Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Aox3'

229394

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

AOH1, 1200011D03Rik

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58113130-58200698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58186280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1179 (I1179F)

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: I1179F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: I1179F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933 (GRCm38)	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719 (GRCm38)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604 (GRCm38)	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094 (GRCm38)	W449R	probably benign	Het
Atp10a	C	A	7: 58,824,327 (GRCm38)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148 (GRCm38)	A123V	probably benign	Het
Car6	T	C	4: 150,198,141 (GRCm38)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096 (GRCm38)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537 (GRCm38)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816 (GRCm38)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206 (GRCm38)	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962 (GRCm38)	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100 (GRCm38)	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306 (GRCm38)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468 (GRCm38)	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745 (GRCm38)	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419 (GRCm38)		probably benign	Het
Gm1527	T	A	3: 28,926,661 (GRCm38)	C637S	probably benign	Het
H1f1	A	G	13: 23,763,949 (GRCm38)	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291 (GRCm38)	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552 (GRCm38)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717 (GRCm38)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960 (GRCm38)	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527 (GRCm38)	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959 (GRCm38)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824 (GRCm38)	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754 (GRCm38)	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941 (GRCm38)		probably null	Het
Naip5	A	G	13: 100,221,533 (GRCm38)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm38)		probably benign	Het
Nemf	A	G	12: 69,353,786 (GRCm38)		probably benign	Het
Nfil3	A	T	13: 52,968,033 (GRCm38)	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424 (GRCm38)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393 (GRCm38)	M753K	probably benign	Het
Or13c3	T	C	4: 52,855,568 (GRCm38)	Y315C	probably benign	Het
Or2b6	A	T	13: 21,639,436 (GRCm38)	V29E	probably damaging	Het
Or4k47	C	T	2: 111,621,739 (GRCm38)	V112M	probably benign	Het
Or51f5	T	C	7: 102,775,243 (GRCm38)	F240L	probably benign	Het
Or8b42	T	A	9: 38,431,082 (GRCm38)	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123 (GRCm38)	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013 (GRCm38)		probably benign	Het
Ppm1f	T	A	16: 16,923,880 (GRCm38)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847 (GRCm38)	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505 (GRCm38)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376 (GRCm38)	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445 (GRCm38)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774 (GRCm38)	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082 (GRCm38)	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325 (GRCm38)	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487 (GRCm38)	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667 (GRCm38)	D480A	probably damaging	Het

