Het
Itpr1	T	A	6: 108,363,609 (GRCm39)	C744S	probably benign	Het
Kif5a	T	C	10: 127,081,311 (GRCm39)	I208V	probably benign	Het
Lama4	A	G	10: 38,937,387 (GRCm39)	K659R	probably benign	Het
Lpin3	T	A	2: 160,734,310 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,270,309 (GRCm39)	E6612V	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Ncdn	T	C	4: 126,643,833 (GRCm39)	K330E	probably benign	Het
Neb	C	T	2: 52,073,287 (GRCm39)	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,503,621 (GRCm39)	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,504,026 (GRCm39)		probably benign	Het
Or4f47	G	A	2: 111,972,968 (GRCm39)	R226H	probably benign	Het
Rnf43	A	G	11: 87,625,003 (GRCm39)	E737G	possibly damaging	Het
Sardh	C	A	2: 27,129,473 (GRCm39)	W275L	probably damaging	Het
Sel1l2	C	T	2: 140,071,979 (GRCm39)		probably benign	Het
Sipa1l2	G	A	8: 126,176,712 (GRCm39)	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,117,012 (GRCm39)	Q298*	probably null	Het
Spag16	G	A	1: 69,934,439 (GRCm39)		probably benign	Het
Spink14	A	G	18: 44,161,896 (GRCm39)		probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Stx12	T	A	4: 132,598,960 (GRCm39)	I43L	probably benign	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Tollip	T	C	7: 141,438,292 (GRCm39)	M209V	probably benign	Het
Ttn	A	T	2: 76,643,312 (GRCm39)	S13202R	probably damaging	Het
Vmn2r60	T	A	7: 41,786,211 (GRCm39)	V338D	probably damaging	Het
Vwa8	T	C	14: 79,263,471 (GRCm39)	L767P	probably damaging	Het
Zfp202	C	T	9: 40,122,792 (GRCm39)	T518I	probably damaging	Het

Other mutations in Aox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Aox1	APN	1	58,098,203 (GRCm39)	missense	probably damaging	1.00
IGL01014:Aox1	APN	1	58,361,960 (GRCm39)	missense	possibly damaging	0.73
IGL01077:Aox1	APN	1	58,096,569 (GRCm39)	splice site	probably benign
IGL01288:Aox1	APN	1	58,333,566 (GRCm39)	missense	probably damaging	0.99
IGL01335:Aox1	APN	1	58,121,312 (GRCm39)	nonsense	probably null
IGL01383:Aox1	APN	1	58,333,464 (GRCm39)	missense	probably benign	0.09
IGL01410:Aox1	APN	1	58,145,184 (GRCm39)	splice site	probably null
IGL01684:Aox1	APN	1	58,116,740 (GRCm39)	splice site	probably null
IGL01727:Aox1	APN	1	58,112,387 (GRCm39)	nonsense	probably null
IGL01734:Aox1	APN	1	58,393,469 (GRCm39)	missense	possibly damaging	0.95
IGL01793:Aox1	APN	1	58,375,783 (GRCm39)	missense	possibly damaging	0.79
IGL01805:Aox1	APN	1	58,120,672 (GRCm39)	missense	possibly damaging	0.94
IGL01834:Aox1	APN	1	58,348,183 (GRCm39)	missense	possibly damaging	0.90
IGL01924:Aox1	APN	1	58,326,902 (GRCm39)	missense	possibly damaging	0.90
IGL01996:Aox1	APN	1	58,121,225 (GRCm39)	missense	probably benign	0.11
IGL02060:Aox1	APN	1	58,137,114 (GRCm39)	missense	possibly damaging	0.95
IGL02206:Aox1	APN	1	58,104,499 (GRCm39)	missense	probably benign	0.00
IGL02591:Aox1	APN	1	58,398,158 (GRCm39)	nonsense	probably null
