Incidental Mutation 'IGL02263:Agmo'
ID286813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agmo
Ensembl Gene ENSMUSG00000050103
Gene Namealkylglycerol monooxygenase
SynonymsA530016O06Rik, Tmem195
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02263
Quality Score
Status
Chromosome12
Chromosomal Location37241641-37582202 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37357697 bp
ZygosityHeterozygous
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]
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: 38,535,599 V100A probably damaging Het
Dnah8 A G 17: 30,729,165 I1910V probably benign Het
Dsg2 T A 18: 20,590,020 S368T possibly damaging Het
Eif2ak4 A G 2: 118,461,778 T1270A probably benign Het
Ina T C 19: 47,015,487 S245P probably damaging Het
Katnb1 A G 8: 95,090,075 K96R probably damaging Het
Kcnj4 A G 15: 79,485,787 probably benign Het
Kcnn3 A G 3: 89,661,218 H601R possibly damaging Het
Lrrc25 C A 8: 70,617,822 F84L probably benign Het
Ltb A G 17: 35,196,001 Y259C probably damaging Het
Macc1 T G 12: 119,446,017 N173K possibly damaging Het
Med17 A T 9: 15,267,476 N466K probably damaging Het
Ncoa2 A T 1: 13,174,763 N570K probably damaging Het
Olfr1051 T A 2: 86,276,202 Y95F probably benign Het
Olfr1134 A T 2: 87,656,199 C241S probably damaging Het
Olfr629 A T 7: 103,741,055 F62I probably damaging Het
Plb1 T C 5: 32,321,348 probably benign Het
Ptprk G A 10: 28,075,114 V12I unknown Het
Rabggta G A 14: 55,718,961 probably benign Het
Slc41a2 A G 10: 83,313,500 V193A possibly damaging Het
Thbs1 A G 2: 118,119,880 N665D probably benign Het
Tm9sf1 T C 14: 55,642,935 T2A possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r91 A G 7: 20,101,843 D229G probably benign Het
Vmn2r7 A C 3: 64,691,447 V654G probably damaging Het
Other mutations in Agmo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Agmo APN 12 37357717 missense probably damaging 1.00
IGL01412:Agmo APN 12 37402141 missense possibly damaging 0.49
IGL01682:Agmo APN 12 37357627 splice site probably benign
IGL02478:Agmo APN 12 37401986 missense probably damaging 1.00
IGL02803:Agmo APN 12 37252481 missense probably benign 0.00
R0664:Agmo UTSW 12 37252572 missense probably damaging 1.00
R2158:Agmo UTSW 12 37357710 missense probably damaging 1.00
R3440:Agmo UTSW 12 37243800 missense probably damaging 1.00
R5263:Agmo UTSW 12 37357681 missense probably benign 0.01
R6249:Agmo UTSW 12 37243838 critical splice donor site probably null
R6251:Agmo UTSW 12 37252539 missense probably damaging 1.00
R7513:Agmo UTSW 12 37244353 missense probably benign 0.01
R7686:Agmo UTSW 12 37419974 missense probably benign 0.00
R7729:Agmo UTSW 12 37414975 missense probably benign 0.00
R7731:Agmo UTSW 12 37414940 missense probably benign 0.01
R7849:Agmo UTSW 12 37242045 missense probably benign 0.03
R7852:Agmo UTSW 12 37242052 missense possibly damaging 0.92
R7932:Agmo UTSW 12 37242045 missense probably benign 0.03
R7935:Agmo UTSW 12 37242052 missense possibly damaging 0.92
R8071:Agmo UTSW 12 37398729 missense probably damaging 1.00
R8089:Agmo UTSW 12 37347307 missense probably benign 0.03
Posted On2015-04-16