Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02812:Aox3'

360641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58205055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 757 (V757I)

Ref Sequence

ENSEMBL: ENSMUSP00000049391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040999]

AlphaFold

G3X982

PDB Structure

Crystal structure of the mouse liver Aldehyde Oxidase 3 (mAOX3) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000040999
AA Change: V757I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: V757I

Domain	Start	End	E-Value	Type
Pfam:Fer2	12	82	1.4e-9	PFAM
Pfam:Fer2_2	91	165	1e-29	PFAM
Pfam:FAD_binding_5	239	419	1e-44	PFAM
CO_deh_flav_C	426	530	9.26e-24	SMART
Ald_Xan_dh_C	594	697	2.27e-41	SMART
Pfam:Ald_Xan_dh_C2	708	1241	8.7e-183	PFAM
low complexity region	1275	1286	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160815

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,841,881 (GRCm39)	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,643,516 (GRCm39)	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,945,873 (GRCm39)	E2V	possibly damaging	Het
Aqp4	T	C	18: 15,530,632 (GRCm39)		probably null	Het
Arhgef7	A	G	8: 11,831,245 (GRCm39)		probably benign	Het
Armc9	T	A	1: 86,172,293 (GRCm39)	D2E	probably damaging	Het
Celsr2	G	A	3: 108,321,429 (GRCm39)	P461L	probably benign	Het
Cep170	T	C	1: 176,570,080 (GRCm39)	D1339G	probably damaging	Het
Clk1	T	A	1: 58,453,635 (GRCm39)	N317I	probably damaging	Het
Comp	G	A	8: 70,829,337 (GRCm39)	G305S	possibly damaging	Het
Depdc5	G	A	5: 33,050,712 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,059,712 (GRCm39)	E131G	probably damaging	Het
Ecpas	T	A	4: 58,864,343 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Epha2	A	G	4: 141,046,230 (GRCm39)		probably benign	Het
Fam243	A	G	16: 92,117,616 (GRCm39)	I224T	probably damaging	Het
Fmnl1	A	G	11: 103,087,592 (GRCm39)		probably benign	Het
Gbp9	T	C	5: 105,231,624 (GRCm39)	N321D	probably damaging	Het
Gm5884	A	G	6: 128,622,738 (GRCm39)		noncoding transcript	Het
Gp2	A	T	7: 119,051,452 (GRCm39)	N254K	probably benign	Het
Hgh1	T	A	15: 76,253,754 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,284,030 (GRCm39)	N543S	probably damaging	Het
Ints7	T	C	1: 191,351,853 (GRCm39)	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,320,879 (GRCm39)		probably benign	Het
Lrrtm4	A	T	6: 79,998,947 (GRCm39)	N120Y	probably damaging	Het
Map3k5	T	C	10: 19,900,782 (GRCm39)	S319P	probably damaging	Het
Mc4r	A	G	18: 66,992,318 (GRCm39)	L265S	probably damaging	Het
Morc1	T	C	16: 48,378,869 (GRCm39)		probably benign	Het
Mre11a	T	A	9: 14,701,966 (GRCm39)		probably null	Het
Msh4	T	C	3: 153,607,037 (GRCm39)		probably benign	Het
Mterf4	A	G	1: 93,232,455 (GRCm39)	L132P	probably damaging	Het
Myo15a	A	T	11: 60,368,005 (GRCm39)	E255V	probably benign	Het
Myot	T	C	18: 44,479,127 (GRCm39)	V288A	probably damaging	Het
Nipa2	T	C	7: 55,592,766 (GRCm39)	Y53C	probably damaging	Het
Npas1	T	A	7: 16,190,041 (GRCm39)	I502F	probably damaging	Het
Or12j5	C	T	7: 140,083,533 (GRCm39)	V280M	probably damaging	Het
Or2y1d	T	A	11: 49,321,749 (GRCm39)	W149R	probably damaging	Het
Osbp2	A	G	11: 3,664,637 (GRCm39)	V565A	probably benign	Het
Otof	A	G	5: 30,531,426 (GRCm39)	S1666P	probably benign	Het
Per3	A	C	4: 151,108,927 (GRCm39)	S476A	probably damaging	Het
Pja2	T	C	17: 64,604,789 (GRCm39)	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,082,290 (GRCm39)	F512S	probably damaging	Het
Plcd4	T	A	1: 74,596,967 (GRCm39)	L403Q	probably damaging	Het
Psg26	T	C	7: 18,209,080 (GRCm39)	T443A	probably benign	Het
Snapc4	T	A	2: 26,259,384 (GRCm39)	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755 (GRCm39)	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406 (GRCm39)	D268G	probably benign	Het
Tfap2d	A	G	1: 19,213,151 (GRCm39)	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,176 (GRCm39)	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,180,945 (GRCm39)	E70K	probably benign	Het
Wdr18	T	A	10: 79,796,898 (GRCm39)	N91K	possibly damaging	Het
Zbtb7b	T	C	3: 89,287,081 (GRCm39)	T463A	probably damaging	Het