IGL02645:Aox1	APN	1	58,373,883 (GRCm39)	missense	probably damaging	1.00
IGL02710:Aox1	APN	1	58,373,928 (GRCm39)	critical splice donor site	probably null
IGL02801:Aox1	APN	1	58,393,336 (GRCm39)	missense	probably damaging	1.00
IGL02839:Aox1	APN	1	58,107,943 (GRCm39)	missense	probably benign	0.05
IGL02975:Aox1	APN	1	58,107,550 (GRCm39)	missense	probably damaging	1.00
IGL02988:Aox1	APN	1	58,376,509 (GRCm39)	missense	probably benign
IGL03062:Aox1	APN	1	58,117,624 (GRCm39)	missense	probably benign	0.01
IGL03104:Aox1	APN	1	58,321,918 (GRCm39)	missense	probably benign
IGL03121:Aox1	APN	1	58,398,113 (GRCm39)	missense	probably damaging	1.00
IGL03191:Aox1	APN	1	58,398,228 (GRCm39)	missense	probably null	0.98
IGL03236:Aox1	APN	1	58,349,156 (GRCm39)	nonsense	probably null
IGL03286:Aox1	APN	1	58,088,543 (GRCm39)	missense	probably benign	0.19
IGL03335:Aox1	APN	1	58,115,319 (GRCm39)	missense	probably damaging	0.98
IGL03395:Aox1	APN	1	58,107,884 (GRCm39)	splice site	probably benign
IGL03409:Aox1	APN	1	58,393,588 (GRCm39)	missense	possibly damaging	0.91
PIT4362001:Aox1	UTSW	1	58,321,839 (GRCm39)	missense	probably damaging	1.00
R0035:Aox1	UTSW	1	58,393,581 (GRCm39)	missense	probably benign	0.00
R0035:Aox1	UTSW	1	58,393,581 (GRCm39)	missense	probably benign	0.00
R0048:Aox1	UTSW	1	58,112,371 (GRCm39)	missense	probably damaging	0.98
R0144:Aox1	UTSW	1	58,109,233 (GRCm39)	missense	probably benign	0.00
R0207:Aox1	UTSW	1	58,144,173 (GRCm39)	missense	possibly damaging	0.82
R0267:Aox1	UTSW	1	58,378,605 (GRCm39)	splice site	probably benign
R0357:Aox1	UTSW	1	58,131,675 (GRCm39)	missense	probably damaging	1.00
R0383:Aox1	UTSW	1	58,100,400 (GRCm39)	missense	probably benign	0.00
R0388:Aox1	UTSW	1	58,393,565 (GRCm39)	missense	probably damaging	1.00
R0399:Aox1	UTSW	1	58,108,008 (GRCm39)	splice site	probably null
R0409:Aox1	UTSW	1	58,375,783 (GRCm39)	missense	possibly damaging	0.90
R0465:Aox1	UTSW	1	58,101,366 (GRCm39)	missense	probably damaging	1.00
R0480:Aox1	UTSW	1	58,082,810 (GRCm39)	splice site	probably benign
R0547:Aox1	UTSW	1	58,349,201 (GRCm39)	missense	probably damaging	0.96
R0630:Aox1	UTSW	1	58,376,480 (GRCm39)	splice site	probably benign
R0726:Aox1	UTSW	1	58,373,941 (GRCm39)	splice site	probably benign
R0734:Aox1	UTSW	1	58,344,500 (GRCm39)	missense	probably benign	0.22
R0831:Aox1	UTSW	1	58,378,842 (GRCm39)	missense	probably benign	0.28
R0961:Aox1	UTSW	1	58,349,230 (GRCm39)	missense	probably benign	0.00
R1005:Aox1	UTSW	1	58,104,511 (GRCm39)	missense	probably benign	0.00
R1507:Aox1	UTSW	1	58,143,610 (GRCm39)	missense	probably benign	0.01
R1512:Aox1	UTSW	1	58,346,510 (GRCm39)	missense	probably benign	0.00
R1573:Aox1	UTSW	1	58,348,186 (GRCm39)	missense	probably benign	0.00
R1592:Aox1	UTSW	1	58,339,853 (GRCm39)	missense	probably benign	0.00
R1597:Aox1	UTSW	1	58,086,326 (GRCm39)	missense	probably damaging	1.00
