Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Aox4'

420224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

AOH2, 2310003G12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58301746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1106 (D1106G)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040442]

AlphaFold

Q3TYQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000040442
AA Change: D1106G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: D1106G

Domain	Start	End	E-Value	Type
Pfam:Fer2	12	82	1.6e-10	PFAM
Pfam:Fer2_2	91	165	4.6e-30	PFAM
Pfam:FAD_binding_5	240	421	2.7e-47	PFAM
CO_deh_flav_C	428	532	1.19e-26	SMART
Ald_Xan_dh_C	596	699	8.22e-39	SMART
Pfam:Ald_Xan_dh_C2	709	1243	1.1e-178	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161833

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Dach2	T	C	X: 112,465,937 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fgd5	T	A	6: 91,965,396 (GRCm39)	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Nup153	A	G	13: 46,854,459 (GRCm39)		probably null	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekhf2	G	T	4: 10,990,703 (GRCm39)	T213K	probably benign	Het
Plekho2	C	A	9: 65,466,776 (GRCm39)	G105W	probably damaging	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Aox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Aox4	APN	1	58,278,333 (GRCm39)	missense	probably damaging	1.00
IGL01011:Aox4	APN	1	58,279,934 (GRCm39)	nonsense	probably null
IGL01634:Aox4	APN	1	58,261,089 (GRCm39)	missense	possibly damaging	0.81
IGL01689:Aox4	APN	1	58,284,320 (GRCm39)	splice site	probably benign
IGL01874:Aox4	APN	1	58,291,243 (GRCm39)	missense	probably damaging	1.00
IGL02104:Aox4	APN	1	58,275,816 (GRCm39)	splice site	probably benign
IGL02744:Aox4	APN	1	58,294,711 (GRCm39)	missense	possibly damaging	0.90
IGL02751:Aox4	APN	1	58,298,211 (GRCm39)	missense	probably damaging	1.00
IGL03225:Aox4	APN	1	58,286,386 (GRCm39)	missense	possibly damaging	0.94
IGL03247:Aox4	APN	1	58,303,526 (GRCm39)	missense	probably damaging	1.00
BB008:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
BB018:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
R0138:Aox4	UTSW	1	58,268,025 (GRCm39)	missense	probably damaging	1.00
R0243:Aox4	UTSW	1	58,252,235 (GRCm39)	missense	probably benign
R0368:Aox4	UTSW	1	58,252,238 (GRCm39)	missense	probably benign	0.07
R0499:Aox4	UTSW	1	58,302,556 (GRCm39)	critical splice donor site	probably null
R0513:Aox4	UTSW	1	58,286,459 (GRCm39)	missense	probably damaging	1.00
R0513:Aox4	UTSW	1	58,256,678 (GRCm39)	missense	probably benign
R0546:Aox4	UTSW	1	58,289,333 (GRCm39)	missense	probably damaging	1.00
R0591:Aox4	UTSW	1	58,278,261 (GRCm39)	splice site	probably benign
R0825:Aox4	UTSW	1	58,288,068 (GRCm39)	missense	possibly damaging	0.55
R1912:Aox4	UTSW	1	58,303,561 (GRCm39)	missense	probably damaging	1.00
R1934:Aox4	UTSW	1	58,285,095 (GRCm39)	missense	probably benign	0.01
R2180:Aox4	UTSW	1	58,252,226 (GRCm39)	missense	probably benign	0.00
R2293:Aox4	UTSW	1	58,261,096 (GRCm39)	missense	probably damaging	0.99
R3017:Aox4	UTSW	1	58,274,363 (GRCm39)	missense	probably benign
R3744:Aox4	UTSW	1	58,285,029 (GRCm39)	missense	probably damaging	1.00
R3745:Aox4	UTSW	1	58,285,029 (GRCm39)	missense	probably damaging	1.00
R3830:Aox4	UTSW	1	58,294,670 (GRCm39)	missense	probably damaging	0.99
R3856:Aox4	UTSW	1	58,293,093 (GRCm39)	missense	probably damaging	1.00
R4214:Aox4	UTSW	1	58,261,051 (GRCm39)	missense	probably damaging	0.99
R4484:Aox4	UTSW	1	58,301,730 (GRCm39)	missense	probably damaging	1.00
R4706:Aox4	UTSW	1	58,305,946 (GRCm39)	missense	probably damaging	1.00
