Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02751:Aox4'

306288

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 #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58298211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 1059 (R1059I)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: R1059I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: R1059I

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Ago2	G	A	15: 73,002,746 (GRCm39)	A162V	possibly damaging	Het
AU021092	C	A	16: 5,030,483 (GRCm39)	V304L	probably damaging	Het
Bcs1l	T	G	1: 74,628,775 (GRCm39)	F20V	probably damaging	Het
Braf	T	C	6: 39,637,801 (GRCm39)		probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Ccdc116	T	A	16: 16,959,836 (GRCm39)	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,112,187 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,521,141 (GRCm39)		probably benign	Het
Cpa4	T	A	6: 30,581,739 (GRCm39)	Y229N	probably damaging	Het
Fbp1	A	C	13: 63,022,957 (GRCm39)		probably null	Het
Gimap3	A	T	6: 48,742,172 (GRCm39)	W253R	probably benign	Het
Gm1330	G	A	2: 148,832,393 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,404,093 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,814,482 (GRCm39)	T338A	probably benign	Het
Hmg20b	A	T	10: 81,182,385 (GRCm39)		probably benign	Het
Hnrnpdl	A	G	5: 100,185,833 (GRCm39)	F151L	probably damaging	Het
Klhl30	T	A	1: 91,281,821 (GRCm39)	F141I	probably damaging	Het
Lamc3	T	A	2: 31,810,716 (GRCm39)	F862Y	probably benign	Het
Lap3	T	C	5: 45,662,138 (GRCm39)	C313R	probably damaging	Het
Lrp2	T	C	2: 69,363,806 (GRCm39)	T344A	possibly damaging	Het
Mga	A	G	2: 119,778,251 (GRCm39)	E2023G	possibly damaging	Het
Mical2	A	T	7: 111,931,243 (GRCm39)	K735N	probably benign	Het
Muc15	A	G	2: 110,562,118 (GRCm39)	T185A	probably benign	Het
Or12d17	T	C	17: 37,777,306 (GRCm39)	C70R	probably damaging	Het
Osbp2	T	C	11: 3,813,434 (GRCm39)	K145R	probably benign	Het
Pde1c	T	C	6: 56,158,673 (GRCm39)	T52A	probably damaging	Het
Pidd1	A	G	7: 141,019,076 (GRCm39)	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prep	T	A	10: 44,991,282 (GRCm39)	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,310,014 (GRCm39)		probably null	Het
Pygo1	A	T	9: 72,852,319 (GRCm39)	I169F	probably benign	Het
Rnf10	G	T	5: 115,380,725 (GRCm39)	A716E	probably benign	Het
Rtn4	G	A	11: 29,656,409 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,778,199 (GRCm39)	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,687,961 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,918,110 (GRCm39)	Y364*	probably null	Het
Syt3	A	T	7: 44,035,486 (GRCm39)	D31V	possibly damaging	Het
Tango2	G	T	16: 18,125,857 (GRCm39)	P143H	probably benign	Het
Tas2r104	A	G	6: 131,662,107 (GRCm39)	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,636,447 (GRCm39)	L201F	probably damaging	Het
Vmn1r81	A	T	7: 11,994,374 (GRCm39)	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,508,072 (GRCm39)	T351S	probably benign	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
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
IGL03369:Aox4	APN	1	58,301,746 (GRCm39)	missense	probably benign	0.01
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

2015-04-16