Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Aox3'

715501

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 #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58215669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1034 (V1034L)

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

possibly damaging
Transcript: ENSMUST00000040999
AA Change: V1034L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: V1034L

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,127,248 (GRCm39)	K449N	probably benign	Het
Adam39	G	A	8: 41,279,351 (GRCm39)	V581I	possibly damaging	Het
Agrn	A	G	4: 156,254,841 (GRCm39)	F1625S		Het
Baz2a	T	G	10: 127,948,624 (GRCm39)	S302A	probably benign	Het
Capn9	T	C	8: 125,325,534 (GRCm39)		probably null	Het
Ccdc153	A	T	9: 44,154,923 (GRCm39)	Q104L	possibly damaging	Het
Cdh1	A	T	8: 107,380,248 (GRCm39)	N168I	probably damaging	Het
Crisp3	A	T	17: 40,539,676 (GRCm39)		probably null	Het
Ctsb	T	C	14: 63,379,186 (GRCm39)	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,502,043 (GRCm39)	R144L	probably damaging	Het
Elmo1	C	T	13: 20,470,897 (GRCm39)	A263V	probably benign	Het
Enkur	T	C	2: 21,201,590 (GRCm39)	R32G	possibly damaging	Het
Fsip2	T	A	2: 82,817,285 (GRCm39)	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,182,741 (GRCm39)	M268R	probably damaging	Het
Herc2	T	A	7: 55,813,843 (GRCm39)	W2659R	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Ino80e	A	G	7: 126,461,127 (GRCm39)	V40A	unknown	Het
Ints2	T	C	11: 86,133,824 (GRCm39)	T409A		Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,596,197 (GRCm39)	V787A	probably benign	Het
Klhl32	A	G	4: 24,629,273 (GRCm39)	V465A	probably benign	Het
Kmt2a	C	A	9: 44,733,453 (GRCm39)	R2288L	unknown	Het
Megf6	G	A	4: 154,333,910 (GRCm39)	G213S	probably damaging	Het
Mt2	T	A	8: 94,899,999 (GRCm39)	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,710,159 (GRCm39)	V690A	probably damaging	Het
Obscn	T	C	11: 58,894,495 (GRCm39)	H6670R		Het
Or4c111	A	C	2: 88,843,517 (GRCm39)	I297S	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,618,919 (GRCm39)	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,308,079 (GRCm39)	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,702,711 (GRCm39)	D184G	probably damaging	Het
Rassf6	A	T	5: 90,765,572 (GRCm39)	Y46*	probably null	Het
Rmdn2	T	A	17: 79,989,096 (GRCm39)	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 21,113,119 (GRCm39)	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,260,296 (GRCm39)	K34E	probably benign	Het
Runx3	A	G	4: 134,898,441 (GRCm39)	D204G	probably damaging	Het
Sbf2	A	G	7: 109,970,798 (GRCm39)	I866T	possibly damaging	Het
Sgtb	A	C	13: 104,247,681 (GRCm39)	E28D	probably benign	Het
Slc38a8	T	A	8: 120,227,888 (GRCm39)	K14M	probably damaging	Het
Spast	T	C	17: 74,681,143 (GRCm39)	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,719,101 (GRCm39)	T147A	probably damaging	Het
Tmem208	T	C	8: 106,055,027 (GRCm39)	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,501,052 (GRCm39)	I250V	probably benign	Het
Usp24	A	G	4: 106,261,128 (GRCm39)	T1628A	probably benign	Het
Vmn2r14	G	T	5: 109,367,962 (GRCm39)	N343K	probably benign	Het
Xrcc6	T	A	15: 81,913,328 (GRCm39)	Y320*	probably null	Het
Zbtb10	A	C	3: 9,343,355 (GRCm39)	T627P	probably benign	Het
Zfp532	A	T	18: 65,756,624 (GRCm39)	K186*	probably null	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
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'- GCATCAAAGTGCATGATTGTCAC -3'
(R):5'- AGAACAAGCTGGGATTCTGTGG -3'

Sequencing Primer
(F):5'- AGCTAAGTTTCCACCAGC -3'
(R):5'- TGGATATGTTGGCTAGCTCAAC -3'

Posted On

2022-06-15