Mutagenetix > Incidental Mutation

Incidental Mutation 'R9521:Aox3'

718863

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58164222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 164 (A164E)

Ref Sequence

ENSEMBL: ENSMUSP00000049391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040999] [ENSMUST00000162011]

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: A164E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: A164E

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

possibly damaging
Transcript: ENSMUST00000162011
AA Change: A164E

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
AA Change: A164E

Domain	Start	End	E-Value	Type
Pfam:Fer2	12	82	3.6e-8	PFAM
Pfam:Fer2_2	91	166	2.5e-29	PFAM
transmembrane domain	242	264	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,608,778 (GRCm39)		probably null	Het
A030005K14Rik	C	A	1: 83,036,980 (GRCm39)	G17V	unknown	Het
Afap1l1	C	T	18: 61,879,863 (GRCm39)	A336T	probably benign	Het
Akap8	C	T	17: 32,530,036 (GRCm39)	R395H	possibly damaging	Het
Ankrd26	G	A	6: 118,517,420 (GRCm39)	A467V	possibly damaging	Het
Ano9	A	T	7: 140,682,227 (GRCm39)	S683T	probably benign	Het
Apc	T	C	18: 34,445,738 (GRCm39)	I878T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atg9b	T	C	5: 24,593,107 (GRCm39)	N432S	probably benign	Het
Atp1b3	A	G	9: 96,227,911 (GRCm39)	F49L	probably damaging	Het
Cacnb2	A	T	2: 14,609,138 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,916,283 (GRCm39)	L828Q	probably null	Het
Chd3	C	T	11: 69,249,133 (GRCm39)	R748Q	probably benign	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cldn18	T	A	9: 99,581,028 (GRCm39)		probably null	Het
Cmklr1	C	T	5: 113,752,480 (GRCm39)	V174I	probably benign	Het
Cyp2d22	A	T	15: 82,256,688 (GRCm39)	V362D	probably damaging	Het
Dock10	T	C	1: 80,501,763 (GRCm39)	K1810R	probably damaging	Het
Duox1	T	A	2: 122,159,216 (GRCm39)	V661E	possibly damaging	Het
Ercc2	G	A	7: 19,125,899 (GRCm39)	R518Q	probably damaging	Het
Fam186a	A	G	15: 99,841,471 (GRCm39)	L1591P	probably damaging	Het
Fam186b	G	T	15: 99,178,419 (GRCm39)	D302E	probably benign	Het
Fap	T	C	2: 62,372,500 (GRCm39)	D326G	probably benign	Het
Gm42669	T	A	5: 107,655,892 (GRCm39)	D135E		Het
Keap1	A	T	9: 21,143,136 (GRCm39)	V463E	probably damaging	Het
Mga	T	C	2: 119,794,979 (GRCm39)	S2888P	probably damaging	Het
Mgam	A	G	6: 40,722,118 (GRCm39)	D403G	probably damaging	Het
Mios	C	T	6: 8,233,171 (GRCm39)	T773I	probably benign	Het
Nav3	T	C	10: 109,835,845 (GRCm39)	D79G	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or8k35	C	A	2: 86,424,771 (GRCm39)	V134F		Het
Orc6	T	C	8: 86,026,615 (GRCm39)	V20A	possibly damaging	Het
Peli2	A	G	14: 48,490,052 (GRCm39)	K175E	probably benign	Het
Plec	C	G	15: 76,062,924 (GRCm39)	R2382P	possibly damaging	Het
Ppp1r12b	T	A	1: 134,705,063 (GRCm39)	D875V	probably damaging	Het
Pramel6	T	A	2: 87,340,629 (GRCm39)	C320*	probably null	Het
Qrich2	A	T	11: 116,339,208 (GRCm39)	M26K	probably damaging	Het
Rapgef1	A	G	2: 29,624,291 (GRCm39)	I1006V	probably benign	Het
Rasgrp3	T	A	17: 75,821,158 (GRCm39)	L455Q	probably null	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Senp6	C	T	9: 79,974,687 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,992,144 (GRCm39)	Y700C	probably damaging	Het
Siglec1	A	G	2: 130,915,246 (GRCm39)		probably null	Het
Slc12a7	G	A	13: 73,947,087 (GRCm39)	V592I	probably benign	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Tdp1	T	C	12: 99,877,906 (GRCm39)	V396A	probably damaging	Het
Ticam1	T	C	17: 56,578,388 (GRCm39)	T236A	probably benign	Het
Tob1	AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC	AGCAGCAGCAGCAGCAGCAGCC	11: 94,105,205 (GRCm39)		probably benign	Het
Ttc21a	C	A	9: 119,787,181 (GRCm39)	D729E	probably damaging	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Unc45b	A	G	11: 82,808,586 (GRCm39)	D224G	probably benign	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r61	A	G	7: 41,916,626 (GRCm39)	E413G	probably damaging	Het
Zfp423	A	T	8: 88,509,033 (GRCm39)	L437Q	probably damaging	Het
Zfp810	A	G	9: 22,190,227 (GRCm39)	V227A	possibly 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
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
R9750:Aox3	UTSW	1	58,215,648 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCACAAATCGGTCCTGAGTAG -3'
(R):5'- TACACAGCTATGCTTACAGAAATGG -3'

Sequencing Primer
(F):5'- ACAAATCGGTCCTGAGTAGCTTCTG -3'
(R):5'- CTATGCTTACAGAAATGGGCAAAAAC -3'

Posted On

2022-07-18