Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Aox2'

406824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aox2

Ensembl Gene

ENSMUSG00000079554

Gene Name

aldehyde oxidase 2

Synonyms

Aox3l1

Accession Numbers

Essential gene?

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

Stock #

IGL02988 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

58278326-58380259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58337350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 897 (V897L)

Ref Sequence

ENSEMBL: ENSMUSP00000110006 (fasta)

Gene Model

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

AlphaFold

Q5SGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000114366
AA Change: V897L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: V897L

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	G	1: 87,475,204		probably null	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
Adgrd1	G	A	5: 129,144,010	A488T	probably benign	Het
AF529169	A	G	9: 89,602,739	S202P	probably benign	Het
Ano3	T	C	2: 110,775,010	S284G	probably damaging	Het
Arl6	T	A	16: 59,613,846		probably null	Het
Blnk	G	A	19: 40,929,216	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590	T1221I	probably benign	Het
Cbll1	A	T	12: 31,492,172	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,036,484	Y279H	probably damaging	Het
Cflar	A	T	1: 58,741,031	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Cyp3a13	A	T	5: 137,899,010	Y347*	probably null	Het
Defa27	T	C	8: 21,315,567	S8P	probably damaging	Het
Depdc5	A	C	5: 32,956,167		probably null	Het
Dlg5	A	G	14: 24,166,255	F573S	probably damaging	Het
Fam20c	A	T	5: 138,755,994	E120V	probably benign	Het
Fam53a	T	C	5: 33,607,475	K296E	probably damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fndc1	T	C	17: 7,753,523	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,834,249		probably null	Het
Gm438	T	A	4: 144,786,530		probably benign	Het
Gm7582	G	A	1: 85,041,867		noncoding transcript	Het
Golga7b	A	C	19: 42,266,800	Y63S	probably damaging	Het
Hexb	A	G	13: 97,198,221	L14P	unknown	Het
Hsd17b3	A	C	13: 64,089,100	L10R	probably damaging	Het
Il6st	T	C	13: 112,498,886	F611L	probably damaging	Het
Ints13	T	A	6: 146,556,148	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,908,320	C685F	probably damaging	Het
Kif5c	A	G	2: 49,619,717	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,292,223		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrc2	G	A	11: 105,325,571	R62Q	probably benign	Het
Myo1g	T	C	11: 6,508,183		probably benign	Het
Myo5a	A	T	9: 75,130,141		probably benign	Het
Nobox	G	A	6: 43,305,161	S326L	possibly damaging	Het
Nsl1	C	A	1: 191,063,103	S22*	probably null	Het
Olfr1052	T	C	2: 86,298,479	I221T	probably damaging	Het
Olfr1469	A	C	19: 13,411,462	K298Q	possibly damaging	Het
Pdia3	T	A	2: 121,429,556	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,503,605	R940*	probably null	Het
Plcd3	T	A	11: 103,076,742	Q458L	probably benign	Het
Polm	T	A	11: 5,836,343	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,003,114	K917*	probably null	Het
Rad54l2	A	G	9: 106,700,585	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,247,811		probably null	Het
Rnf215	A	G	11: 4,136,785	E194G	probably damaging	Het
Rorb	A	T	19: 18,937,972	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,248,588	G378V	probably damaging	Het
Sema6a	G	T	18: 47,298,214	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,078,536	M274K	probably benign	Het
Siglec15	A	C	18: 78,049,247	L32R	probably damaging	Het
Siglecg	A	T	7: 43,418,052	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,326,107		probably benign	Het
Slc9b2	G	T	3: 135,318,418	A77S	probably benign	Het
Slit3	T	A	11: 35,708,063	V1498D	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Stxbp2	T	C	8: 3,633,267		probably benign	Het
Tbc1d9b	T	C	11: 50,151,946	S482P	possibly damaging	Het
Tec	A	G	5: 72,768,747	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,235,346	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,165,542		probably null	Het
Tm4sf1	A	T	3: 57,293,116		probably null	Het
Tmcc1	T	C	6: 116,042,928	E306G	probably damaging	Het
Traf3ip3	A	T	1: 193,194,874		probably null	Het
Utf1	C	T	7: 139,943,962	P30L	possibly damaging	Het
Wdfy3	A	T	5: 101,929,981	C880S	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
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
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

Posted On

2016-08-02