R4710:Aox4	UTSW	1	58,294,797 (GRCm39)	missense	probably damaging	1.00
R4729:Aox4	UTSW	1	58,298,236 (GRCm39)	nonsense	probably null
R4769:Aox4	UTSW	1	58,298,307 (GRCm39)	missense	probably null	1.00
R4809:Aox4	UTSW	1	58,305,808 (GRCm39)	missense	probably damaging	1.00
R4989:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5082:Aox4	UTSW	1	58,270,642 (GRCm39)	missense	possibly damaging	0.63
R5102:Aox4	UTSW	1	58,279,937 (GRCm39)	missense	probably damaging	1.00
R5114:Aox4	UTSW	1	58,285,445 (GRCm39)	missense	possibly damaging	0.89
R5133:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5134:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5185:Aox4	UTSW	1	58,293,477 (GRCm39)	missense	probably damaging	1.00
R5217:Aox4	UTSW	1	58,285,400 (GRCm39)	nonsense	probably null
R5426:Aox4	UTSW	1	58,259,253 (GRCm39)	missense	probably damaging	1.00
R5443:Aox4	UTSW	1	58,273,151 (GRCm39)	splice site	probably null
R5708:Aox4	UTSW	1	58,285,032 (GRCm39)	missense	possibly damaging	0.69
R6052:Aox4	UTSW	1	58,293,477 (GRCm39)	nonsense	probably null
R6167:Aox4	UTSW	1	58,303,094 (GRCm39)	missense	probably damaging	1.00
R6179:Aox4	UTSW	1	58,270,662 (GRCm39)	missense	probably benign
R6196:Aox4	UTSW	1	58,256,685 (GRCm39)	missense	probably damaging	1.00
R6513:Aox4	UTSW	1	58,252,212 (GRCm39)	missense	probably benign	0.01
R6781:Aox4	UTSW	1	58,284,268 (GRCm39)	missense	probably benign	0.03
R6885:Aox4	UTSW	1	58,303,537 (GRCm39)	missense	probably damaging	1.00
R7082:Aox4	UTSW	1	58,263,352 (GRCm39)	missense	possibly damaging	0.82
R7127:Aox4	UTSW	1	58,268,033 (GRCm39)	missense	probably benign	0.00
R7153:Aox4	UTSW	1	58,289,378 (GRCm39)	missense	probably damaging	0.99
R7371:Aox4	UTSW	1	58,303,013 (GRCm39)	missense	probably damaging	1.00
R7690:Aox4	UTSW	1	58,303,076 (GRCm39)	missense	probably damaging	1.00
R7745:Aox4	UTSW	1	58,279,866 (GRCm39)	missense	probably benign	0.01
R7752:Aox4	UTSW	1	58,293,107 (GRCm39)	missense	not run
R7767:Aox4	UTSW	1	58,274,366 (GRCm39)	missense	probably damaging	0.98
R7782:Aox4	UTSW	1	58,270,251 (GRCm39)	splice site	probably null
R7931:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
R7978:Aox4	UTSW	1	58,274,366 (GRCm39)	missense	probably damaging	0.98
R7982:Aox4	UTSW	1	58,296,400 (GRCm39)	missense	possibly damaging	0.81
R8316:Aox4	UTSW	1	58,293,470 (GRCm39)	missense	possibly damaging	0.69
R8361:Aox4	UTSW	1	58,279,998 (GRCm39)	missense	probably benign	0.03
R8829:Aox4	UTSW	1	58,294,649 (GRCm39)	missense	probably benign	0.01
R8832:Aox4	UTSW	1	58,294,649 (GRCm39)	missense	probably benign	0.01
R8896:Aox4	UTSW	1	58,291,233 (GRCm39)	missense	probably benign
R9103:Aox4	UTSW	1	58,296,441 (GRCm39)	missense	probably damaging	1.00
R9241:Aox4	UTSW	1	58,291,345 (GRCm39)	missense	probably damaging	1.00
R9282:Aox4	UTSW	1	58,285,028 (GRCm39)	missense	possibly damaging	0.59
R9487:Aox4	UTSW	1	58,288,097 (GRCm39)	missense	probably benign	0.00
R9493:Aox4	UTSW	1	58,286,434 (GRCm39)	missense	probably benign	0.01
R9557:Aox4	UTSW	1	58,285,095 (GRCm39)	missense	probably benign	0.00
R9616:Aox4	UTSW	1	58,268,020 (GRCm39)	missense	possibly damaging	0.81
R9644:Aox4	UTSW	1	58,267,278 (GRCm39)	missense	probably benign	0.01
R9683:Aox4	UTSW	1	58,278,462 (GRCm39)	critical splice donor site	probably null
R9727:Aox4	UTSW	1	58,286,473 (GRCm39)	missense	probably benign	0.43
R9767:Aox4	UTSW	1	58,274,357 (GRCm39)	missense	probably benign	0.05
X0021:Aox4	UTSW	1	58,286,454 (GRCm39)	nonsense	probably null
X0028:Aox4	UTSW	1	58,293,342 (GRCm39)	missense	probably damaging	0.99
Z1176:Aox4	UTSW	1	58,285,510 (GRCm39)	missense	possibly damaging	0.49

Posted On

2016-08-02