Mutagenetix > Incidental Mutations

Incidental Mutation 'R6810:Aox3'

533734

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 #

R6810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58113130-58200698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58141431 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 250 (N250K)

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 benign
Transcript: ENSMUST00000040999
AA Change: N250K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: N250K

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 benign
Transcript: ENSMUST00000162011

SMART Domains

Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	C	T	10: 22,066,717	G455R	probably damaging	Het
Adgrg5	A	T	8: 94,933,942	T70S	probably damaging	Het
Adora1	T	C	1: 134,234,039	Y106C	probably damaging	Het
Ap2b1	A	T	11: 83,335,491	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,612,220	S2015N	possibly damaging	Het
C7	A	G	15: 5,007,654	F581L	probably damaging	Het
Cd27	A	T	6: 125,233,664	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,699,587	V274A	probably benign	Het
Cenpe	A	G	3: 135,243,822	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523	L1353P	probably damaging	Het
Dcc	C	T	18: 71,370,693	V945M	probably damaging	Het
Dio1	A	G	4: 107,297,725	V118A	probably damaging	Het
Dst	C	T	1: 34,212,298	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,814,329	M165K	probably benign	Het
Eif5b	A	G	1: 38,046,660	I929V	probably benign	Het
F5	T	A	1: 164,186,902	S581T	probably damaging	Het
Fanca	A	C	8: 123,286,477	I761S	probably damaging	Het
Fat2	T	C	11: 55,282,241	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,650,505	L281P	probably damaging	Het
Gm19410	C	A	8: 35,772,579	A143E	probably damaging	Het
Gm5431	T	C	11: 48,888,976	D651G	probably damaging	Het
Hook3	A	C	8: 26,032,422		probably null	Het
Ivd	G	T	2: 118,869,761	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,388,356	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,241,558	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,619,477	I45F	probably damaging	Het
Nell2	T	C	15: 95,241,587	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,453,575	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,066,755	F552I	probably damaging	Het
Olfr1052	G	A	2: 86,297,923	A36T	probably benign	Het
Olfr578	A	C	7: 102,984,835	S110A	probably damaging	Het
Pcdhga12	T	C	18: 37,767,179	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,715,873	Y311F	probably benign	Het
Phldb2	A	G	16: 45,748,725		probably null	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Plxna4	A	G	6: 32,310,522	V480A	probably benign	Het
Psrc1	A	T	3: 108,385,348	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,885,532	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,152,732		probably null	Het
Skint6	T	C	4: 112,948,380		probably null	Het
Slc24a1	A	G	9: 64,948,323	V434A	probably benign	Het
Snd1	T	A	6: 28,668,610	V432E	probably benign	Het
Syne2	C	T	12: 75,942,885	T1847M	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tes	C	A	6: 17,104,652	N377K	probably benign	Het
Tfip11	T	A	5: 112,333,597	I452N	probably benign	Het
Tgfbi	T	C	13: 56,637,203	S658P	probably benign	Het
Tmx4	A	C	2: 134,620,674	D112E	probably damaging	Het
Tnn	G	T	1: 160,104,842	D1367E	probably damaging	Het
Triobp	A	G	15: 78,966,615	N323S	possibly damaging	Het
Usp40	T	C	1: 87,981,033	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,380,034	K440R	probably benign	Het
Zfp707	T	A	15: 75,974,899	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,541,725	Y472C	probably damaging	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
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	intron	probably null
R7163:Aox3	UTSW	1	58119512	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TCAGTCCTTGTCCTTGCAGG -3'
(R):5'- CCTCCTGTAACCCGTGAATCTG -3'

Sequencing Primer
(F):5'- CCTTGTCCTTGCAGGTAAGAGTC -3'
(R):5'- AACCCGTGAATCTGCTTGTGAG -3'

Posted On

2018-09-12