Incidental Mutation 'R5162:Man1b1'
ID 397032
Institutional Source Beutler Lab
Gene Symbol Man1b1
Ensembl Gene ENSMUSG00000036646
Gene Name mannosidase, alpha, class 1B, member 1
Synonyms E430019H13Rik, LOC227619, MANA-ER
MMRRC Submission 042744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5162 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25222742-25242225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25233365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 246 (L246Q)
Ref Sequence ENSEMBL: ENSMUSP00000036996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]
AlphaFold A2AJ15
Predicted Effect probably damaging
Transcript: ENSMUST00000042390
AA Change: L246Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: L246Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157546
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,301 (GRCm39) T229S probably benign Het
Adrb3 T C 8: 27,717,348 (GRCm39) E367G probably benign Het
Ak9 T A 10: 41,233,653 (GRCm39) N630K probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cry1 T A 10: 84,969,150 (GRCm39) H558L probably benign Het
Cstdc3 A T 16: 36,132,918 (GRCm39) H65L probably damaging Het
Cyp3a57 T A 5: 145,305,893 (GRCm39) W126R probably damaging Het
Dhx36 A T 3: 62,401,201 (GRCm39) V355E probably damaging Het
Dpp6 A G 5: 27,604,013 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 T C 15: 54,710,692 (GRCm39) D694G probably benign Het
Esrp2 T C 8: 106,859,930 (GRCm39) E336G probably damaging Het
Faah A T 4: 115,857,938 (GRCm39) probably benign Het
Fat1 G A 8: 45,478,846 (GRCm39) G2608R probably benign Het
Fbxo8 A T 8: 57,022,354 (GRCm39) Y122F probably damaging Het
Fgd5 A G 6: 92,051,215 (GRCm39) D1497G probably damaging Het
Fn3krp T C 11: 121,320,410 (GRCm39) F252L probably damaging Het
Fnip2 T C 3: 79,389,084 (GRCm39) Y549C probably damaging Het
Gcm2 T C 13: 41,257,131 (GRCm39) N206S probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
H2-T10 T A 17: 36,429,843 (GRCm39) probably null Het
Henmt1 T C 3: 108,847,366 (GRCm39) probably null Het
Mdh2 T C 5: 135,812,329 (GRCm39) probably null Het
Mocos T C 18: 24,787,109 (GRCm39) F43L probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Naip5 T A 13: 100,359,914 (GRCm39) I441F possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nars2 T C 7: 96,709,027 (GRCm39) probably benign Het
Ncoa2 A T 1: 13,245,396 (GRCm39) M434K possibly damaging Het
Nlrp4g T A 9: 124,350,394 (GRCm38) noncoding transcript Het
Or14j8 T A 17: 38,263,255 (GRCm39) Q220L probably benign Het
Or9a2 G T 6: 41,748,706 (GRCm39) H176N possibly damaging Het
Pals2 T A 6: 50,155,495 (GRCm39) W259R probably damaging Het
Pars2 A G 4: 106,511,735 (GRCm39) T506A probably benign Het
Pkp2 T C 16: 16,078,200 (GRCm39) S481P probably damaging Het
Plod3 T C 5: 137,020,161 (GRCm39) W459R probably damaging Het
Pramel13 A T 4: 144,121,482 (GRCm39) L181M probably damaging Het
Prdm10 A T 9: 31,251,714 (GRCm39) I361F possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Raver2 T C 4: 100,959,921 (GRCm39) C134R probably damaging Het
Rnf130 G C 11: 49,943,722 (GRCm39) A123P probably damaging Het
Slc29a4 G A 5: 142,707,207 (GRCm39) A517T possibly damaging Het
Slc38a6 T A 12: 73,376,759 (GRCm39) S138T possibly damaging Het
Spred1 T C 2: 117,008,102 (GRCm39) V336A possibly damaging Het
Sptlc3 T A 2: 139,473,263 (GRCm39) M504K probably benign Het
Syt11 T C 3: 88,655,149 (GRCm39) D78G probably damaging Het
Trim23 C T 13: 104,317,682 (GRCm39) T61I probably damaging Het
Tsg101 T C 7: 46,542,174 (GRCm39) T260A probably damaging Het
Tyw5 T C 1: 57,440,618 (GRCm39) Y48C probably damaging Het
Utp25 G T 1: 192,796,089 (GRCm39) T192K probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vmn2r89 C A 14: 51,693,620 (GRCm39) H323Q possibly damaging Het
Vps18 A G 2: 119,123,423 (GRCm39) S117G probably benign Het
Zfp93 C G 7: 23,975,757 (GRCm39) Q581E probably damaging Het
Other mutations in Man1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Man1b1 APN 2 25,233,337 (GRCm39) missense possibly damaging 0.53
IGL01338:Man1b1 APN 2 25,228,239 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- AGTGGGACTGTTCTTGCCAC -3'
(R):5'- CTAGATGAGAAACAGGCCCTG -3'

Sequencing Primer
(F):5'- GGACTGTTCTTGCCACTCATATTTTC -3'
(R):5'- AGCACACATTTTCCCATATCTAGG -3'
Posted On 2016-06-21