Incidental Mutation 'IGL03409:Aox2'
ID421708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aox2
Ensembl Gene ENSMUSG00000079554
Gene Namealdehyde oxidase 2
SynonymsAox3l1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL03409
Quality Score
Status
Chromosome1
Chromosomal Location58278326-58380259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 58354429 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1249 (D1249E)
Ref Sequence ENSEMBL: ENSMUSP00000110006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114366]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114366
AA Change: D1249E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: D1249E

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Aox2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On2016-08-02