Incidental Mutation 'IGL01411:Maob'
ID 80015
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 # IGL01411
Quality Score
Status
Chromosome X
Chromosomal Location 16575521-16683605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16578808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 448 (R448S)
Ref Sequence ENSEMBL: ENSMUSP00000040550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040820] [ENSMUST00000168613]
AlphaFold Q8BW75
Predicted Effect possibly damaging
Transcript: ENSMUST00000040820
AA Change: R448S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040550
Gene: ENSMUSG00000040147
AA Change: R448S

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,888,629 (GRCm39) E36K possibly damaging Het
Alox8 A T 11: 69,079,516 (GRCm39) S257R probably benign Het
Apc2 T C 10: 80,150,912 (GRCm39) S1960P probably damaging Het
Arhgap35 T C 7: 16,298,192 (GRCm39) N291S probably benign Het
AW551984 A T 9: 39,505,087 (GRCm39) D468E possibly damaging Het
B3gnt6 A C 7: 97,843,730 (GRCm39) F77V probably damaging Het
C1qtnf7 A T 5: 43,766,403 (GRCm39) M1L probably benign Het
Calm3 T C 7: 16,651,409 (GRCm39) T63A probably benign Het
Ccdc33 G A 9: 58,024,919 (GRCm39) probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Cdr2l A G 11: 115,273,192 (GRCm39) E15G probably damaging Het
Chil6 A G 3: 106,296,141 (GRCm39) W365R probably damaging Het
Ckap5 G T 2: 91,431,356 (GRCm39) R1525L probably benign Het
Col6a6 T A 9: 105,663,157 (GRCm39) K127* probably null Het
Dclre1b A G 3: 103,710,639 (GRCm39) V298A probably damaging Het
Fat1 T A 8: 45,479,837 (GRCm39) V2961E probably damaging Het
Fhit T C 14: 9,573,483 (GRCm38) D126G probably benign Het
Gpc1 T C 1: 92,784,736 (GRCm39) F303S probably damaging Het
Hsd17b4 T A 18: 50,324,881 (GRCm39) V698D probably damaging Het
Itpr2 C T 6: 146,277,560 (GRCm39) probably null Het
Klhl4 A T X: 113,432,091 (GRCm39) D168V probably damaging Het
Krt42 A G 11: 100,154,167 (GRCm39) L405P possibly damaging Het
Lrp1 A T 10: 127,417,634 (GRCm39) C85* probably null Het
Lrp2 A G 2: 69,312,611 (GRCm39) L2559P probably damaging Het
Mast3 A G 8: 71,232,227 (GRCm39) V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,846,723 (GRCm39) V286M probably damaging Het
Mlip A G 9: 77,146,699 (GRCm39) I198T possibly damaging Het
Mocs3 T C 2: 168,073,297 (GRCm39) V248A probably damaging Het
Nxf2 T A X: 133,852,861 (GRCm39) R367S probably benign Het
Or10j3b T G 1: 173,043,695 (GRCm39) V159G probably benign Het
Or52z12 T C 7: 103,233,324 (GRCm39) W32R probably damaging Het
Parva T C 7: 112,176,217 (GRCm39) probably benign Het
Pot1a A T 6: 25,750,143 (GRCm39) probably benign Het
Ptpra T C 2: 130,386,359 (GRCm39) I603T probably damaging Het
Rad9a T C 19: 4,251,336 (GRCm39) K33E probably benign Het
Rimbp3 A G 16: 17,028,958 (GRCm39) D794G probably damaging Het
Septin5 G A 16: 18,443,680 (GRCm39) R90C probably damaging Het
Skint8 T A 4: 111,794,103 (GRCm39) N164K probably damaging Het
Slc30a3 T G 5: 31,247,424 (GRCm39) I73L probably benign Het
Stab2 A T 10: 86,815,872 (GRCm39) probably benign Het
Tnc C T 4: 63,918,959 (GRCm39) V1155M probably damaging Het
Ttc13 T G 8: 125,410,024 (GRCm39) Q525P probably damaging Het
Ttn T C 2: 76,550,479 (GRCm39) E31601G probably damaging Het
Unc5a A T 13: 55,150,741 (GRCm39) D577V probably damaging Het
Usp18 G A 6: 121,238,380 (GRCm39) V176M probably benign Het
Vmn1r184 T C 7: 25,966,320 (GRCm39) V22A probably benign Het
Vmn1r33 T A 6: 66,588,865 (GRCm39) I230F probably damaging Het
Vmn1r51 A G 6: 90,106,386 (GRCm39) I101V probably benign Het
Vmn2r108 T A 17: 20,691,282 (GRCm39) M414L probably benign Het
Vmn2r87 A C 10: 130,308,429 (GRCm39) V603G probably benign Het
Wt1 A G 2: 104,963,319 (GRCm39) Y16C probably damaging Het
Wwp2 C T 8: 108,232,977 (GRCm39) T159I probably benign Het
Xirp2 T C 2: 67,344,427 (GRCm39) F2223L probably benign Het
Zan T A 5: 137,387,155 (GRCm39) H4966L unknown Het
Other mutations in Maob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Maob APN X 16,578,881 (GRCm39) missense probably damaging 1.00
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 2013-11-05