Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Aox3'

412285

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 #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58205046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 754 (V754I)

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: V754I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: V754I

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,619,580 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Dsel	T	C	1: 111,787,868 (GRCm39)	E889G	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pfkfb3	A	T	2: 11,506,474 (GRCm39)	I13N	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Serping1	T	C	2: 84,596,162 (GRCm39)	D424G	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tbc1d13	G	A	2: 30,037,379 (GRCm39)	A254T	probably damaging	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	probably benign	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
IGL02812:Aox3	APN	1	58,205,055 (GRCm39)	missense	probably benign	0.00
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
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

2016-08-02