Other mutations in Aox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Aox3	APN	1	58,169,794 (GRCm38)	missense	probably damaging	1.00
IGL01747:Aox3	APN	1	58,159,658 (GRCm38)	missense	probably damaging	0.97
IGL01883:Aox3	APN	1	58,138,283 (GRCm38)	missense	probably damaging	1.00
IGL01911:Aox3	APN	1	58,152,560 (GRCm38)	missense	probably benign	0.04
IGL02017:Aox3	APN	1	58,120,992 (GRCm38)	missense	probably damaging	1.00
IGL02120:Aox3	APN	1	58,127,650 (GRCm38)	missense	probably benign	0.00
IGL02466:Aox3	APN	1	58,158,272 (GRCm38)	missense	probably benign	0.28
IGL02545:Aox3	APN	1	58,183,486 (GRCm38)	missense	probably damaging	1.00
IGL02572:Aox3	APN	1	58,158,367 (GRCm38)	missense	probably damaging	1.00
IGL02746:Aox3	APN	1	58,183,542 (GRCm38)	missense	possibly damaging	0.83
IGL02808:Aox3	APN	1	58,142,700 (GRCm38)	missense	probably damaging	0.99
IGL02812:Aox3	APN	1	58,165,896 (GRCm38)	missense	probably benign	0.00
IGL02982:Aox3	APN	1	58,127,687 (GRCm38)	missense	probably benign	0.00
IGL03056:Aox3	APN	1	58,159,021 (GRCm38)	critical splice donor site	probably null
IGL03182:Aox3	APN	1	58,165,887 (GRCm38)	missense	probably benign	0.02
IGL03234:Aox3	APN	1	58,152,686 (GRCm38)	missense	probably benign
IGL03374:Aox3	APN	1	58,171,848 (GRCm38)	missense	probably damaging	1.00
amber	UTSW	1	58,171,891 (GRCm38)	nonsense	probably null
R0071:Aox3	UTSW	1	58,171,891 (GRCm38)	nonsense	probably null
R0071:Aox3	UTSW	1	58,171,891 (GRCm38)	nonsense	probably null
R0135:Aox3	UTSW	1	58,125,088 (GRCm38)	splice site	probably benign
R0332:Aox3	UTSW	1	58,142,751 (GRCm38)	missense	probably benign	0.00
R0626:Aox3	UTSW	1	58,172,299 (GRCm38)	missense	possibly damaging	0.94
R1325:Aox3	UTSW	1	58,176,567 (GRCm38)	nonsense	probably null
R1435:Aox3	UTSW	1	58,163,446 (GRCm38)	critical splice donor site	probably null
R1438:Aox3	UTSW	1	58,153,178 (GRCm38)	missense	probably benign
R1567:Aox3	UTSW	1	58,194,693 (GRCm38)	missense	probably damaging	0.96
R1575:Aox3	UTSW	1	58,152,554 (GRCm38)	missense	probably benign	0.04
R1759:Aox3	UTSW	1	58,170,646 (GRCm38)	splice site	probably null
R1785:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R1786:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R1921:Aox3	UTSW	1	58,180,651 (GRCm38)	missense	probably damaging	1.00
R1984:Aox3	UTSW	1	58,153,061 (GRCm38)	missense	possibly damaging	0.88
R2012:Aox3	UTSW	1	58,138,232 (GRCm38)	missense	probably benign	0.02
R2121:Aox3	UTSW	1	58,152,549 (GRCm38)	splice site	probably benign
R2126:Aox3	UTSW	1	58,158,216 (GRCm38)	missense	probably benign	0.25
R2130:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R2131:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R2132:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R2133:Aox3	UTSW	1	58,169,843 (GRCm38)	missense	probably damaging	1.00
R2385:Aox3	UTSW	1	58,138,289 (GRCm38)	missense	probably damaging	1.00
R2495:Aox3	UTSW	1	58,188,408 (GRCm38)	missense	probably damaging	0.99
R4200:Aox3	UTSW	1	58,188,378 (GRCm38)	missense	probably damaging	1.00
R4231:Aox3	UTSW	1	58,114,885 (GRCm38)	missense	probably benign	0.12
R4591:Aox3	UTSW	1	58,152,656 (GRCm38)	missense	probably damaging	0.99
R4627:Aox3	UTSW	1	58,125,035 (GRCm38)	missense	probably damaging	0.98
R4831:Aox3	UTSW	1	58,152,566 (GRCm38)	missense	probably damaging	0.97
R4864:Aox3	UTSW	1	58,176,487 (GRCm38)	missense	probably damaging	1.00
R4976:Aox3	UTSW	1	58,188,524 (GRCm38)	critical splice donor site	probably null
R5007:Aox3	UTSW	1	58,163,424 (GRCm38)	missense	probably benign
R5119:Aox3	UTSW	1	58,188,524 (GRCm38)	critical splice donor site	probably null
R5175:Aox3	UTSW	1	58,172,328 (GRCm38)	missense	probably benign	0.01
R5360:Aox3	UTSW	1	58,146,508 (GRCm38)	missense	probably damaging	1.00
R5784:Aox3	UTSW	1	58,153,499 (GRCm38)	missense	probably benign	0.00
R6050:Aox3	UTSW	1	58,180,655 (GRCm38)	missense	possibly damaging	0.93
R6056:Aox3	UTSW	1	58,169,859 (GRCm38)	missense	probably damaging	1.00
R6162:Aox3	UTSW	1	58,159,731 (GRCm38)	missense	possibly damaging	0.75
R6181:Aox3	UTSW	1	58,158,946 (GRCm38)	missense	probably benign	0.03
R6374:Aox3	UTSW	1	58,172,161 (GRCm38)	missense	probably benign	0.11
R6662:Aox3	UTSW	1	58,118,615 (GRCm38)	missense	probably damaging	1.00
R6809:Aox3	UTSW	1	58,118,681 (GRCm38)	missense	probably damaging	0.99
R6810:Aox3	UTSW	1	58,141,431 (GRCm38)	missense	probably benign	0.00
R6821:Aox3	UTSW	1	58,150,388 (GRCm38)	missense	probably benign	0.04
R7039:Aox3	UTSW	1	58,176,555 (GRCm38)	missense	probably damaging	1.00
R7116:Aox3	UTSW	1	58,153,530 (GRCm38)	missense	probably benign	0.01
R7146:Aox3	UTSW	1	58,158,529 (GRCm38)	splice site	probably null
R7163:Aox3	UTSW	1	58,119,512 (GRCm38)	missense	probably damaging	0.99
R7243:Aox3	UTSW	1	58,138,307 (GRCm38)	missense	unknown
R7319:Aox3	UTSW	1	58,152,602 (GRCm38)	missense	probably benign	0.04
R7423:Aox3	UTSW	1	58,121,069 (GRCm38)	missense	possibly damaging	0.80
R7664:Aox3	UTSW	1	58,119,539 (GRCm38)	missense	probably damaging	1.00
R7709:Aox3	UTSW	1	58,180,651 (GRCm38)	missense	probably damaging	1.00
R7745:Aox3	UTSW	1	58,176,517 (GRCm38)	missense	possibly damaging	0.75
R7751:Aox3	UTSW	1	58,179,335 (GRCm38)	missense	probably benign	0.11
R7912:Aox3	UTSW	1	58,142,696 (GRCm38)	missense	probably benign	0.05
R7940:Aox3	UTSW	1	58,188,437 (GRCm38)	missense	probably damaging	1.00
R8143:Aox3	UTSW	1	58,158,915 (GRCm38)	missense	probably benign	0.05
R8178:Aox3	UTSW	1	58,150,322 (GRCm38)	missense	possibly damaging	0.64
R8719:Aox3	UTSW	1	58,119,537 (GRCm38)	missense	probably damaging	1.00
R8861:Aox3	UTSW	1	58,150,301 (GRCm38)	missense	probably benign
R9379:Aox3	UTSW	1	58,169,800 (GRCm38)	missense	possibly damaging	0.77
R9459:Aox3	UTSW	1	58,150,309 (GRCm38)	missense	probably benign	0.10
R9472:Aox3	UTSW	1	58,176,510 (GRCm38)	missense	possibly damaging	0.47
R9479:Aox3	UTSW	1	58,138,409 (GRCm38)	missense	probably benign	0.23
R9521:Aox3	UTSW	1	58,125,063 (GRCm38)	missense	probably benign	0.10
R9750:Aox3	UTSW	1	58,176,489 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACTCCATGTCAACAACTCTTTG -3'
(R):5'- GTTATTTGGTGATTCCCAGAAGATG -3'

Sequencing Primer
(F):5'- ATGTCAACAACTCTTTGGTCAC -3'
(R):5'- CAGAAGATGGAGTTGCGTCTTC -3'

Posted On

2014-09-17