Incidental Mutation 'IGL01287:Maob'
ID 72762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maob
Ensembl Gene ENSMUSG00000040147
Gene Name monoamine oxidase B
Synonyms 6330414K01Rik, MAO-B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL01287
Quality Score
Status
Chromosome X
Chromosomal Location 16575521-16683605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16578881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 424 (A424V)
Ref Sequence ENSEMBL: ENSMUSP00000040550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040820] [ENSMUST00000168613]
AlphaFold Q8BW75
Predicted Effect probably damaging
Transcript: ENSMUST00000040820
AA Change: A424V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040550
Gene: ENSMUSG00000040147
AA Change: A424V

DomainStartEndE-ValueType
Pfam:FAD_binding_2 6 45 7.9e-8 PFAM
Pfam:NAD_binding_8 9 75 4.1e-16 PFAM
Pfam:Amino_oxidase 14 451 7.6e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168613
SMART Domains Protein: ENSMUSP00000127235
Gene: ENSMUSG00000040147

DomainStartEndE-ValueType
Pfam:Thi4 2 46 8.7e-6 PFAM
Pfam:FAD_binding_3 4 52 1.9e-5 PFAM
Pfam:FAD_binding_2 6 46 6.4e-7 PFAM
Pfam:Pyr_redox 6 52 2e-5 PFAM
Pfam:DAO 6 81 4.2e-6 PFAM
Pfam:NAD_binding_8 9 75 3.9e-15 PFAM
Pfam:Amino_oxidase 14 162 2.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased brain levels and urinary excretion of beta-phenylethylamine, stress-induced hyperactivity, and decreased susceptibility to dopaminergic neuron neurotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Naxe T C 3: 87,963,981 (GRCm39) H250R probably damaging Het
Nek5 T C 8: 22,601,199 (GRCm39) N174S possibly damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or51l14 C T 7: 103,101,002 (GRCm39) R153W probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Pmm1 T C 15: 81,839,945 (GRCm39) T127A probably damaging Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Slfn5 A G 11: 82,847,807 (GRCm39) T231A probably damaging Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Maob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Maob APN X 16,578,808 (GRCm39) missense possibly damaging 0.94
R0616:Maob UTSW X 16,576,402 (GRCm39) missense possibly damaging 0.76
R4711:Maob UTSW X 16,582,662 (GRCm39) missense probably benign
R4832:Maob UTSW X 16,582,662 (GRCm39) missense probably benign
R5112:Maob UTSW X 16,582,662 (GRCm39) missense probably benign
R5113:Maob UTSW X 16,582,662 (GRCm39) missense probably benign
Posted On 2013-10-07