Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Aox3'

299035

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 #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58197526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 624 (I624T)

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 damaging
Transcript: ENSMUST00000040999
AA Change: I624T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: I624T

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: ENSMUST00000158650

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	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
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
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

2015-04-16