Incidental Mutation 'IGL02727:Manea'
ID305270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Manea
Ensembl Gene ENSMUSG00000040520
Gene Namemannosidase, endo-alpha
Synonyms4932703L02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02727
Quality Score
Status
Chromosome4
Chromosomal Location26324506-26346891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26328126 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 305 (E305V)
Ref Sequence ENSEMBL: ENSMUSP00000038671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041374]
Predicted Effect probably damaging
Transcript: ENSMUST00000041374
AA Change: E305V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: E305V

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_hydro_99 98 448 3.2e-192 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133105
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Manea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00685:Manea APN 4 26340578 missense probably damaging 1.00
IGL02066:Manea APN 4 26340965 utr 5 prime probably benign
IGL02195:Manea APN 4 26340628 nonsense probably null
IGL02527:Manea APN 4 26336619 critical splice donor site probably null
IGL02727:Manea APN 4 26328127 nonsense probably null
R0099:Manea UTSW 4 26328104 missense probably damaging 1.00
R0103:Manea UTSW 4 26329080 splice site probably null
R0144:Manea UTSW 4 26340719 missense probably benign 0.00
R0839:Manea UTSW 4 26327983 missense probably damaging 1.00
R1998:Manea UTSW 4 26327871 missense probably damaging 1.00
R1999:Manea UTSW 4 26327871 missense probably damaging 1.00
R5022:Manea UTSW 4 26336630 nonsense probably null
R6621:Manea UTSW 4 26340363 unclassified probably null
R7113:Manea UTSW 4 26336718 missense probably damaging 1.00
R7436:Manea UTSW 4 26328228 missense probably damaging 1.00
R7553:Manea UTSW 4 26327986 missense probably damaging 1.00
R7649:Manea UTSW 4 26328234 missense probably damaging 1.00
R7680:Manea UTSW 4 26340649 missense probably damaging 1.00
R7690:Manea UTSW 4 26327910 missense probably benign 0.41
R7698:Manea UTSW 4 26327763 missense probably damaging 1.00
Posted On2015-04-16