Incidental Mutation 'R3813:Manba'
ID 274137
Institutional Source Beutler Lab
Gene Symbol Manba
Ensembl Gene ENSMUSG00000028164
Gene Name mannosidase, beta A, lysosomal
Synonyms B930014J03Rik, Bmn, 2410030O07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R3813 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 135191372-135277165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135269023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 643 (E643K)
Ref Sequence ENSEMBL: ENSMUSP00000029814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029814]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029814
AA Change: E643K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: E643K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 42 211 6.5e-11 PFAM
Pfam:Glyco_hydro_2_C 340 595 3.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153412
Meta Mutation Damage Score 0.1724 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,825,785 (GRCm39) D1018G possibly damaging Het
Adgrg1 T A 8: 95,738,193 (GRCm39) L562Q probably benign Het
Ankrd11 T C 8: 123,618,117 (GRCm39) T1891A probably benign Het
Arid2 A G 15: 96,267,831 (GRCm39) N648S probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cacna1s A T 1: 136,013,085 (GRCm39) I312F probably damaging Het
Cenpj A G 14: 56,790,679 (GRCm39) S457P probably benign Het
Cep120 G A 18: 53,873,284 (GRCm39) probably benign Het
Cfap70 T A 14: 20,471,190 (GRCm39) I493L possibly damaging Het
Cfap97d1 A T 11: 101,882,314 (GRCm39) R106S probably benign Het
Csmd3 T C 15: 48,655,209 (GRCm39) D31G possibly damaging Het
Cstf3 T C 2: 104,439,466 (GRCm39) Y54H probably damaging Het
Cubn T A 2: 13,299,136 (GRCm39) Y3179F probably damaging Het
Cyp2s1 C T 7: 25,505,291 (GRCm39) probably null Het
Dll4 C A 2: 119,161,510 (GRCm39) T364N possibly damaging Het
Doc2g C T 19: 4,054,466 (GRCm39) probably null Het
Etl4 A G 2: 20,793,246 (GRCm39) E657G probably damaging Het
Fhdc1 A G 3: 84,371,577 (GRCm39) probably null Het
Fndc1 T C 17: 7,992,154 (GRCm39) H514R unknown Het
Gpat3 A G 5: 101,039,505 (GRCm39) probably benign Het
H2-Q4 A G 17: 35,602,071 (GRCm39) H311R possibly damaging Het
Hipk4 T C 7: 27,223,372 (GRCm39) L144S probably damaging Het
Hspa4 G A 11: 53,161,806 (GRCm39) P449S probably benign Het
Kif7 A G 7: 79,363,638 (GRCm39) V90A probably damaging Het
Klhl38 T C 15: 58,185,953 (GRCm39) I259V probably benign Het
Krt9 T A 11: 100,080,503 (GRCm39) E414D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrriq1 T C 10: 103,051,972 (GRCm39) E260G probably damaging Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Mc3r T A 2: 172,090,799 (GRCm39) L7Q probably benign Het
Mdga1 G A 17: 30,057,453 (GRCm39) P788S probably damaging Het
Or5d35 T C 2: 87,855,105 (GRCm39) F13S probably damaging Het
Or6c70 T A 10: 129,709,855 (GRCm39) Y257F probably damaging Het
Pcdh12 G A 18: 38,416,667 (GRCm39) R153* probably null Het
Plk3 T C 4: 116,990,647 (GRCm39) Y89C probably damaging Het
Prss41 G A 17: 24,056,596 (GRCm39) R160* probably null Het
Rae1 T A 2: 172,848,666 (GRCm39) probably benign Het
Rbm17 T A 2: 11,600,246 (GRCm39) probably benign Het
Recql4 A T 15: 76,588,694 (GRCm39) M1039K possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slit3 A G 11: 35,566,806 (GRCm39) Y1026C probably damaging Het
