Incidental Mutation 'IGL02066:Manea'
ID 185678
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 # IGL02066
Quality Score
Chromosome 4
Chromosomal Location 26324506-26346891 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to T at 26340965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041374] [ENSMUST00000153813]
AlphaFold Q6NXH2
Predicted Effect probably benign
Transcript: ENSMUST00000041374
SMART Domains Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520

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

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., 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,626,854 (GRCm39) C569S probably damaging Het
Adck5 T C 15: 76,479,406 (GRCm39) V487A probably damaging Het
Agfg1 A G 1: 82,871,279 (GRCm39) T483A probably damaging Het
Akr1c12 T C 13: 4,326,236 (GRCm39) T82A probably damaging Het
Ano2 T A 6: 125,667,702 (GRCm39) L6Q probably benign Het
Anp32a G A 9: 62,284,615 (GRCm39) probably benign Het
Bltp2 G A 11: 78,164,058 (GRCm39) R1133H probably damaging Het
Cep250 C A 2: 155,818,441 (GRCm39) A871D probably damaging Het
Chl1 T C 6: 103,675,185 (GRCm39) V624A probably benign Het
Clasp1 G A 1: 118,492,990 (GRCm39) probably null Het
Clca3a2 T G 3: 144,519,216 (GRCm39) D320A probably benign Het
Cnot9 A G 1: 74,566,212 (GRCm39) Q201R possibly damaging Het
Cox4i2 C T 2: 152,602,602 (GRCm39) R99C probably damaging Het
Csmd1 A T 8: 15,976,594 (GRCm39) F2875I probably damaging Het
Dpagt1 A G 9: 44,243,203 (GRCm39) Y246C probably damaging Het
Dsc1 A G 18: 20,241,860 (GRCm39) probably benign Het
Eef1d G A 15: 75,768,704 (GRCm39) T464I probably benign Het
Efna2 C T 10: 80,024,500 (GRCm39) probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Etaa1 C A 11: 17,896,687 (GRCm39) V477L probably benign Het
Fam83d C T 2: 158,627,793 (GRCm39) T494M probably benign Het
Fbxo24 C T 5: 137,611,132 (GRCm39) V553M probably damaging Het
Gal3st2 A G 1: 93,801,379 (GRCm39) T12A probably damaging Het
Gba2 G A 4: 43,570,175 (GRCm39) T373I probably benign Het
Kitl T A 10: 99,912,744 (GRCm39) C154S probably damaging Het
Lrp1b A T 2: 41,001,091 (GRCm39) C2044* probably null Het
Lrp6 G T 6: 134,427,900 (GRCm39) S1564* probably null Het
Myt1 T C 2: 181,438,982 (GRCm39) L168P probably damaging Het
Notch1 T C 2: 26,350,408 (GRCm39) E2244G possibly damaging Het
Nsd3 T G 8: 26,203,515 (GRCm39) V1343G probably damaging Het
Nup155 T C 15: 8,187,250 (GRCm39) probably benign Het
Obox6 T C 7: 15,568,628 (GRCm39) I83V probably benign Het
Or12k5 A T 2: 36,895,321 (GRCm39) F102I probably damaging Het
Or13a24 A T 7: 140,154,413 (GRCm39) T116S possibly damaging Het
Pdgfra T C 5: 75,331,241 (GRCm39) V282A possibly damaging Het
Pkd1l2 A G 8: 117,736,303 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,268,365 (GRCm39) I971F possibly damaging Het
Ppp6c T C 2: 39,089,683 (GRCm39) T199A probably benign Het
Ptpra A G 2: 30,333,308 (GRCm39) T3A possibly damaging Het
Rb1 A T 14: 73,435,974 (GRCm39) M897K probably benign Het
Rptn A C 3: 93,304,436 (GRCm39) S590R probably benign Het
Rreb1 A G 13: 38,115,482 (GRCm39) D947G probably benign Het
Samd9l T C 6: 3,376,575 (GRCm39) T229A probably damaging Het
Slc5a9 A T 4: 111,744,719 (GRCm39) M423K probably damaging Het
Slc6a12 T A 6: 121,329,015 (GRCm39) I111N probably damaging Het
Slc6a15 T A 10: 103,252,519 (GRCm39) L561I probably damaging Het
Spag5 A G 11: 78,195,358 (GRCm39) N222D probably benign Het
Spp2 G A 1: 88,344,965 (GRCm39) M54I probably benign Het
Sptbn4 T C 7: 27,063,940 (GRCm39) E847G possibly damaging Het
Timd2 T A 11: 46,569,050 (GRCm39) N203Y probably damaging Het
Togaram1 G T 12: 65,030,195 (GRCm39) D1000Y probably damaging Het
Usp47 C T 7: 111,663,604 (GRCm39) R258C probably damaging Het
Uts2r A C 11: 121,051,523 (GRCm39) D129A probably damaging Het
Vmn2r102 G A 17: 19,914,191 (GRCm39) M585I probably benign Het
Vmn2r77 A T 7: 86,452,836 (GRCm39) R518* probably null Het
Wdfy4 C T 14: 32,871,523 (GRCm39) R296K probably benign Het
Xirp2 A T 2: 67,356,415 (GRCm39) K3725N probably benign Het
Xntrpc T C 7: 101,727,036 (GRCm39) S142P probably benign Het
Zfat T C 15: 68,052,678 (GRCm39) H372R probably damaging Het
Other mutations in Manea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00685:Manea APN 4 26,340,578 (GRCm39) missense probably damaging 1.00
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 2014-05-07