Other mutations in Aox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Aox3	APN	1	58,208,953 (GRCm39)	missense	probably damaging	1.00
IGL01747:Aox3	APN	1	58,198,817 (GRCm39)	missense	probably damaging	0.97
IGL01883:Aox3	APN	1	58,177,442 (GRCm39)	missense	probably damaging	1.00
IGL01911:Aox3	APN	1	58,191,719 (GRCm39)	missense	probably benign	0.04
IGL02017:Aox3	APN	1	58,160,151 (GRCm39)	missense	probably damaging	1.00
IGL02120:Aox3	APN	1	58,166,809 (GRCm39)	missense	probably benign	0.00
IGL02466:Aox3	APN	1	58,197,431 (GRCm39)	missense	probably benign	0.28
IGL02545:Aox3	APN	1	58,222,645 (GRCm39)	missense	probably damaging	1.00
IGL02572:Aox3	APN	1	58,197,526 (GRCm39)	missense	probably damaging	1.00
IGL02746:Aox3	APN	1	58,222,701 (GRCm39)	missense	possibly damaging	0.83
IGL02808:Aox3	APN	1	58,181,859 (GRCm39)	missense	probably damaging	0.99
IGL02982:Aox3	APN	1	58,166,846 (GRCm39)	missense	probably benign	0.00
IGL03056:Aox3	APN	1	58,198,180 (GRCm39)	critical splice donor site	probably null
IGL03182:Aox3	APN	1	58,205,046 (GRCm39)	missense	probably benign	0.02
IGL03234:Aox3	APN	1	58,191,845 (GRCm39)	missense	probably benign
IGL03374:Aox3	APN	1	58,211,007 (GRCm39)	missense	probably damaging	1.00
amber	UTSW	1	58,211,050 (GRCm39)	nonsense	probably null
R0071:Aox3	UTSW	1	58,211,050 (GRCm39)	nonsense	probably null
R0071:Aox3	UTSW	1	58,211,050 (GRCm39)	nonsense	probably null
R0135:Aox3	UTSW	1	58,164,247 (GRCm39)	splice site	probably benign
R0332:Aox3	UTSW	1	58,181,910 (GRCm39)	missense	probably benign	0.00
R0626:Aox3	UTSW	1	58,211,458 (GRCm39)	missense	possibly damaging	0.94
R1325:Aox3	UTSW	1	58,215,726 (GRCm39)	nonsense	probably null
R1435:Aox3	UTSW	1	58,202,605 (GRCm39)	critical splice donor site	probably null
R1438:Aox3	UTSW	1	58,192,337 (GRCm39)	missense	probably benign
R1567:Aox3	UTSW	1	58,233,852 (GRCm39)	missense	probably damaging	0.96
R1575:Aox3	UTSW	1	58,191,713 (GRCm39)	missense	probably benign	0.04
R1759:Aox3	UTSW	1	58,209,805 (GRCm39)	splice site	probably null
R1785:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R1786:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R1921:Aox3	UTSW	1	58,219,810 (GRCm39)	missense	probably damaging	1.00
R1984:Aox3	UTSW	1	58,192,220 (GRCm39)	missense	possibly damaging	0.88
R2012:Aox3	UTSW	1	58,177,391 (GRCm39)	missense	probably benign	0.02
R2080:Aox3	UTSW	1	58,225,439 (GRCm39)	missense	probably benign	0.06
R2121:Aox3	UTSW	1	58,191,708 (GRCm39)	splice site	probably benign
R2126:Aox3	UTSW	1	58,197,375 (GRCm39)	missense	probably benign	0.25
R2130:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R2131:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R2132:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R2133:Aox3	UTSW	1	58,209,002 (GRCm39)	missense	probably damaging	1.00
R2385:Aox3	UTSW	1	58,177,448 (GRCm39)	missense	probably damaging	1.00
R2495:Aox3	UTSW	1	58,227,567 (GRCm39)	missense	probably damaging	0.99
R4200:Aox3	UTSW	1	58,227,537 (GRCm39)	missense	probably damaging	1.00