R1693:Aox1	UTSW	1	58,124,701 (GRCm39)	missense	probably damaging	1.00
R1709:Aox1	UTSW	1	58,116,633 (GRCm39)	missense	probably benign
R1747:Aox1	UTSW	1	58,378,751 (GRCm39)	missense	probably benign	0.01
R1768:Aox1	UTSW	1	58,393,354 (GRCm39)	missense	probably benign	0.00
R1809:Aox1	UTSW	1	58,333,484 (GRCm39)	missense	probably benign
R1823:Aox1	UTSW	1	58,351,518 (GRCm39)	missense	probably benign	0.02
R1834:Aox1	UTSW	1	58,348,150 (GRCm39)	missense	probably benign	0.08
R1835:Aox1	UTSW	1	58,348,150 (GRCm39)	missense	probably benign	0.08
R1836:Aox1	UTSW	1	58,348,150 (GRCm39)	missense	probably benign	0.08
R1869:Aox1	UTSW	1	58,115,262 (GRCm39)	missense	probably damaging	1.00
R1870:Aox1	UTSW	1	58,115,262 (GRCm39)	missense	probably damaging	1.00
R1898:Aox1	UTSW	1	58,117,601 (GRCm39)	missense	probably damaging	1.00
R1908:Aox1	UTSW	1	58,141,783 (GRCm39)	missense	probably damaging	1.00
R2002:Aox1	UTSW	1	58,086,300 (GRCm39)	missense	possibly damaging	0.69
R2062:Aox1	UTSW	1	58,098,351 (GRCm39)	splice site	probably null
R2065:Aox1	UTSW	1	58,098,351 (GRCm39)	splice site	probably null
R2219:Aox1	UTSW	1	58,388,289 (GRCm39)	splice site	probably null
R2220:Aox1	UTSW	1	58,388,289 (GRCm39)	splice site	probably null
R2265:Aox1	UTSW	1	58,120,679 (GRCm39)	missense	probably damaging	0.99
R2508:Aox1	UTSW	1	58,382,832 (GRCm39)	missense	probably benign	0.38
R2942:Aox1	UTSW	1	58,376,540 (GRCm39)	missense	probably benign	0.03
R2967:Aox1	UTSW	1	58,361,993 (GRCm39)	missense	probably damaging	0.96
R3082:Aox1	UTSW	1	58,322,759 (GRCm39)	splice site	probably benign
R3161:Aox1	UTSW	1	58,343,597 (GRCm39)	missense	possibly damaging	0.91
R3408:Aox1	UTSW	1	58,382,827 (GRCm39)	missense	probably benign	0.32
R3713:Aox1	UTSW	1	58,095,374 (GRCm39)	missense	probably benign	0.01
R3778:Aox1	UTSW	1	58,092,862 (GRCm39)	missense	possibly damaging	0.89
R3803:Aox1	UTSW	1	58,329,058 (GRCm39)	splice site	probably null
R3894:Aox1	UTSW	1	58,373,837 (GRCm39)	critical splice acceptor site	probably null
R4198:Aox1	UTSW	1	58,124,766 (GRCm39)	missense	probably benign
R4214:Aox1	UTSW	1	58,346,603 (GRCm39)	critical splice donor site	probably null
R4249:Aox1	UTSW	1	58,338,978 (GRCm39)	missense	probably benign	0.01
R4296:Aox1	UTSW	1	58,096,559 (GRCm39)	splice site	probably null
R4562:Aox1	UTSW	1	58,098,215 (GRCm39)	missense	probably damaging	0.99
R4666:Aox1	UTSW	1	58,343,756 (GRCm39)	nonsense	probably null
R4668:Aox1	UTSW	1	58,373,853 (GRCm39)	missense	possibly damaging	0.63
R4703:Aox1	UTSW	1	58,398,116 (GRCm39)	missense	possibly damaging	0.78
R4758:Aox1	UTSW	1	58,371,741 (GRCm39)	missense	probably benign	0.00
R4858:Aox1	UTSW	1	58,143,640 (GRCm39)	missense	probably benign
R4862:Aox1	UTSW	1	58,134,316 (GRCm39)	missense	probably damaging	0.98
R4890:Aox1	UTSW	1	58,373,862 (GRCm39)	missense	probably benign	0.11
R4900:Aox1	UTSW	1	58,344,544 (GRCm39)	missense	probably benign
