Incidental Mutation 'R4470:Man1b1'
ID 329354
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 041727-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4470 (G1)
Quality Score 185
Status Validated
Chromosome 2
Chromosomal Location 25222742-25242225 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to G at 25222867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042390] [ENSMUST00000136245]
AlphaFold A2AJ15
Predicted Effect probably benign
Transcript: ENSMUST00000042390
SMART Domains Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646

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 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: ENSMUST00000152245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180841
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Myzap A G 9: 71,499,563 (GRCm39) probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or4d6 T C 19: 12,086,547 (GRCm39) probably null Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tbx4 A G 11: 85,802,948 (GRCm39) I275V probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G 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
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
Predicted Primers PCR Primer
(F):5'- ATACCAGCACAAGGGTGTAC -3'
(R):5'- TTCTGGACGCTGGAAGAGAC -3'

Sequencing Primer
(F):5'- AGGCGCGGTGCTTAGACTAG -3'
(R):5'- CGAACGCTCCAGCTAGGTACTTC -3'
Posted On 2015-07-21