Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Aox2'

632834

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 #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58278326-58380259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58300662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 371 (N371K)

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

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

AlphaFold

Q5SGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000114366
AA Change: N371K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: N371K

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: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,742,513	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,357,380	I287N	probably damaging	Het
Atr	T	A	9: 95,899,060	F1392L	probably damaging	Het
Bicra	G	A	7: 15,988,470	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,679,176	R912Q	probably damaging	Het
Cdhr1	T	C	14: 37,079,652	N778S	probably benign	Het
Col4a3bp	C	T	13: 96,543,228	P22L	probably benign	Het
Dgat2	C	T	7: 99,156,980	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,158,327	D937G	probably benign	Het
Dqx1	T	C	6: 83,060,241	V295A	probably benign	Het
Dsg3	A	G	18: 20,540,073	T934A	probably benign	Het
Fam81b	A	C	13: 76,235,021	V243G	probably damaging	Het
Gen1	A	T	12: 11,255,050		probably null	Het
Glrx3	G	A	7: 137,463,007	S275N	probably benign	Het
Igdcc4	A	T	9: 65,123,971	Q397L	probably benign	Het
Ints6	C	T	14: 62,713,737	G281D	probably damaging	Het
Kalrn	A	T	16: 34,055,044	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,462,405	D567G	probably damaging	Het
Macf1	A	G	4: 123,491,698	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,143,979	R434C	probably damaging	Het
Mia3	A	T	1: 183,328,207	F358I		Het
Ncapd3	C	T	9: 27,030,718		probably benign	Het
Nfkb2	A	G	19: 46,307,434	R156G	possibly damaging	Het
Nus1	T	C	10: 52,429,320		probably null	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr1183	T	C	2: 88,462,083	F267L	possibly damaging	Het
Olfr1252	T	A	2: 89,721,842	I90F	probably damaging	Het
Olfr1384	C	T	11: 49,514,223	T195I	probably benign	Het
Pafah1b2	A	G	9: 45,983,849		probably null	Het
Pold2	T	C	11: 5,876,842	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,873,942	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,511,581	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,317,378	V293A	probably damaging	Het
Rpl18a	G	T	8: 70,895,425	T174N	probably damaging	Het
Senp5	A	T	16: 31,989,310	H375Q	probably benign	Het
Setbp1	A	T	18: 78,856,800	F1217L	probably damaging	Het
Skint4	A	G	4: 112,136,021	I314V	probably benign	Het
Slc28a2	A	G	2: 122,458,201	D596G	probably benign	Het
Stat5b	A	G	11: 100,797,781	I285T	probably benign	Het
Sycp3	T	C	10: 88,462,605		probably null	Het
Sympk	T	C	7: 19,036,793	F270L	probably damaging	Het
Taar5	T	C	10: 23,970,851	V49A	probably damaging	Het
Tbx18	C	T	9: 87,724,358	V245I	probably damaging	Het
Tet1	A	G	10: 62,878,807	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,529,910	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,214	I46V	probably benign	Het
Traf5	G	T	1: 192,062,684	N112K	probably damaging	Het
Trim12c	A	T	7: 104,341,958	M263K	unknown	Het
Trim55	A	G	3: 19,672,847	I359M	probably benign	Het
Utp20	A	T	10: 88,758,444	W2140R	probably benign	Het
Vgll3	T	C	16: 65,828,078	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,956,019	G474*	probably null	Het
Vps18	G	A	2: 119,292,756	A98T	probably benign	Het
Zfand4	T	A	6: 116,314,208	S387T	probably damaging	Het
Zfp808	A	G	13: 62,173,120	Y721C	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
R7899:Aox2	UTSW	1	58281237	splice site	probably null
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
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'- ATCGGGTCAGTCAACGAGAG -3'
(R):5'- ATGTACCTTCCTCATGATAGTCGC -3'

Sequencing Primer
(F):5'- GAGATGCCTCCCAACATACATGG -3'
(R):5'- ATGATAGTCGCTCCCTATGGTGAAC -3'

Posted On

2020-06-30