Incidental Mutation 'IGL02263:Agmo'
ID 286813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agmo
Ensembl Gene ENSMUSG00000050103
Gene Name alkylglycerol monooxygenase
Synonyms Tmem195, A530016O06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02263
Quality Score
Status
Chromosome 12
Chromosomal Location 37291640-37632201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37407696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 193 (N193K)
Ref Sequence ENSEMBL: ENSMUSP00000125639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049874] [ENSMUST00000159998] [ENSMUST00000160390]
AlphaFold Q8BS35
Predicted Effect probably damaging
Transcript: ENSMUST00000049874
AA Change: N193K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: N193K

DomainStartEndE-ValueType
transmembrane domain 44 61 N/A INTRINSIC
Pfam:FA_hydroxylase 117 249 2.5e-29 PFAM
transmembrane domain 364 383 N/A INTRINSIC
transmembrane domain 411 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159998
AA Change: N193K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: N193K

DomainStartEndE-ValueType
transmembrane domain 44 61 N/A INTRINSIC
Pfam:FA_hydroxylase 117 226 7e-21 PFAM
transmembrane domain 364 383 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160158
Predicted Effect probably damaging
Transcript: ENSMUST00000160390
AA Change: N193K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: N193K

DomainStartEndE-ValueType
transmembrane domain 44 61 N/A INTRINSIC
Pfam:FA_hydroxylase 117 226 7.1e-21 PFAM
transmembrane domain 364 383 N/A INTRINSIC
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 is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,680 (GRCm39) V100A probably damaging Het
Dnah8 A G 17: 30,948,139 (GRCm39) I1910V probably benign Het
Dsg2 T A 18: 20,723,077 (GRCm39) S368T possibly damaging Het
Eif2ak4 A G 2: 118,292,259 (GRCm39) T1270A probably benign Het
Ina T C 19: 47,003,926 (GRCm39) S245P probably damaging Het
Katnb1 A G 8: 95,816,703 (GRCm39) K96R probably damaging Het
Kcnj4 A G 15: 79,369,988 (GRCm39) probably benign Het
Kcnn3 A G 3: 89,568,525 (GRCm39) H601R possibly damaging Het
Lrrc25 C A 8: 71,070,472 (GRCm39) F84L probably benign Het
Ltb A G 17: 35,414,977 (GRCm39) Y259C probably damaging Het
Macc1 T G 12: 119,409,752 (GRCm39) N173K possibly damaging Het
Med17 A T 9: 15,178,772 (GRCm39) N466K probably damaging Het
Ncoa2 A T 1: 13,244,987 (GRCm39) N570K probably damaging Het
Or52ae9 A T 7: 103,390,262 (GRCm39) F62I probably damaging Het
Or5w1 A T 2: 87,486,543 (GRCm39) C241S probably damaging Het
Or8k20 T A 2: 86,106,546 (GRCm39) Y95F probably benign Het
Plb1 T C 5: 32,478,692 (GRCm39) probably benign Het
Ptprk G A 10: 27,951,110 (GRCm39) V12I unknown Het
Rabggta G A 14: 55,956,418 (GRCm39) probably benign Het
Slc41a2 A G 10: 83,149,364 (GRCm39) V193A possibly damaging Het
Thbs1 A G 2: 117,950,361 (GRCm39) N665D probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r91 A G 7: 19,835,768 (GRCm39) D229G probably benign Het
Vmn2r7 A C 3: 64,598,868 (GRCm39) V654G probably damaging Het
Other mutations in Agmo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Agmo APN 12 37,407,716 (GRCm39) missense probably damaging 1.00
IGL01412:Agmo APN 12 37,452,140 (GRCm39) missense possibly damaging 0.49
IGL01682:Agmo APN 12 37,407,626 (GRCm39) splice site probably benign
IGL02478:Agmo APN 12 37,451,985 (GRCm39) missense probably damaging 1.00
IGL02803:Agmo APN 12 37,302,480 (GRCm39) missense probably benign 0.00
R0664:Agmo UTSW 12 37,302,571 (GRCm39) missense probably damaging 1.00
R2158:Agmo UTSW 12 37,407,709 (GRCm39) missense probably damaging 1.00
R3440:Agmo UTSW 12 37,293,799 (GRCm39) missense probably damaging 1.00
R5263:Agmo UTSW 12 37,407,680 (GRCm39) missense probably benign 0.01
R6249:Agmo UTSW 12 37,293,837 (GRCm39) critical splice donor site probably null
R6251:Agmo UTSW 12 37,302,538 (GRCm39) missense probably damaging 1.00
R7513:Agmo UTSW 12 37,294,352 (GRCm39) missense probably benign 0.01
R7686:Agmo UTSW 12 37,469,973 (GRCm39) missense probably benign 0.00
R7729:Agmo UTSW 12 37,464,974 (GRCm39) missense probably benign 0.00
R7731:Agmo UTSW 12 37,464,939 (GRCm39) missense probably benign 0.01
R7849:Agmo UTSW 12 37,292,044 (GRCm39) missense probably benign 0.03
R7852:Agmo UTSW 12 37,292,051 (GRCm39) missense possibly damaging 0.92
R8071:Agmo UTSW 12 37,448,728 (GRCm39) missense probably damaging 1.00
R8089:Agmo UTSW 12 37,397,306 (GRCm39) missense probably benign 0.03
R8511:Agmo UTSW 12 37,294,396 (GRCm39) makesense probably null
R8534:Agmo UTSW 12 37,302,538 (GRCm39) missense probably damaging 1.00
R8712:Agmo UTSW 12 37,407,673 (GRCm39) missense possibly damaging 0.77
R8845:Agmo UTSW 12 37,294,364 (GRCm39) missense probably benign 0.18
R9378:Agmo UTSW 12 37,293,720 (GRCm39) missense probably benign 0.01
R9428:Agmo UTSW 12 37,455,330 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16