Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Aox3'

533678

Institutional Source

Beutler Lab

Gene Symbol

Aox3

Ensembl Gene

ENSMUSG00000064294

Gene Name

aldehyde oxidase 3

Synonyms

1200011D03Rik, AOH1

MMRRC Submission

044922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58152289-58239857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58157840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 66 (S66P)

Ref Sequence

ENSEMBL: ENSMUSP00000140140 (fasta)

Gene Model

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

AlphaFold

G3X982

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040999
AA Change: S66P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: S66P

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: S66P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
AA Change: S66P

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,089 (GRCm39)	V147E	possibly damaging	Het
Abtb3	A	G	10: 85,467,240 (GRCm39)	T732A	probably benign	Het
Adgrv1	A	T	13: 81,621,072 (GRCm39)	M3893K	probably benign	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,787,961 (GRCm39)	V141A	probably benign	Het
Bltp1	A	G	3: 36,928,431 (GRCm39)	N61S	probably damaging	Het
Col28a1	T	C	6: 7,999,468 (GRCm39)	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,170,864 (GRCm39)	V842A	probably benign	Het
Dapk1	A	G	13: 60,899,103 (GRCm39)	S858G	probably benign	Het
Dlgap2	G	T	8: 14,229,619 (GRCm39)		probably benign	Het
Dpysl4	A	G	7: 138,673,576 (GRCm39)	D199G	probably benign	Het
Eml6	C	T	11: 29,753,161 (GRCm39)	V917I	probably benign	Het
Fut9	T	A	4: 25,620,647 (GRCm39)	T56S	probably benign	Het
Gtdc1	G	C	2: 44,465,563 (GRCm39)	S214*	probably null	Het
Gtdc1	A	G	2: 44,715,396 (GRCm39)	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,529,590 (GRCm39)	Y282C	probably damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Krt36	A	T	11: 99,996,335 (GRCm39)	S30T	probably benign	Het
Lrp1	A	G	10: 127,390,925 (GRCm39)	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,688,749 (GRCm39)	Q184L	possibly damaging	Het
Mapk1	A	T	16: 16,853,326 (GRCm39)	M49L	probably benign	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mrpl48	A	G	7: 100,195,574 (GRCm39)		probably benign	Het
Ncln	A	G	10: 81,323,512 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,053,882 (GRCm39)	Q96L	probably damaging	Het
Or2y1e	G	T	11: 49,218,687 (GRCm39)	V150L	probably benign	Het
Or5g25	G	A	2: 85,478,317 (GRCm39)	A116V	probably damaging	Het
Padi2	A	G	4: 140,674,077 (GRCm39)		probably null	Het
Pak5	T	G	2: 135,939,501 (GRCm39)	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,876,064 (GRCm39)	R157W	probably null	Het
Pard3b	G	A	1: 62,200,340 (GRCm39)	R293H	probably damaging	Het
Phf11d	C	A	14: 59,593,844 (GRCm39)	C110F	probably damaging	Het
Pkn2	G	A	3: 142,504,765 (GRCm39)	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,584,611 (GRCm39)	C743Y	possibly damaging	Het
Pramel14	A	G	4: 143,719,651 (GRCm39)	V238A	probably benign	Het
Pramel58	C	A	5: 94,831,277 (GRCm39)	Q95K	probably benign	Het
Psip1	A	G	4: 83,386,879 (GRCm39)	M164T	probably benign	Het
Rgs22	C	G	15: 36,048,910 (GRCm39)	S914T	probably damaging	Het
Rufy4	G	A	1: 74,172,206 (GRCm39)	V310I	probably benign	Het
Ryr2	G	A	13: 11,741,816 (GRCm39)	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,798,036 (GRCm39)	N142T	probably benign	Het
Slc27a6	A	G	18: 58,738,126 (GRCm39)	E394G	probably benign	Het
Slc29a2	T	C	19: 5,079,271 (GRCm39)	V298A	probably damaging	Het
Slf2	C	A	19: 44,931,907 (GRCm39)	T654N	probably damaging	Het
Spata4	A	C	8: 55,055,368 (GRCm39)	K123Q	possibly damaging	Het
Taar7b	T	C	10: 23,876,756 (GRCm39)	V307A	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ttn	T	C	2: 76,693,983 (GRCm39)	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,462,679 (GRCm39)	Q48L	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,647 (GRCm39)	D148E	probably damaging	Het
Vmn2r85	T	A	10: 130,261,795 (GRCm39)	N181Y	probably benign	Het
Wdfy3	C	T	5: 102,071,813 (GRCm39)	V1026I	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
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
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'- AGACGCATTCTGATGTCATCCTTG -3'
(R):5'- TGGTGAACGTACAAAGTCCC -3'

Sequencing Primer
(F):5'- GTCATCCTTGTGGTTGGTAAAAAC -3'
(R):5'- GTAGTGCCAACATTGCTAGGACTC -3'

Posted On

2018-09-12