Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Aox3'

675634

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58189460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 387 (I387K)

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: I387K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: I387K

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,544,749 (GRCm39)	D371V	probably damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
Gnmt	G	A	17: 47,037,618 (GRCm39)	T120M	probably damaging	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pfn4	T	A	12: 4,825,456 (GRCm39)	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,704,580 (GRCm39)	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Sp3	A	T	2: 72,801,630 (GRCm39)	Y172N	probably damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	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
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'- AAGAGTAGCAATGGTCTAAGCC -3'
(R):5'- GCTTCTCTATGCCAAAGCTAATTCAAG -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GCTAATTCAAGATTTGGAGAGAGAG -3'

Posted On

2021-07-15