Mutagenetix > Incidental Mutation

Incidental Mutation 'R7899:Aox2'

628732

Institutional Source

Beutler Lab

Gene Symbol

Aox2

Ensembl Gene

ENSMUSG00000079554

Gene Name

aldehyde oxidase 2

Synonyms

Aox3l1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58278326-58380259 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 58281237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114366]

AlphaFold

Q5SGK3

Predicted Effect

probably null
Transcript: ENSMUST00000114366

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554

Domain	Start	End	E-Value	Type
Pfam:Fer2	13	83	3.4e-9	PFAM
Pfam:Fer2_2	92	166	4.2e-30	PFAM
Pfam:FAD_binding_5	241	421	5.1e-46	PFAM
CO_deh_flav_C	428	532	1.4e-23	SMART
Ald_Xan_dh_C	604	707	4.64e-47	SMART
Pfam:Ald_Xan_dh_C2	717	1251	1.3e-178	PFAM
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1285	1303	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,809,320	T49A	possibly damaging	Het
4932415D10Rik	A	G	10: 82,282,897	S4760P	unknown	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Aagab	T	C	9: 63,616,850	F80L	probably benign	Het
Arhgef2	T	C	3: 88,621,262	S2P	probably damaging	Het
Bcar3	T	G	3: 122,508,253	V199G	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1a	G	A	8: 84,594,173	V1587M	possibly damaging	Het
Caps2	C	A	10: 112,165,761	S19Y	possibly damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cobll1	A	G	2: 65,125,931	C328R	probably damaging	Het
Colec11	A	C	12: 28,595,282	V130G	probably damaging	Het
Dennd5b	A	T	6: 149,041,661	D572E	probably damaging	Het
Dido1	A	T	2: 180,671,597	S961T	possibly damaging	Het
Dnah7c	A	T	1: 46,514,701	M380L	probably benign	Het
Dnaic2	T	C	11: 114,738,630	I161T	probably benign	Het
Dnttip2	T	A	3: 122,282,369	M650K	probably damaging	Het
Dpp6	C	T	5: 27,721,079	P717L	probably benign	Het
Epha10	A	G	4: 124,914,835	E759G		Het
Frmd4a	T	C	2: 4,604,089	W923R	probably damaging	Het
Ftsj3	C	A	11: 106,252,289	E400*	probably null	Het
Gabra4	C	A	5: 71,657,995		probably benign	Het
Gfm1	T	A	3: 67,473,527	N658K	probably benign	Het
Gm21560	A	T	14: 6,218,220	I86N	probably damaging	Het
Gm6657	A	G	12: 78,197,422	N50D		Het
Gm9573	TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG	TCAGGGTGGGGGTAGAGCCTGAG	17: 35,620,601		probably benign	Het
Gpr68	C	A	12: 100,878,448	C279F	probably damaging	Het
Hspg2	G	A	4: 137,548,116	A2752T	possibly damaging	Het
Hydin	A	T	8: 110,587,748	D4288V	probably benign	Het
Ift74	A	G	4: 94,621,977	T82A	possibly damaging	Het
Ints7	T	A	1: 191,621,315	W918R	probably damaging	Het
Kcnc1	T	A	7: 46,427,821	I349N	probably damaging	Het
Loxl1	C	T	9: 58,290,834	D580N	probably damaging	Het
Mlph	A	T	1: 90,941,763	R496*	probably null	Het
Mtdh	A	G	15: 34,123,719	D364G	possibly damaging	Het
Mtmr11	C	A	3: 96,170,428	L580I	probably damaging	Het
Muc16	T	C	9: 18,640,697	I4767V	probably benign	Het
Myot	A	G	18: 44,354,184	T363A	probably benign	Het
Nfxl1	G	A	5: 72,524,215	P658S	probably damaging	Het
Nhlrc3	A	C	3: 53,461,659	S120A	probably benign	Het
Nmur2	C	A	11: 56,040,335	Q183H	probably benign	Het
Nucb2	T	A	7: 116,521,970	I45K	probably benign	Het
Nup155	A	T	15: 8,119,179	D277V	probably damaging	Het
Olfr995	T	C	2: 85,438,397	T254A	probably benign	Het
Orc1	T	G	4: 108,603,371		probably null	Het
Panx2	A	G	15: 89,068,733	T468A	possibly damaging	Het
Pcdh7	A	G	5: 57,719,810	S236G	probably benign	Het
Pcdhga2	G	C	18: 37,670,857	G585R	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pgr	T	G	9: 8,903,742	M588R	probably benign	Het
Ptpn18	A	T	1: 34,469,905		probably null	Het
Rbm8a2	T	A	1: 175,978,641	H90L	probably benign	Het
Ryr3	A	T	2: 112,646,950	L4507Q	possibly damaging	Het
Serpina12	A	G	12: 104,038,265	V36A	probably benign	Het
Sis	T	A	3: 72,937,251	S717C	probably damaging	Het
Slit2	A	G	5: 48,247,185	E846G	possibly damaging	Het
Smr3a	C	T	5: 88,008,227	H85Y	unknown	Het
Sned1	G	C	1: 93,274,082	R590P	probably benign	Het
Sult2a7	A	G	7: 14,465,209	Y298H	probably damaging	Het
Syn3	A	G	10: 86,064,929	V365A	possibly damaging	Het
Syne1	A	T	10: 5,227,956	Y4839*	probably null	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tbl3	G	T	17: 24,702,484	H478N	probably damaging	Het
Tcirg1	A	T	19: 3,899,104	I395N	probably damaging	Het
Ticrr	T	C	7: 79,669,485	I406T	probably benign	Het
Tmem120a	C	A	5: 135,737,198	K123N	probably benign	Het
Tmem173	A	G	18: 35,734,573	S357P	probably damaging	Het
Tmem184c	A	G	8: 77,597,811	V350A	probably damaging	Het
Tmem70	G	T	1: 16,677,044	M128I	probably benign	Het
Tmx3	A	T	18: 90,527,874		probably null	Het
Topors	G	C	4: 40,260,356	S976W	unknown	Het
Trp53	T	C	11: 69,590,693	L341P	probably damaging	Het
Usp14	T	C	18: 10,000,563	K366E	possibly damaging	Het
Zbtb49	G	T	5: 38,213,930	C202*	probably null	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het

