Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Aox2'

19386

Institutional Source

Beutler Lab

Gene Symbol

Aox2

Ensembl Gene

ENSMUSG00000079554

Gene Name

aldehyde oxidase 2

Synonyms

Aox3l1

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0035 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58278326-58380259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58354422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1247 (V1247A)

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

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

AlphaFold

Q5SGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000114366
AA Change: V1247A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: V1247A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,788,549	T20A	probably benign	Het
4932438A13Rik	T	A	3: 36,987,598	Y2708*	probably null	Het
9130011E15Rik	A	T	19: 45,891,240	M558K	probably damaging	Het
Aadacl4	A	G	4: 144,617,941	T96A	probably damaging	Het
Abcb6	A	G	1: 75,175,007	V473A	possibly damaging	Het
Abo	C	A	2: 26,843,373	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,315,779		probably benign	Het
Adcy8	A	T	15: 64,699,368	V1142D	probably benign	Het
Akna	T	A	4: 63,382,445	H591L	probably benign	Het
Ap4b1	T	C	3: 103,820,664		probably benign	Het
Atm	A	G	9: 53,513,180	V607A	probably benign	Het
Cass4	C	T	2: 172,416,492	P137S	probably damaging	Het
Cfap53	A	G	18: 74,300,207	E121G	probably damaging	Het
Chmp6	T	C	11: 119,916,682	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,967,549	Y185N	probably damaging	Het
Clic5	A	G	17: 44,275,313	T230A	probably damaging	Het
Clspn	G	T	4: 126,565,003		probably null	Het
Cntn1	T	A	15: 92,232,088		probably benign	Het
Col4a3	G	A	1: 82,672,753	G577R	unknown	Het
Defa21	T	A	8: 21,025,768		probably null	Het
Deup1	T	C	9: 15,599,821	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,683,621		probably benign	Het
Dnase1l2	A	G	17: 24,441,075	V273A	probably damaging	Het
Gm5134	T	A	10: 75,993,864	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,690	E96D	probably damaging	Het
Hspd1	A	G	1: 55,083,783	V151A	probably benign	Het
Htr1f	A	C	16: 64,926,497	I144S	probably damaging	Het
Il1f8	A	T	2: 24,159,878	H167L	probably benign	Het
Il23r	A	G	6: 67,473,788		probably benign	Het
Il25	A	G	14: 54,933,096	E42G	probably damaging	Het
Klrb1-ps1	C	T	6: 129,129,343	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,485,621		probably benign	Het
Ktn1	A	G	14: 47,730,379	N1167D	probably benign	Het
Lama4	T	A	10: 39,072,738	D832E	probably benign	Het
Map1b	A	G	13: 99,435,338	S292P	probably damaging	Het
Map6	C	T	7: 99,317,608	T345I	probably damaging	Het
Mark2	A	T	19: 7,284,652		probably benign	Het
Me3	C	A	7: 89,851,759	H559Q	probably benign	Het
Myo1b	A	G	1: 51,778,382	F574L	probably damaging	Het
Nos2	T	C	11: 78,945,727	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,949,573	K208*	probably null	Het
Nup214	T	C	2: 31,990,367		probably null	Het
Obp2b	T	C	2: 25,738,633	L133P	probably damaging	Het
Olfr173	A	T	16: 58,797,122	C241*	probably null	Het
Olfr305	T	C	7: 86,364,187	D50G	possibly damaging	Het
Osbp2	C	T	11: 3,717,997		probably benign	Het
Ptafr	C	A	4: 132,579,553	L85I	probably benign	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Rad50	A	G	11: 53,655,027		probably benign	Het
Rasef	G	T	4: 73,762,854		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,256,737	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,841,408	N587D	probably benign	Het
Trank1	A	T	9: 111,366,776	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,224,320	S333P	probably damaging	Het
Ush2a	G	A	1: 188,356,888	V347I	probably benign	Het
Usp17le	G	T	7: 104,769,062	S291*	probably null	Het
Usp24	T	A	4: 106,368,027	S619T	probably benign	Het
Vmn2r10	T	C	5: 108,997,601		probably benign	Het
Vmn2r78	A	G	7: 86,920,205	E102G	probably benign	Het
Vwa3b	G	A	1: 37,165,689	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116	I639R	probably damaging	Het
Xpo5	A	G	17: 46,240,175	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,143,747	M235K	probably benign	Het
Zfp619	G	A	7: 39,537,282	G912D	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
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
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'- AGTGGAAACCCCTTCCTAAGAGTGG -3'
(R):5'- AAGTGTTCCTCTCCCAAGAAGCCC -3'

Sequencing Primer
(F):5'- GTCGCAGGGTACTTAAGGC -3'
(R):5'- GCCTGGTCCAGATAACCATGAG -3'

Posted On

2013-04-11