Incidental Mutation 'IGL00685:Manea'
ID 11890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Manea
Ensembl Gene ENSMUSG00000040520
Gene Name mannosidase, endo-alpha
Synonyms 4932703L02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL00685
Quality Score
Status
Chromosome 4
Chromosomal Location 26324506-26346891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26340578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 128 (L128P)
Ref Sequence ENSEMBL: ENSMUSP00000038671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041374] [ENSMUST00000153813]
AlphaFold Q6NXH2
Predicted Effect probably damaging
Transcript: ENSMUST00000041374
AA Change: L128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: L128P

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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Foxn2 T C 17: 88,770,305 (GRCm39) S51P probably benign Het
Fra10ac1 T A 19: 38,190,012 (GRCm39) K217N probably damaging Het
Klra9 T A 6: 130,159,369 (GRCm39) I215F probably damaging Het
Odf2l A T 3: 144,833,634 (GRCm39) N138Y possibly damaging Het
Tas2r102 A G 6: 132,739,488 (GRCm39) N132S possibly damaging Het
Other mutations in Manea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Manea APN 4 26,340,965 (GRCm39) utr 5 prime probably benign
IGL02195:Manea APN 4 26,340,628 (GRCm39) nonsense probably null
IGL02527:Manea APN 4 26,336,619 (GRCm39) critical splice donor site probably null
IGL02727:Manea APN 4 26,328,127 (GRCm39) nonsense probably null
IGL02727:Manea APN 4 26,328,126 (GRCm39) missense probably damaging 1.00
R0099:Manea UTSW 4 26,328,104 (GRCm39) missense probably damaging 1.00
R0103:Manea UTSW 4 26,329,080 (GRCm39) splice site probably null
R0144:Manea UTSW 4 26,340,719 (GRCm39) missense probably benign 0.00
R0839:Manea UTSW 4 26,327,983 (GRCm39) missense probably damaging 1.00
R1998:Manea UTSW 4 26,327,871 (GRCm39) missense probably damaging 1.00
R1999:Manea UTSW 4 26,327,871 (GRCm39) missense probably damaging 1.00
R5022:Manea UTSW 4 26,336,630 (GRCm39) nonsense probably null
R6621:Manea UTSW 4 26,340,363 (GRCm39) splice site probably null
R7113:Manea UTSW 4 26,336,718 (GRCm39) missense probably damaging 1.00
R7436:Manea UTSW 4 26,328,228 (GRCm39) missense probably damaging 1.00
R7553:Manea UTSW 4 26,327,986 (GRCm39) missense probably damaging 1.00
R7649:Manea UTSW 4 26,328,234 (GRCm39) missense probably damaging 1.00
R7680:Manea UTSW 4 26,340,649 (GRCm39) missense probably damaging 1.00
R7690:Manea UTSW 4 26,327,910 (GRCm39) missense probably benign 0.41
R7698:Manea UTSW 4 26,327,763 (GRCm39) missense probably damaging 1.00
R7699:Manea UTSW 4 26,340,758 (GRCm39) missense probably benign 0.03
R9568:Manea UTSW 4 26,340,468 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06