Incidental Mutation 'IGL01834:Aox2'
ID154895
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: 0.088) question?
Stock #IGL01834
Quality Score
Status
Chromosome1
Chromosomal Location58278326-58380259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58309024 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 634 (I634V)
Ref Sequence ENSEMBL: ENSMUSP00000110006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114366]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114366
AA Change: I634V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110006
Gene: ENSMUSG00000079554
AA Change: I634V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161126
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a4 T G 16: 29,415,777 probably benign Het
BC049715 A T 6: 136,840,491 Q243L probably benign Het
C2cd6 G A 1: 58,997,445 probably benign Het
Cd2ap C T 17: 42,826,360 probably null Het
Cd2ap T A 17: 42,826,361 probably null Het
Cd86 G A 16: 36,607,119 R283W probably benign Het
CK137956 T A 4: 127,946,649 K421N probably damaging Het
Coro2b G A 9: 62,431,357 T193I possibly damaging Het
Dido1 G A 2: 180,684,031 probably benign Het
Fas A G 19: 34,318,603 T149A probably benign Het
Gbp4 T A 5: 105,125,602 I121F probably damaging Het
Hes3 C T 4: 152,287,100 A106T probably damaging Het
Hyal2 T C 9: 107,570,906 Y253H probably damaging Het
Kcnt1 T C 2: 25,912,719 probably null Het
Klhl12 C A 1: 134,489,420 R557S probably damaging Het
Kmt2c T C 5: 25,395,455 T315A probably benign Het
Mchr1 A G 15: 81,237,865 Y272C probably damaging Het
Mroh7 T C 4: 106,680,874 I1202V probably benign Het
Mrpl38 T A 11: 116,135,314 K87* probably null Het
Msh6 A G 17: 87,985,712 T632A probably damaging Het
Myo9b T C 8: 71,356,318 I1767T probably damaging Het
Myo9b C A 8: 71,355,257 H1630Q possibly damaging Het
Naprt A G 15: 75,893,799 F92S probably damaging Het
Nsd3 T A 8: 25,640,652 I11N probably damaging Het
Olfr290 A G 7: 84,916,652 Y291C probably damaging Het
Otof T C 5: 30,399,220 T306A probably damaging Het
Pcdh18 A G 3: 49,756,830 F12S probably benign Het
Pcdhb12 A T 18: 37,437,639 N613Y probably damaging Het
Polr1a T C 6: 71,948,462 I731T probably benign Het
Ptprd G A 4: 76,128,595 T465I probably damaging Het
Rabgap1 A G 2: 37,564,761 probably benign Het
Ryr2 T A 13: 11,595,425 I607L possibly damaging Het
Slc39a9 G A 12: 80,673,299 probably benign Het
Srek1 C A 13: 103,748,785 probably benign Het
Ssb A G 2: 69,870,803 T377A possibly damaging Het
Sympk G T 7: 19,043,435 A537S probably benign Het
Tcf20 A G 15: 82,855,697 S518P probably damaging Het
Ttc39d A G 17: 80,216,046 K45E probably benign Het
Vmn1r40 T C 6: 89,714,572 F124L possibly damaging Het
Vmn2r69 A G 7: 85,412,368 Y133H probably damaging Het
Vmn2r79 A T 7: 87,037,146 E578D probably benign Het
Vwf G A 6: 125,590,170 probably benign Het
Zbtb11 A G 16: 55,991,008 N510D probably benign 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
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
Posted On2014-02-04