R4924:Aox1	UTSW	1	58,344,503 (GRCm39)	missense	probably damaging	1.00
R4970:Aox1	UTSW	1	58,349,254 (GRCm39)	splice site	probably null
R5048:Aox1	UTSW	1	58,098,641 (GRCm39)	splice site	probably benign
R5112:Aox1	UTSW	1	58,349,254 (GRCm39)	splice site	probably null
R5127:Aox1	UTSW	1	58,069,185 (GRCm39)	missense	probably benign	0.00
R5139:Aox1	UTSW	1	58,100,456 (GRCm39)	missense	probably benign	0.03
R5157:Aox1	UTSW	1	58,109,222 (GRCm39)	missense	probably damaging	1.00
R5168:Aox1	UTSW	1	58,088,561 (GRCm39)	missense	probably damaging	1.00
R5186:Aox1	UTSW	1	58,107,529 (GRCm39)	missense	probably damaging	1.00
R5235:Aox1	UTSW	1	58,096,714 (GRCm39)	missense	possibly damaging	0.77
R5289:Aox1	UTSW	1	58,131,717 (GRCm39)	missense	probably damaging	0.99
R5466:Aox1	UTSW	1	58,080,619 (GRCm39)	missense	probably damaging	1.00
R5540:Aox1	UTSW	1	58,143,569 (GRCm39)	missense	probably benign	0.03
R5615:Aox1	UTSW	1	58,136,125 (GRCm39)	missense	probably benign
R5652:Aox1	UTSW	1	58,134,356 (GRCm39)	missense	probably damaging	1.00
R5920:Aox1	UTSW	1	58,088,631 (GRCm39)	missense	probably damaging	1.00
R5987:Aox1	UTSW	1	58,346,518 (GRCm39)	missense	probably benign	0.00
R6008:Aox1	UTSW	1	58,116,672 (GRCm39)	missense	probably damaging	1.00
R6073:Aox1	UTSW	1	58,143,668 (GRCm39)	critical splice donor site	probably null
R6215:Aox1	UTSW	1	58,124,620 (GRCm39)	missense	probably benign
R6239:Aox1	UTSW	1	58,344,550 (GRCm39)	critical splice donor site	probably null
R6273:Aox1	UTSW	1	58,378,831 (GRCm39)	missense	probably benign	0.00
R6291:Aox1	UTSW	1	58,369,965 (GRCm39)	missense	probably damaging	0.98
R6334:Aox1	UTSW	1	58,346,566 (GRCm39)	nonsense	probably null
R6403:Aox1	UTSW	1	58,107,594 (GRCm39)	missense	probably damaging	1.00
R6440:Aox1	UTSW	1	58,133,631 (GRCm39)	missense	probably damaging	1.00
R6601:Aox1	UTSW	1	58,102,665 (GRCm39)	missense	probably damaging	1.00
R6608:Aox1	UTSW	1	58,096,705 (GRCm39)	missense	probably benign	0.40
R6752:Aox1	UTSW	1	58,086,398 (GRCm39)	missense	probably benign	0.00
R6764:Aox1	UTSW	1	58,389,441 (GRCm39)	missense	probably damaging	0.97
R6766:Aox1	UTSW	1	58,388,227 (GRCm39)	missense	possibly damaging	0.95
R6789:Aox1	UTSW	1	58,343,644 (GRCm39)	missense	probably benign	0.01
R6804:Aox1	UTSW	1	58,343,757 (GRCm39)	missense	probably benign	0.04
R6989:Aox1	UTSW	1	58,124,611 (GRCm39)	missense	probably damaging	1.00
R7007:Aox1	UTSW	1	58,370,051 (GRCm39)	missense	probably damaging	1.00
R7015:Aox1	UTSW	1	58,321,917 (GRCm39)	missense	probably benign	0.00
R7042:Aox1	UTSW	1	58,141,759 (GRCm39)	missense	probably damaging	0.99
R7055:Aox1	UTSW	1	58,338,927 (GRCm39)	missense	probably benign	0.08
R7089:Aox1	UTSW	1	58,375,808 (GRCm39)	missense	probably benign	0.01
R7157:Aox1	UTSW	1	58,322,651 (GRCm39)	missense	probably benign	0.00
R7303:Aox1	UTSW	1	58,373,924 (GRCm39)	nonsense	probably null
R7426:Aox1	UTSW	1	58,329,142 (GRCm39)	nonsense	probably null
