Incidental Mutation 'IGL01338:Man1b1'
ID 74701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man1b1
Ensembl Gene ENSMUSG00000036646
Gene Name mannosidase, alpha, class 1B, member 1
Synonyms E430019H13Rik, LOC227619, MANA-ER
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01338
Quality Score
Status
Chromosome 2
Chromosomal Location 25222742-25242225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25228239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 170 (K170E)
Ref Sequence ENSEMBL: ENSMUSP00000114989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]
AlphaFold A2AJ15
Predicted Effect probably benign
Transcript: ENSMUST00000042390
AA Change: K153E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: K153E

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: ENSMUST00000131826
Predicted Effect probably benign
Transcript: ENSMUST00000136245
AA Change: K170E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646
AA Change: K170E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157546
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Dus1l G A 11: 120,683,918 (GRCm39) R177C possibly damaging Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Gpd1 T A 15: 99,616,056 (GRCm39) V22E probably damaging Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Or10al6 A T 17: 38,082,730 (GRCm39) H71L possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tm2d3 T A 7: 65,344,970 (GRCm39) C82* probably null Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Man1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Man1b1 APN 2 25,233,337 (GRCm39) missense possibly damaging 0.53
IGL01934:Man1b1 APN 2 25,235,523 (GRCm39) missense probably benign 0.00
IGL03063:Man1b1 APN 2 25,224,416 (GRCm39) missense possibly damaging 0.48
IGL03067:Man1b1 APN 2 25,239,344 (GRCm39) missense probably benign
canebrake UTSW 2 25,233,365 (GRCm39) missense probably damaging 1.00
sugarcane UTSW 2 25,233,263 (GRCm39) missense probably damaging 1.00
PIT4520001:Man1b1 UTSW 2 25,233,282 (GRCm39) missense probably damaging 1.00
R0731:Man1b1 UTSW 2 25,228,167 (GRCm39) missense possibly damaging 0.87
R1716:Man1b1 UTSW 2 25,235,032 (GRCm39) missense probably benign 0.14
R4470:Man1b1 UTSW 2 25,222,867 (GRCm39) intron probably benign
R4472:Man1b1 UTSW 2 25,222,867 (GRCm39) intron probably benign
R4838:Man1b1 UTSW 2 25,235,487 (GRCm39) missense possibly damaging 0.79
R4953:Man1b1 UTSW 2 25,228,196 (GRCm39) missense probably damaging 0.99
R5162:Man1b1 UTSW 2 25,233,365 (GRCm39) missense probably damaging 1.00
R5861:Man1b1 UTSW 2 25,238,066 (GRCm39) missense probably benign 0.01
R6608:Man1b1 UTSW 2 25,233,263 (GRCm39) missense probably damaging 1.00
R7098:Man1b1 UTSW 2 25,228,196 (GRCm39) missense probably damaging 0.99
R7215:Man1b1 UTSW 2 25,240,402 (GRCm39) missense probably benign 0.00
Z1176:Man1b1 UTSW 2 25,234,995 (GRCm39) missense possibly damaging 0.69
Posted On 2013-10-07