Mutagenetix > Incidental Mutations

Incidental Mutation 'R7163:Aox3'

557704

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

AOH1, 1200011D03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58113130-58200698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58119512 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 81 (I81F)

Ref Sequence

ENSEMBL: ENSMUSP00000049391 (fasta)

Gene Model

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

PDB Structure

Crystal structure of the mouse liver Aldehyde Oxidase 3 (mAOX3) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040999
AA Change: I81F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: I81F

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

probably damaging
Transcript: ENSMUST00000162011
AA Change: I81F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
AA Change: I81F

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,408,072	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,414,624	G19D	probably damaging	Het
Abca3	A	T	17: 24,364,942	M102L	probably benign	Het
Adam19	A	T	11: 46,131,717	Y499F	probably benign	Het
Adck2	T	C	6: 39,583,863	V444A	probably damaging	Het
Adck5	T	C	15: 76,593,816	V214A	probably damaging	Het
Agrn	G	A	4: 156,178,509	T437M	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Blmh	A	G	11: 76,946,161	Y23C	unknown	Het
Cacnb1	A	G	11: 98,012,900	V109A	probably benign	Het
Ccdc27	C	T	4: 154,032,825	R555H	not run	Het
Cep170	A	C	1: 176,774,465	S358R	probably damaging	Het
Cfap46	A	T	7: 139,618,078		probably null	Het
Dclk1	G	T	3: 55,256,128	E214*	probably null	Het
Dhrs1	A	G	14: 55,739,381	L282P	probably benign	Het
Dlgap5	A	G	14: 47,399,638	L461P	probably damaging	Het
Elp2	G	T	18: 24,614,446	C185F	probably benign	Het
Fbxw7	T	C	3: 84,925,585		probably benign	Het
Fga	T	C	3: 83,026,264	V17A	probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm43302	T	A	5: 105,293,627		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hcn1	A	T	13: 117,925,547	I450L	unknown	Het
Hydin	T	A	8: 110,603,336	C4901S	probably benign	Het
Ino80	A	T	2: 119,392,875	I1186N	probably damaging	Het
Ints7	T	A	1: 191,617,837	I781N	possibly damaging	Het
Irf2	T	A	8: 46,837,677	V178E	possibly damaging	Het
Iws1	T	A	18: 32,093,224	S722T	possibly damaging	Het
Jak1	G	A	4: 101,175,188	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,632,077	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940	S169P	probably damaging	Het
Kif15	A	G	9: 123,017,657	N1348S	probably damaging	Het
Kpna7	G	A	5: 145,002,396	P187L	unknown	Het
Krt35	A	T	11: 100,096,158	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,256,737	V131F	probably benign	Het
Mcf2l	G	A	8: 12,915,439	R4H	probably benign	Het
Megf6	C	T	4: 154,267,441	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,926,576	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,981,490	V121A	probably benign	Het
Myl2	T	A	5: 122,101,822	I26N	probably damaging	Het
Myo15	A	G	11: 60,498,369	M862V		Het
Nckap5l	T	C	15: 99,433,473	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,744,710	E90A	probably benign	Het
Nup210	G	T	6: 91,073,331	N385K	probably damaging	Het
Olfr1029	T	A	2: 85,975,588	L115Q	probably damaging	Het
Olfr311	T	C	11: 58,841,186	V24A	probably benign	Het
Olfr330	C	A	11: 58,529,168	E273*	probably null	Het
Olfr897-ps1	T	C	9: 38,309,049	F85L	probably damaging	Het
Olfr90	T	C	17: 37,086,045	N40S	probably damaging	Het
Park2	G	A	17: 12,061,547	C430Y	probably damaging	Het
Pcmt1	A	T	10: 7,638,158	M249K	probably benign	Het
Pde3a	T	C	6: 141,487,544	L767P	probably damaging	Het
Pde8a	T	C	7: 81,306,708	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,665	K690*	probably null	Het
Plxna4	T	C	6: 32,496,756	H442R	probably benign	Het
Polr1b	A	G	2: 129,126,011	D1108G	probably benign	Het
Sec23ip	T	C	7: 128,762,533		probably null	Het
Slc24a3	A	G	2: 145,244,991	D57G	probably benign	Het
Sprtn	T	G	8: 124,898,305	F50V	probably damaging	Het
Srr	A	G	11: 74,913,002	F43S	probably damaging	Het
Szt2	A	G	4: 118,405,530	F17L	possibly damaging	Het
Taar1	G	T	10: 23,921,020	M205I	probably benign	Het
Tas2r143	A	G	6: 42,400,268	I11V	probably benign	Het
Tlx1	T	C	19: 45,151,216	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,938,344		probably null	Het
Vhl	A	G	6: 113,629,490	D156G	possibly damaging	Het
Washc4	T	A	10: 83,591,033	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,200,732	V101A	probably benign	Het
Zfp82	T	C	7: 30,062,244	R71G	probably benign	Het

