Incidental Mutation 'R6608:Man1b1'
ID 526410
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 044731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25222742-25242225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25233263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 212 (V212E)
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: V212E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
AA Change: V212E

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 damaging
Transcript: ENSMUST00000136245
AA Change: V229E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114989
Gene: ENSMUSG00000036646
AA Change: V229E

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 0.9272 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L 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
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
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'- GTCTAACCTGTGCTTTGGCC -3'
(R):5'- CACATGCTGCTTCGGCTTAC -3'

Sequencing Primer
(F):5'- TAACCTGTGCTTTGGCCTCCTG -3'
(R):5'- ACACATGGAAACCCAGTCC -3'
Posted On 2018-06-25