Other mutations in Aox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Aox2	APN	1	58322801	missense	possibly damaging	0.73
IGL01288:Aox2	APN	1	58294407	missense	probably damaging	0.99
IGL01383:Aox2	APN	1	58294305	missense	probably benign	0.09
IGL01734:Aox2	APN	1	58354310	missense	possibly damaging	0.95
IGL01793:Aox2	APN	1	58336624	missense	possibly damaging	0.79
IGL01834:Aox2	APN	1	58309024	missense	possibly damaging	0.90
IGL01924:Aox2	APN	1	58287743	missense	possibly damaging	0.90
IGL02591:Aox2	APN	1	58358999	nonsense	probably null
IGL02645:Aox2	APN	1	58334724	missense	probably damaging	1.00
IGL02710:Aox2	APN	1	58334769	critical splice donor site	probably null
IGL02801:Aox2	APN	1	58354177	missense	probably damaging	1.00
IGL02988:Aox2	APN	1	58337350	missense	probably benign
IGL03104:Aox2	APN	1	58282759	missense	probably benign
IGL03121:Aox2	APN	1	58358954	missense	probably damaging	1.00
IGL03191:Aox2	APN	1	58359069	missense	probably null	0.98
IGL03236:Aox2	APN	1	58309997	nonsense	probably null
IGL03409:Aox2	APN	1	58354429	missense	possibly damaging	0.91
PIT4362001:Aox2	UTSW	1	58282680	missense	probably damaging	1.00
R0035:Aox2	UTSW	1	58354422	missense	probably benign	0.00
R0035:Aox2	UTSW	1	58354422	missense	probably benign	0.00
R0267:Aox2	UTSW	1	58339446	splice site	probably benign
R0388:Aox2	UTSW	1	58354406	missense	probably damaging	1.00
R0409:Aox2	UTSW	1	58336624	missense	possibly damaging	0.90
R0547:Aox2	UTSW	1	58310042	missense	probably damaging	0.96
R0630:Aox2	UTSW	1	58337321	splice site	probably benign
R0726:Aox2	UTSW	1	58334782	splice site	probably benign
R0734:Aox2	UTSW	1	58305341	missense	probably benign	0.22
R0831:Aox2	UTSW	1	58339683	missense	probably benign	0.28
R0961:Aox2	UTSW	1	58310071	missense	probably benign	0.00
R1404:Aox2	UTSW	1	58346212	splice site	probably benign
R1512:Aox2	UTSW	1	58307351	missense	probably benign	0.00
R1573:Aox2	UTSW	1	58309027	missense	probably benign	0.00
R1592:Aox2	UTSW	1	58300694	missense	probably benign	0.00
R1747:Aox2	UTSW	1	58339592	missense	probably benign	0.01
R1768:Aox2	UTSW	1	58354195	missense	probably benign	0.00
R1809:Aox2	UTSW	1	58294325	missense	probably benign
R1823:Aox2	UTSW	1	58312359	missense	probably benign	0.02
R1834:Aox2	UTSW	1	58308991	missense	probably benign	0.08
R1835:Aox2	UTSW	1	58308991	missense	probably benign	0.08
R1836:Aox2	UTSW	1	58308991	missense	probably benign	0.08
R2219:Aox2	UTSW	1	58349130	splice site	probably null
R2220:Aox2	UTSW	1	58349130	splice site	probably null
R2508:Aox2	UTSW	1	58343673	missense	probably benign	0.38
R2942:Aox2	UTSW	1	58337381	missense	probably benign	0.03
R2967:Aox2	UTSW	1	58322834	missense	probably damaging	0.96
R3082:Aox2	UTSW	1	58283600	splice site	probably benign
R3161:Aox2	UTSW	1	58304438	missense	possibly damaging	0.91
R3408:Aox2	UTSW	1	58343668	missense	probably benign	0.32
R3803:Aox2	UTSW	1	58289899	splice site	probably null
R3894:Aox2	UTSW	1	58334678	critical splice acceptor site	probably null
