Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Aox4'

414442

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 #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58303526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1188 (D1188G)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: D1188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: D1188G

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,007,553 (GRCm39)	I926F	probably damaging	Het
Agap3	A	G	5: 24,692,820 (GRCm39)	N418D	probably damaging	Het
Alms1	T	C	6: 85,655,579 (GRCm39)	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441 (GRCm39)	M1L	possibly damaging	Het
Car2	T	A	3: 14,952,999 (GRCm39)	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,240,681 (GRCm39)	V107A	probably benign	Het
Catsperg2	T	C	7: 29,416,473 (GRCm39)	N313S	possibly damaging	Het
Dolk	T	C	2: 30,175,523 (GRCm39)	Y174C	probably damaging	Het
Erfe	A	G	1: 91,298,147 (GRCm39)	E219G	probably benign	Het
Ern2	T	C	7: 121,770,894 (GRCm39)	E733G	probably benign	Het
Fam228a	A	G	12: 4,787,734 (GRCm39)	F13S	probably damaging	Het
Fancd2	T	C	6: 113,545,169 (GRCm39)	V829A	probably benign	Het
Gid4	C	A	11: 60,323,169 (GRCm39)	T87N	probably benign	Het
H2-Ob	A	G	17: 34,462,466 (GRCm39)	K152R	probably benign	Het
Ifna2	T	A	4: 88,601,614 (GRCm39)	T135S	probably benign	Het
Il1rapl2	G	A	X: 137,690,429 (GRCm39)	G298D	probably damaging	Het
Mbd1	T	A	18: 74,407,825 (GRCm39)	L174*	probably null	Het
Mga	T	A	2: 119,765,994 (GRCm39)	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631 (GRCm39)	M54K	probably benign	Het
Mphosph8	T	A	14: 56,916,277 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,922 (GRCm39)		probably benign	Het
Necab1	C	T	4: 14,960,046 (GRCm39)	M300I	probably benign	Het
Nid2	G	A	14: 19,829,688 (GRCm39)	D660N	probably damaging	Het
Or2ag12	T	A	7: 106,276,754 (GRCm39)	H313L	probably benign	Het
Or9r7	T	A	10: 129,962,584 (GRCm39)	E114V	probably damaging	Het
P2ry13	A	T	3: 59,117,013 (GRCm39)	V255D	possibly damaging	Het
Peak1	C	T	9: 56,165,214 (GRCm39)	E905K	probably damaging	Het
Picalm	C	A	7: 89,843,499 (GRCm39)	Q550K	probably benign	Het
Rnf103	T	A	6: 71,487,289 (GRCm39)	V640E	possibly damaging	Het
Sec31b	T	G	19: 44,507,379 (GRCm39)	K817N	possibly damaging	Het
Shisal2a	A	T	4: 108,225,098 (GRCm39)	C155S	probably benign	Het
Skint2	C	A	4: 112,483,223 (GRCm39)	H209Q	probably benign	Het
Skint5	T	C	4: 113,798,005 (GRCm39)	S193G	probably damaging	Het
Tacr3	A	G	3: 134,635,852 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,753,680 (GRCm39)	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,200,436 (GRCm39)	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,597,931 (GRCm39)	N299K	possibly damaging	Het
Washc4	T	C	10: 83,400,327 (GRCm39)	S418P	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
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
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

2016-08-02