Other mutations in Aox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Aox3	APN	1	58169794	missense	probably damaging	1.00
IGL01747:Aox3	APN	1	58159658	missense	probably damaging	0.97
IGL01883:Aox3	APN	1	58138283	missense	probably damaging	1.00
IGL01911:Aox3	APN	1	58152560	missense	probably benign	0.04
IGL02017:Aox3	APN	1	58120992	missense	probably damaging	1.00
IGL02120:Aox3	APN	1	58127650	missense	probably benign	0.00
IGL02466:Aox3	APN	1	58158272	missense	probably benign	0.28
IGL02545:Aox3	APN	1	58183486	missense	probably damaging	1.00
IGL02572:Aox3	APN	1	58158367	missense	probably damaging	1.00
IGL02746:Aox3	APN	1	58183542	missense	possibly damaging	0.83
IGL02808:Aox3	APN	1	58142700	missense	probably damaging	0.99
IGL02812:Aox3	APN	1	58165896	missense	probably benign	0.00
IGL02982:Aox3	APN	1	58127687	missense	probably benign	0.00
IGL03056:Aox3	APN	1	58159021	critical splice donor site	probably null
IGL03182:Aox3	APN	1	58165887	missense	probably benign	0.02
IGL03234:Aox3	APN	1	58152686	missense	probably benign
IGL03374:Aox3	APN	1	58171848	missense	probably damaging	1.00
amber	UTSW	1	58171891	nonsense	probably null
R0071:Aox3	UTSW	1	58171891	nonsense	probably null
R0071:Aox3	UTSW	1	58171891	nonsense	probably null
R0135:Aox3	UTSW	1	58125088	splice site	probably benign
R0332:Aox3	UTSW	1	58142751	missense	probably benign	0.00
R0626:Aox3	UTSW	1	58172299	missense	possibly damaging	0.94
R1325:Aox3	UTSW	1	58176567	nonsense	probably null
R1435:Aox3	UTSW	1	58163446	critical splice donor site	probably null
R1438:Aox3	UTSW	1	58153178	missense	probably benign
R1567:Aox3	UTSW	1	58194693	missense	probably damaging	0.96
R1575:Aox3	UTSW	1	58152554	missense	probably benign	0.04
R1759:Aox3	UTSW	1	58170646	splice site	probably null
R1785:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R1786:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R1921:Aox3	UTSW	1	58180651	missense	probably damaging	1.00
R1984:Aox3	UTSW	1	58153061	missense	possibly damaging	0.88
R2012:Aox3	UTSW	1	58138232	missense	probably benign	0.02
R2080:Aox3	UTSW	1	58186280	missense	probably benign	0.06
R2121:Aox3	UTSW	1	58152549	splice site	probably benign
R2126:Aox3	UTSW	1	58158216	missense	probably benign	0.25
R2130:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R2131:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R2132:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R2133:Aox3	UTSW	1	58169843	missense	probably damaging	1.00
R2385:Aox3	UTSW	1	58138289	missense	probably damaging	1.00
R2495:Aox3	UTSW	1	58188408	missense	probably damaging	0.99
R4200:Aox3	UTSW	1	58188378	missense	probably damaging	1.00
R4231:Aox3	UTSW	1	58114885	missense	probably benign	0.12
R4591:Aox3	UTSW	1	58152656	missense	probably damaging	0.99
R4627:Aox3	UTSW	1	58125035	missense	probably damaging	0.98
R4831:Aox3	UTSW	1	58152566	missense	probably damaging	0.97
R4864:Aox3	UTSW	1	58176487	missense	probably damaging	1.00
R4976:Aox3	UTSW	1	58188524	critical splice donor site	probably null
R5007:Aox3	UTSW	1	58163424	missense	probably benign
R5119:Aox3	UTSW	1	58188524	critical splice donor site	probably null
R5175:Aox3	UTSW	1	58172328	missense	probably benign	0.01
R5360:Aox3	UTSW	1	58146508	missense	probably damaging	1.00
R5784:Aox3	UTSW	1	58153499	missense	probably benign	0.00
R6050:Aox3	UTSW	1	58180655	missense	possibly damaging	0.93
R6056:Aox3	UTSW	1	58169859	missense	probably damaging	1.00
R6162:Aox3	UTSW	1	58159731	missense	possibly damaging	0.75
R6181:Aox3	UTSW	1	58158946	missense	probably benign	0.03
R6374:Aox3	UTSW	1	58172161	missense	probably benign	0.11
R6662:Aox3	UTSW	1	58118615	missense	probably damaging	1.00
R6809:Aox3	UTSW	1	58118681	missense	probably damaging	0.99
R6810:Aox3	UTSW	1	58141431	missense	probably benign	0.00
R6821:Aox3	UTSW	1	58150388	missense	probably benign	0.04
R7039:Aox3	UTSW	1	58176555	missense	probably damaging	1.00
R7116:Aox3	UTSW	1	58153530	missense	probably benign	0.01
R7146:Aox3	UTSW	1	58158529	splice site	probably null
R7243:Aox3	UTSW	1	58138307	missense	unknown
R7319:Aox3	UTSW	1	58152602	missense	probably benign	0.04
R7423:Aox3	UTSW	1	58121069	missense	possibly damaging	0.80
R7664:Aox3	UTSW	1	58119539	missense	probably damaging	1.00
R7709:Aox3	UTSW	1	58180651	missense	probably damaging	1.00
R7745:Aox3	UTSW	1	58176517	missense	possibly damaging	0.75
R7751:Aox3	UTSW	1	58179335	missense	probably benign	0.11
R7912:Aox3	UTSW	1	58142696	missense	probably benign	0.05
R7940:Aox3	UTSW	1	58188437	missense	probably damaging	1.00
R8143:Aox3	UTSW	1	58158915	missense	probably benign	0.05
R8178:Aox3	UTSW	1	58150322	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TTTGAGGAGGCAATGACTTTCTTAG -3'
(R):5'- TGGGGCTCTCAAGTCAAAATC -3'

Sequencing Primer
(F):5'- GGAGGCAATGACTTTCTTAGTTAAC -3'
(R):5'- CATATAGTTCACCAGCAGCTTAGGG -3'

Posted On

2019-06-26