Incidental Mutation 'IGL01934:Man1b1'
ID180573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man1b1
Ensembl Gene ENSMUSG00000036646
Gene Namemannosidase, alpha, class 1B, member 1
SynonymsLOC227619, E430019H13Rik, MANA-ER
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01934
Quality Score
Status
Chromosome2
Chromosomal Location25332338-25352212 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25345511 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 350 (S350P)
Ref Sequence ENSEMBL: ENSMUSP00000036996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]
Predicted Effect probably benign
Transcript: ENSMUST00000042390
AA Change: S350P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: S350P

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 29 42 N/A INTRINSIC
transmembrane domain 49 71 N/A INTRINSIC
Pfam:Glyco_hydro_47 215 654 9.5e-167 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131826
Predicted Effect probably benign
Transcript: ENSMUST00000136245
SMART Domains Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646

DomainStartEndE-ValueType
transmembrane domain 68 87 N/A INTRINSIC
PDB:1X9D|A 145 238 9e-21 PDB
SCOP:d1fo3a_ 217 237 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149464
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Man1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Man1b1 APN 2 25343325 missense possibly damaging 0.53
IGL01338:Man1b1 APN 2 25338227 missense probably benign 0.01
IGL03063:Man1b1 APN 2 25334404 missense possibly damaging 0.48
IGL03067:Man1b1 APN 2 25349332 missense probably benign
canebrake UTSW 2 25343353 missense probably damaging 1.00
sugarcane UTSW 2 25343251 missense probably damaging 1.00
PIT4520001:Man1b1 UTSW 2 25343270 missense probably damaging 1.00
R0731:Man1b1 UTSW 2 25338155 missense possibly damaging 0.87
R1716:Man1b1 UTSW 2 25345020 missense probably benign 0.14
R4470:Man1b1 UTSW 2 25332855 intron probably benign
R4472:Man1b1 UTSW 2 25332855 intron probably benign
R4838:Man1b1 UTSW 2 25345475 missense possibly damaging 0.79
R4953:Man1b1 UTSW 2 25338184 missense probably damaging 0.99
R5162:Man1b1 UTSW 2 25343353 missense probably damaging 1.00
R5861:Man1b1 UTSW 2 25348054 missense probably benign 0.01
R6608:Man1b1 UTSW 2 25343251 missense probably damaging 1.00
R7098:Man1b1 UTSW 2 25338184 missense probably damaging 0.99
R7215:Man1b1 UTSW 2 25350390 missense probably benign 0.00
Z1176:Man1b1 UTSW 2 25344983 missense possibly damaging 0.69
Posted On2014-05-07