Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:Aox2'

704370

Institutional Source

Beutler Lab

Gene Symbol

Aox2

Ensembl Gene

ENSMUSG00000079554

Gene Name

aldehyde oxidase 2

Synonyms

Aox3l1

MMRRC Submission

068991-MU

Accession Numbers

Essential gene?

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

Stock #

R9293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58278326-58380259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58322794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 720 (N720Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

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

AlphaFold

Q5SGK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114366
AA Change: N720Y

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: N720Y

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,078	S343P	possibly damaging	Het
1700007G11Rik	C	T	5: 98,498,303	A86V	probably benign	Het
4930563M21Rik	T	A	9: 56,009,284	E36D	unknown	Het
Abcc8	T	G	7: 46,106,668	K1450T	probably benign	Het
AW549877	T	C	15: 3,991,854	D73G	probably damaging	Het
BC034090	T	C	1: 155,225,772	T249A	probably benign	Het
Brf2	A	T	8: 27,123,993	S388R	probably damaging	Het
Ccdc180	A	T	4: 45,944,461	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,849,825	D375A	probably benign	Het
Cep85l	T	C	10: 53,298,186	Y487C	probably damaging	Het
Chd3	C	T	11: 69,353,201	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,712,620	R793S	possibly damaging	Het
Crat	A	G	2: 30,408,202	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,774,377	V495L	probably benign	Het
Dchs2	C	T	3: 83,282,054	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,009,960	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,773,059	A109V	probably benign	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fry	T	C	5: 150,495,832	S546P		Het
Hfe	T	C	13: 23,706,809	K204E	probably benign	Het
Hibch	T	A	1: 52,913,827	Y329N	probably damaging	Het
Irf9	T	G	14: 55,608,790	I426S	probably damaging	Het
Kif26a	C	A	12: 112,146,401	P13T	probably damaging	Het
Lhx5	A	C	5: 120,432,386	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,799,588	F193L	probably damaging	Het
Mybl2	G	A	2: 163,068,215	G187E	probably damaging	Het
Myh1	A	T	11: 67,209,103	Q613L	probably benign	Het
Myo5a	T	A	9: 75,180,030	M1056K	probably benign	Het
Olfr1	T	C	11: 73,395,129	K298E	probably damaging	Het
Olfr1197	G	A	2: 88,729,455	T48I	probably benign	Het
Olfr610	C	T	7: 103,506,520	R142H	probably benign	Het
Olfr918	T	C	9: 38,673,118	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,767,887	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,565,286	S161P	probably damaging	Het
Pmfbp1	A	G	8: 109,536,573	T775A	probably benign	Het
Pou3f3	T	C	1: 42,697,522	V126A	unknown	Het
Reg4	A	C	3: 98,236,315	K142Q	possibly damaging	Het
Sec22c	G	T	9: 121,688,248	A199E	probably damaging	Het
Sema3d	C	T	5: 12,553,214	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,232,039	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,214,790	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,569,366	D194V	probably damaging	Het
Stoml3	T	C	3: 53,500,764	V77A	possibly damaging	Het
Taco1	A	G	11: 106,073,104	I230V	probably benign	Het
Tfcp2	T	C	15: 100,514,053	T346A	probably benign	Het
Tmem8b	C	T	4: 43,686,188	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,638,842	N73S	probably benign	Het
Trav6d-5	A	G	14: 52,795,603	D103G	probably damaging	Het
Ttll5	T	A	12: 85,891,032	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,598,848		probably benign	Het
Ubr3	A	C	2: 69,897,425	D44A	probably benign	Het
Upp2	G	T	2: 58,567,431	R5L	unknown	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,452,846	T670I	probably damaging	Het
Zfp433	A	T	10: 81,720,288	H208L	probably damaging	Het
Zfp616	A	T	11: 74,083,918	I429F	possibly 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
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
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'- AGGACAGTCCCTCTGATTCC -3'
(R):5'- AAGGATGCACGAGGCTTTG -3'

Sequencing Primer
(F):5'- CTTGTGTACTCTAGAACTCTTGAATG -3'
(R):5'- CAGGCCTTCAGAGGATGAGC -3'

Posted On

2022-03-25