Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Aox4'

53392

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 #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 58279934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 517 (R517*)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably null
Transcript: ENSMUST00000040442
AA Change: R517*

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: R517*

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: ENSMUST00000161833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161926

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	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
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
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

2013-06-28