Incidental Mutation 'R7852:Agmo'
ID 607009
Institutional Source Beutler Lab
Gene Symbol Agmo
Ensembl Gene ENSMUSG00000050103
Gene Name alkylglycerol monooxygenase
Synonyms Tmem195, A530016O06Rik
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 37291640-37632201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37292051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 4 (P4L)
Ref Sequence ENSEMBL: ENSMUSP00000051441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049874] [ENSMUST00000159998] [ENSMUST00000160390] [ENSMUST00000160768]
AlphaFold Q8BS35
Predicted Effect possibly damaging
Transcript: ENSMUST00000049874
AA Change: P4L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: P4L

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 possibly damaging
Transcript: ENSMUST00000159998
AA Change: P4L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: P4L

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 possibly damaging
Transcript: ENSMUST00000160390
AA Change: P4L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: P4L

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
Predicted Effect probably damaging
Transcript: ENSMUST00000160768
AA Change: P4L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124044
Gene: ENSMUSG00000050103
AA Change: P4L

DomainStartEndE-ValueType
transmembrane domain 43 61 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown 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
IGL02263:Agmo APN 12 37,407,696 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAAACTCTGCTGTTGGCTG -3'
(R):5'- GCCAAATTTGCAATGCCACC -3'

Sequencing Primer
(F):5'- GGCTGAGGTCTCTGTGGATC -3'
(R):5'- TGTACCGAAGTTTGATTCACTTG -3'
Posted On 2019-12-20