Incidental Mutation 'IGL02527:Manea'
List |< first << previous [record 28 of 50] next >> last >|
ID297172
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: 0.071) question?
Stock #IGL02527
Quality Score
Status
Chromosome4
Chromosomal Location26324506-26346891 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 26336619 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041374] [ENSMUST00000153813]
Predicted Effect probably null
Transcript: ENSMUST00000041374
SMART Domains Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140492
Predicted Effect probably benign
Transcript: ENSMUST00000153813
SMART Domains Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520

DomainStartEndE-ValueType
transmembrane domain 9 31 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.] 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M 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
IGL02727:Manea APN 4 26328126 missense probably damaging 1.00
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