Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Aox3'

551747

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58192689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 554 (E554D)

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: E554D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: E554D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,251,751 (GRCm39)	S109P	probably damaging	Het
Afg3l1	T	G	8: 124,216,601 (GRCm39)	L280R	probably damaging	Het
Akap13	T	A	7: 75,369,943 (GRCm39)	S129T	probably benign	Het
Ankrd11	A	G	8: 123,622,869 (GRCm39)	S328P	probably damaging	Het
Bcl11a	T	C	11: 24,113,839 (GRCm39)	V394A	probably damaging	Het
Cass4	A	G	2: 172,269,889 (GRCm39)	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,454,051 (GRCm39)	A1738V	probably benign	Het
Cfap74	T	C	4: 155,539,518 (GRCm39)	F948L	unknown	Het
Chgb	A	T	2: 132,623,237 (GRCm39)		probably benign	Het
Coro1c	C	T	5: 113,990,267 (GRCm39)	W138*	probably null	Het
Dgkb	A	G	12: 38,031,989 (GRCm39)	Q17R	probably benign	Het
Esco2	A	G	14: 66,064,006 (GRCm39)	Y393H	probably damaging	Het
Eya3	T	A	4: 132,422,110 (GRCm39)	D228E	probably benign	Het
Fat2	T	C	11: 55,173,162 (GRCm39)	D2517G	probably damaging	Het
Fry	T	A	5: 150,319,334 (GRCm39)		probably null	Het
Gal3st2b	A	T	1: 93,868,498 (GRCm39)	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,654,989 (GRCm39)	A192V	probably benign	Het
Glg1	T	A	8: 111,905,589 (GRCm39)	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,502,601 (GRCm39)	Y188*	probably null	Het
Hira	T	C	16: 18,730,864 (GRCm39)	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,257,814 (GRCm39)	D76N	probably benign	Het
Irf6	T	C	1: 192,849,905 (GRCm39)	F276L	probably damaging	Het
Itpr1	T	C	6: 108,458,229 (GRCm39)	C2000R	probably damaging	Het
Jakmip3	T	C	7: 138,621,979 (GRCm39)	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,707,614 (GRCm39)	V132A	probably benign	Het
Kcnj1	A	G	9: 32,308,277 (GRCm39)	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,605,635 (GRCm39)	N470I	probably benign	Het
Lamb2	T	C	9: 108,364,522 (GRCm39)	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,527,911 (GRCm39)	D232G	probably benign	Het
Lpxn	T	A	19: 12,788,622 (GRCm39)	N70K	probably benign	Het
Ltbp4	T	A	7: 27,004,852 (GRCm39)	H1657L	probably damaging	Het
Luzp2	C	A	7: 54,915,078 (GRCm39)	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,835,785 (GRCm39)	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,568,517 (GRCm39)	T396I	probably benign	Het
Muc5b	T	C	7: 141,417,487 (GRCm39)	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,349,269 (GRCm39)	M626K	probably benign	Het
Nlrp14	A	G	7: 106,782,255 (GRCm39)	D484G	possibly damaging	Het
Npc1	T	C	18: 12,344,601 (GRCm39)	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,437,388 (GRCm39)	I180T	probably damaging	Het
Or11g25	A	T	14: 50,723,025 (GRCm39)	I37F	probably benign	Het
Or51a8	T	A	7: 102,549,842 (GRCm39)	N89K	probably benign	Het
Osbpl6	A	T	2: 76,426,225 (GRCm39)	I935F	probably benign	Het
Otog	T	C	7: 45,947,689 (GRCm39)	F96L	probably damaging	Het
Pde1b	T	C	15: 103,436,745 (GRCm39)	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,288,125 (GRCm39)	E1092K	probably damaging	Het
Pfkl	T	C	10: 77,837,249 (GRCm39)	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,421,372 (GRCm39)	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812 (GRCm39)	C126*	probably null	Het
Pphln1	T	A	15: 93,353,406 (GRCm39)	S229T	probably benign	Het
Pramel5	C	T	4: 144,000,451 (GRCm39)	D42N	possibly damaging	Het
Psd3	A	G	8: 68,166,390 (GRCm39)	V915A	probably benign	Het
Ptdss1	T	A	13: 67,093,391 (GRCm39)	I77N	probably benign	Het
Rsbn1	T	A	3: 103,821,892 (GRCm39)	C3*	probably null	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sv2c	A	T	13: 96,113,152 (GRCm39)	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,220,898 (GRCm39)	T322A	probably benign	Het
Vmn2r60	T	A	7: 41,786,487 (GRCm39)	M430K	probably benign	Het
Wipf3	T	A	6: 54,458,904 (GRCm39)		probably null	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
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
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'- AAACCCAAAGCTCTCAAGTTTG -3'
(R):5'- ATTGGGTGCATGATGTGAAATCC -3'

Sequencing Primer
(F):5'- GTTTGCTCAAACTTTCCCAAAGC -3'
(R):5'- GACAGATGCAGCCTCTTT -3'

Posted On

2019-05-15