Incidental Mutation 'IGL01682:Agmo'
ID103849
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: 0.087) question?
Stock #IGL01682
Quality Score
Status
Chromosome12
Chromosomal Location37241641-37582202 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 37357627 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049874] [ENSMUST00000159998] [ENSMUST00000160390]
Predicted Effect probably benign
Transcript: ENSMUST00000049874
SMART Domains Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103

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 benign
Transcript: ENSMUST00000159998
SMART Domains Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103

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 benign
Transcript: ENSMUST00000160390
SMART Domains Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
C2cd6 T G 1: 59,062,501 Y333S probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Gramd2 A G 9: 59,712,110 I61M possibly damaging Het
Hcar2 T C 5: 123,864,519 N307S probably benign Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pip4k2a A G 2: 18,997,968 S10P probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rprd1b T C 2: 158,050,160 I201T probably damaging Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly 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
IGL02263:Agmo APN 12 37357697 missense probably damaging 1.00
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
Posted On2014-01-21