Mutagenetix > Incidental Mutation

Incidental Mutation 'R6050:Aox3'

483484

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

MMRRC Submission

044218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58219814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1138 (F1138S)

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

possibly damaging
Transcript: ENSMUST00000040999
AA Change: F1138S

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: F1138S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ahdc1	A	G	4: 132,793,202 (GRCm39)	D1481G	possibly damaging	Het
Ak9	A	G	10: 41,265,108 (GRCm39)	E955G	possibly damaging	Het
Bbs2	T	A	8: 94,819,160 (GRCm39)	N70Y	probably damaging	Het
BC048679	T	C	7: 81,145,339 (GRCm39)	I70V	possibly damaging	Het
Catspere2	G	A	1: 177,931,490 (GRCm39)	A470T	unknown	Het
Ccdc141	G	T	2: 76,842,075 (GRCm39)	A1452E	probably benign	Het
Celsr1	T	C	15: 85,814,812 (GRCm39)	D1883G	probably benign	Het
Clhc1	A	G	11: 29,511,397 (GRCm39)	I280M	possibly damaging	Het
Cmtr1	G	T	17: 29,901,108 (GRCm39)	K678N	probably damaging	Het
Daam2	T	C	17: 49,793,530 (GRCm39)	D329G	possibly damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Fcf1	G	A	12: 85,029,017 (GRCm39)	C154Y	probably damaging	Het
Frem2	T	C	3: 53,560,433 (GRCm39)	N1358S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtf3c3	T	C	1: 54,445,229 (GRCm39)	I608M	probably benign	Het
Gzf1	G	A	2: 148,526,158 (GRCm39)	D210N	possibly damaging	Het
Ift140	C	T	17: 25,309,979 (GRCm39)	R1129C	probably damaging	Het
Lias	A	G	5: 65,551,315 (GRCm39)	I83V	possibly damaging	Het
Mlh3	T	C	12: 85,287,620 (GRCm39)	T1342A	possibly damaging	Het
Mn1	A	G	5: 111,567,263 (GRCm39)	Y411C	probably damaging	Het
Mrps21	C	T	3: 95,770,200 (GRCm39)	R43H	probably benign	Het
Ncam2	C	T	16: 81,240,054 (GRCm39)	Q172*	probably null	Het
Notch3	T	C	17: 32,362,501 (GRCm39)	T1375A	probably benign	Het
Oga	A	C	19: 45,753,919 (GRCm39)	S652A	possibly damaging	Het
Ovol3	T	A	7: 29,933,819 (GRCm39)	Y101F	probably benign	Het
Pcbp4	T	C	9: 106,339,422 (GRCm39)	V45A	probably benign	Het
Plec	T	C	15: 76,072,458 (GRCm39)	E709G	probably damaging	Het
Prcc	G	A	3: 87,777,191 (GRCm39)	T261I	probably damaging	Het
Psg25	A	G	7: 18,260,403 (GRCm39)	V165A	probably benign	Het
Rfk	C	T	19: 17,376,896 (GRCm39)	P133S	probably benign	Het
Scaf8	C	T	17: 3,218,383 (GRCm39)	T251M	unknown	Het
Sec14l2	T	C	11: 4,061,477 (GRCm39)	D67G	probably benign	Het
Smtnl1	A	G	2: 84,641,797 (GRCm39)	I441T	probably damaging	Het
Tbce	C	T	13: 14,173,019 (GRCm39)	V471I	possibly damaging	Het
Tnip1	G	A	11: 54,808,703 (GRCm39)	R495C	probably damaging	Het
Trbv19	A	G	6: 41,155,944 (GRCm39)	K105R	probably benign	Het
Ttc5	T	A	14: 51,010,744 (GRCm39)	N229I	probably damaging	Het
Ush2a	T	C	1: 188,689,521 (GRCm39)	F5028L	probably benign	Het
Vmn2r24	T	C	6: 123,792,691 (GRCm39)	S673P	probably damaging	Het
Zfp780b	A	T	7: 27,663,727 (GRCm39)	I276N	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTACTCACCTGACAGTATGCTC -3'
(R):5'- TGCATTTAGGAAACTGTGGGAC -3'

Sequencing Primer
(F):5'- GCTCCATATTCATCTTGCAAAGAC -3'
(R):5'- TAGGAAACTGTGGGACTCATCTC -3'

Posted On

2017-07-14