R4214:Aox2	UTSW	1	58307444	critical splice donor site	probably null
R4249:Aox2	UTSW	1	58299819	missense	probably benign	0.01
R4666:Aox2	UTSW	1	58304597	nonsense	probably null
R4668:Aox2	UTSW	1	58334694	missense	possibly damaging	0.63
R4703:Aox2	UTSW	1	58358957	missense	possibly damaging	0.78
R4758:Aox2	UTSW	1	58332582	missense	probably benign	0.00
R4890:Aox2	UTSW	1	58334703	missense	probably benign	0.11
R4900:Aox2	UTSW	1	58305385	missense	probably benign
R4924:Aox2	UTSW	1	58305344	missense	probably damaging	1.00
R4970:Aox2	UTSW	1	58310095	splice site	probably null
R5112:Aox2	UTSW	1	58310095	splice site	probably null
R5987:Aox2	UTSW	1	58307359	missense	probably benign	0.00
R6239:Aox2	UTSW	1	58305391	critical splice donor site	probably null
R6273:Aox2	UTSW	1	58339672	missense	probably benign	0.00
R6291:Aox2	UTSW	1	58330806	missense	probably damaging	0.98
R6334:Aox2	UTSW	1	58307407	nonsense	probably null
R6764:Aox2	UTSW	1	58350282	missense	probably damaging	0.97
R6766:Aox2	UTSW	1	58349068	missense	possibly damaging	0.95
R6789:Aox2	UTSW	1	58304485	missense	probably benign	0.01
R6804:Aox2	UTSW	1	58304598	missense	probably benign	0.04
R7007:Aox2	UTSW	1	58330892	missense	probably damaging	1.00
R7015:Aox2	UTSW	1	58282758	missense	probably benign	0.00
R7055:Aox2	UTSW	1	58299768	missense	probably benign	0.08
R7089:Aox2	UTSW	1	58336649	missense	probably benign	0.01
R7157:Aox2	UTSW	1	58283492	missense	probably benign	0.00
R7303:Aox2	UTSW	1	58334765	nonsense	probably null
R7426:Aox2	UTSW	1	58289983	nonsense	probably null
R7762:Aox2	UTSW	1	58349104	missense	probably damaging	1.00
R7942:Aox2	UTSW	1	58337431	missense	probably damaging	1.00
R7975:Aox2	UTSW	1	58309028	missense	probably benign	0.02
R8029:Aox2	UTSW	1	58343668	missense	probably benign	0.32
R8032:Aox2	UTSW	1	58350283	missense	probably benign	0.01
R8147:Aox2	UTSW	1	58300662	missense	probably benign	0.02
R8165:Aox2	UTSW	1	58308929	missense	probably benign	0.08
R8326:Aox2	UTSW	1	58295887	missense	probably benign
R8770:Aox2	UTSW	1	58339604	missense	probably benign	0.10
R8973:Aox2	UTSW	1	58289954	missense	probably benign	0.34
R9015:Aox2	UTSW	1	58343692	missense	probably damaging	1.00
R9097:Aox2	UTSW	1	58287728	missense	possibly damaging	0.82
R9101:Aox2	UTSW	1	58332637	missense	probably benign	0.03
R9108:Aox2	UTSW	1	58282692	missense	probably damaging	1.00
R9180:Aox2	UTSW	1	58339618	nonsense	probably null
R9258:Aox2	UTSW	1	58312356	missense	probably damaging	1.00
R9293:Aox2	UTSW	1	58322794	missense	possibly damaging	0.86
R9519:Aox2	UTSW	1	58334767	missense	probably damaging	0.98
R9581:Aox2	UTSW	1	58330896	critical splice donor site	probably null
Z1177:Aox2	UTSW	1	58354397	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CATTTCTACACGGGCCTTGTG -3'
(R):5'- GGAAGCTTTCTCCTCTCACCAG -3'

Sequencing Primer
(F):5'- GTGAGGCTCCTCTCCTGTAAATAAAC -3'
(R):5'- TCACCAGCCCAACTAATCTGATATTC -3'

Posted On

2020-06-17