Incidental Mutation 'IGL01338:Man1b1'
ID74701
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 #IGL01338
Quality Score
Status
Chromosome2
Chromosomal Location25332338-25352212 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25338227 bp
ZygosityHeterozygous
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]
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
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Man1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Man1b1 APN 2 25343325 missense possibly damaging 0.53
IGL01934:Man1b1 APN 2 25345511 missense probably benign 0.00
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
Posted On2013-10-07