R4231:Aox3	UTSW	1	58,154,044 (GRCm39)	missense	probably benign	0.12
R4591:Aox3	UTSW	1	58,191,815 (GRCm39)	missense	probably damaging	0.99
R4627:Aox3	UTSW	1	58,164,194 (GRCm39)	missense	probably damaging	0.98
R4831:Aox3	UTSW	1	58,191,725 (GRCm39)	missense	probably damaging	0.97
R4864:Aox3	UTSW	1	58,215,646 (GRCm39)	missense	probably damaging	1.00
R4976:Aox3	UTSW	1	58,227,683 (GRCm39)	critical splice donor site	probably null
R5007:Aox3	UTSW	1	58,202,583 (GRCm39)	missense	probably benign
R5119:Aox3	UTSW	1	58,227,683 (GRCm39)	critical splice donor site	probably null
R5175:Aox3	UTSW	1	58,211,487 (GRCm39)	missense	probably benign	0.01
R5360:Aox3	UTSW	1	58,185,667 (GRCm39)	missense	probably damaging	1.00
R5784:Aox3	UTSW	1	58,192,658 (GRCm39)	missense	probably benign	0.00
R6050:Aox3	UTSW	1	58,219,814 (GRCm39)	missense	possibly damaging	0.93
R6056:Aox3	UTSW	1	58,209,018 (GRCm39)	missense	probably damaging	1.00
R6162:Aox3	UTSW	1	58,198,890 (GRCm39)	missense	possibly damaging	0.75
R6181:Aox3	UTSW	1	58,198,105 (GRCm39)	missense	probably benign	0.03
R6374:Aox3	UTSW	1	58,211,320 (GRCm39)	missense	probably benign	0.11
R6662:Aox3	UTSW	1	58,157,774 (GRCm39)	missense	probably damaging	1.00
R6809:Aox3	UTSW	1	58,157,840 (GRCm39)	missense	probably damaging	0.99
R6810:Aox3	UTSW	1	58,180,590 (GRCm39)	missense	probably benign	0.00
R6821:Aox3	UTSW	1	58,189,547 (GRCm39)	missense	probably benign	0.04
R7039:Aox3	UTSW	1	58,215,714 (GRCm39)	missense	probably damaging	1.00
R7116:Aox3	UTSW	1	58,192,689 (GRCm39)	missense	probably benign	0.01
R7146:Aox3	UTSW	1	58,197,688 (GRCm39)	splice site	probably null
R7163:Aox3	UTSW	1	58,158,671 (GRCm39)	missense	probably damaging	0.99
R7243:Aox3	UTSW	1	58,177,466 (GRCm39)	missense	unknown
R7319:Aox3	UTSW	1	58,191,761 (GRCm39)	missense	probably benign	0.04
R7423:Aox3	UTSW	1	58,160,228 (GRCm39)	missense	possibly damaging	0.80
R7664:Aox3	UTSW	1	58,158,698 (GRCm39)	missense	probably damaging	1.00
R7709:Aox3	UTSW	1	58,219,810 (GRCm39)	missense	probably damaging	1.00
R7745:Aox3	UTSW	1	58,215,676 (GRCm39)	missense	possibly damaging	0.75
R7751:Aox3	UTSW	1	58,218,494 (GRCm39)	missense	probably benign	0.11
R7912:Aox3	UTSW	1	58,181,855 (GRCm39)	missense	probably benign	0.05
R7940:Aox3	UTSW	1	58,227,596 (GRCm39)	missense	probably damaging	1.00
R8143:Aox3	UTSW	1	58,198,074 (GRCm39)	missense	probably benign	0.05
R8178:Aox3	UTSW	1	58,189,481 (GRCm39)	missense	possibly damaging	0.64
R8719:Aox3	UTSW	1	58,158,696 (GRCm39)	missense	probably damaging	1.00
R8861:Aox3	UTSW	1	58,189,460 (GRCm39)	missense	probably benign
R9379:Aox3	UTSW	1	58,208,959 (GRCm39)	missense	possibly damaging	0.77
R9459:Aox3	UTSW	1	58,189,468 (GRCm39)	missense	probably benign	0.10
R9472:Aox3	UTSW	1	58,215,669 (GRCm39)	missense	possibly damaging	0.47
R9479:Aox3	UTSW	1	58,177,568 (GRCm39)	missense	probably benign	0.23
R9521:Aox3	UTSW	1	58,164,222 (GRCm39)	missense	probably benign	0.10
R9750:Aox3	UTSW	1	58,215,648 (GRCm39)	nonsense	probably null

Posted On

2015-12-18