R7442:Aox1	UTSW	1	58,121,172 (GRCm39)	missense	probably damaging	1.00
R7506:Aox1	UTSW	1	58,088,562 (GRCm39)	missense	probably damaging	1.00
R7563:Aox1	UTSW	1	58,086,304 (GRCm39)	missense	probably benign	0.32
R7589:Aox1	UTSW	1	58,080,643 (GRCm39)	missense	probably damaging	1.00
R7735:Aox1	UTSW	1	58,107,451 (GRCm39)	missense	probably benign	0.01
R7762:Aox1	UTSW	1	58,388,263 (GRCm39)	missense	probably damaging	1.00
R7814:Aox1	UTSW	1	58,124,626 (GRCm39)	missense	probably benign
R7876:Aox1	UTSW	1	58,101,330 (GRCm39)	nonsense	probably null
R7899:Aox1	UTSW	1	58,320,396 (GRCm39)	splice site	probably null
R7905:Aox1	UTSW	1	58,143,557 (GRCm39)	missense	possibly damaging	0.72
R7908:Aox1	UTSW	1	58,145,227 (GRCm39)	missense	possibly damaging	0.68
R7942:Aox1	UTSW	1	58,376,590 (GRCm39)	missense	probably damaging	1.00
R7975:Aox1	UTSW	1	58,348,187 (GRCm39)	missense	probably benign	0.02
R8029:Aox1	UTSW	1	58,382,827 (GRCm39)	missense	probably benign	0.32
R8032:Aox1	UTSW	1	58,389,442 (GRCm39)	missense	probably benign	0.01
R8116:Aox1	UTSW	1	58,115,283 (GRCm39)	missense	probably damaging	1.00
R8147:Aox1	UTSW	1	58,339,821 (GRCm39)	missense	probably benign	0.02
R8165:Aox1	UTSW	1	58,348,088 (GRCm39)	missense	probably benign	0.08
R8179:Aox1	UTSW	1	58,137,117 (GRCm39)	missense	probably damaging	1.00
R8264:Aox1	UTSW	1	58,092,873 (GRCm39)	missense	possibly damaging	0.92
R8284:Aox1	UTSW	1	58,115,250 (GRCm39)	missense	probably damaging	1.00
R8326:Aox1	UTSW	1	58,335,046 (GRCm39)	missense	probably benign
R8415:Aox1	UTSW	1	58,080,638 (GRCm39)	missense	probably damaging	1.00
R8770:Aox1	UTSW	1	58,378,763 (GRCm39)	missense	probably benign	0.10
R8946:Aox1	UTSW	1	58,145,227 (GRCm39)	missense	possibly damaging	0.68
R8973:Aox1	UTSW	1	58,329,113 (GRCm39)	missense	probably benign	0.34
R8988:Aox1	UTSW	1	58,088,625 (GRCm39)	missense	possibly damaging	0.48
R9015:Aox1	UTSW	1	58,382,851 (GRCm39)	missense	probably damaging	1.00
R9097:Aox1	UTSW	1	58,326,887 (GRCm39)	missense	possibly damaging	0.82
R9101:Aox1	UTSW	1	58,371,796 (GRCm39)	missense	probably benign	0.03
R9108:Aox1	UTSW	1	58,321,851 (GRCm39)	missense	probably damaging	1.00
R9180:Aox1	UTSW	1	58,378,777 (GRCm39)	nonsense	probably null
R9258:Aox1	UTSW	1	58,351,515 (GRCm39)	missense	probably damaging	1.00
R9293:Aox1	UTSW	1	58,361,953 (GRCm39)	missense	possibly damaging	0.86
R9296:Aox1	UTSW	1	58,124,612 (GRCm39)	missense	probably damaging	1.00
R9382:Aox1	UTSW	1	58,104,501 (GRCm39)	missense	possibly damaging	0.48
R9461:Aox1	UTSW	1	58,116,736 (GRCm39)	critical splice donor site	probably null
R9519:Aox1	UTSW	1	58,373,926 (GRCm39)	missense	probably damaging	0.98
R9581:Aox1	UTSW	1	58,370,055 (GRCm39)	critical splice donor site	probably null
Z1088:Aox1	UTSW	1	58,120,701 (GRCm39)	missense	probably benign	0.01
Z1177:Aox1	UTSW	1	58,393,556 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

Posted On

2014-05-09