Tbl2 T A 5: 135,185,375 (GRCm39) probably null Het
Tex2 G A 11: 106,402,770 (GRCm39) T1034I unknown Het
Tmem241 A T 18: 12,200,167 (GRCm39) probably benign Het
Tmtc1 T C 6: 148,256,389 (GRCm39) probably benign Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Trmt1 T A 8: 85,421,846 (GRCm39) probably benign Het
Vps37d G A 5: 135,103,304 (GRCm39) Q113* probably null Het
Zup1 T C 10: 33,816,218 (GRCm39) E242G possibly damaging Het
Other mutations in Manba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Manba APN 3 135,260,541 (GRCm39) nonsense probably null
IGL01443:Manba APN 3 135,250,589 (GRCm39) missense probably damaging 1.00
IGL01796:Manba APN 3 135,248,150 (GRCm39) missense probably damaging 1.00
IGL02396:Manba APN 3 135,250,525 (GRCm39) missense probably damaging 1.00
IGL02471:Manba APN 3 135,212,769 (GRCm39) splice site probably benign
IGL02809:Manba APN 3 135,253,321 (GRCm39) missense probably damaging 1.00
IGL02861:Manba APN 3 135,276,024 (GRCm39) missense probably benign 0.03
IGL02934:Manba APN 3 135,250,510 (GRCm39) missense probably benign 0.00
IGL03130:Manba APN 3 135,256,920 (GRCm39) missense probably damaging 1.00
IGL03237:Manba APN 3 135,250,512 (GRCm39) missense probably damaging 1.00
IGL03342:Manba APN 3 135,223,748 (GRCm39) missense possibly damaging 0.51
R0551:Manba UTSW 3 135,223,734 (GRCm39) missense probably damaging 0.98
R1549:Manba UTSW 3 135,250,567 (GRCm39) missense probably damaging 1.00
R1752:Manba UTSW 3 135,212,706 (GRCm39) missense probably damaging 1.00
R1932:Manba UTSW 3 135,250,501 (GRCm39) missense probably benign 0.01
R1991:Manba UTSW 3 135,256,952 (GRCm39) missense probably benign 0.05
R3729:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R3731:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R4712:Manba UTSW 3 135,250,575 (GRCm39) missense probably damaging 1.00
R5001:Manba UTSW 3 135,273,391 (GRCm39) missense probably benign 0.00
R5481:Manba UTSW 3 135,230,317 (GRCm39) missense possibly damaging 0.86
R5889:Manba UTSW 3 135,230,359 (GRCm39) nonsense probably null
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6434:Manba UTSW 3 135,217,734 (GRCm39) splice site probably null
R6760:Manba UTSW 3 135,248,212 (GRCm39) missense probably damaging 0.98
R7164:Manba UTSW 3 135,248,149 (GRCm39) missense probably damaging 1.00
R7182:Manba UTSW 3 135,273,274 (GRCm39) missense probably benign 0.06
R7184:Manba UTSW 3 135,228,915 (GRCm39) missense possibly damaging 0.62
R7212:Manba UTSW 3 135,273,396 (GRCm39) missense probably benign
R7266:Manba UTSW 3 135,223,673 (GRCm39) missense probably damaging 1.00
R7271:Manba UTSW 3 135,248,137 (GRCm39) missense probably damaging 1.00
R7466:Manba UTSW 3 135,248,154 (GRCm39) missense probably benign 0.13
R7467:Manba UTSW 3 135,250,562 (GRCm39) missense probably damaging 1.00
R7542:Manba UTSW 3 135,272,354 (GRCm39) missense probably benign 0.10
R7546:Manba UTSW 3 135,276,007 (GRCm39) missense probably benign 0.01
R7726:Manba UTSW 3 135,223,770 (GRCm39) missense probably benign 0.14
R8475:Manba UTSW 3 135,217,573 (GRCm39) missense probably benign 0.13
R8768:Manba UTSW 3 135,256,995 (GRCm39) missense probably damaging 1.00
R8856:Manba UTSW 3 135,223,764 (GRCm39) missense probably damaging 0.98
R9140:Manba UTSW 3 135,191,490 (GRCm39) missense probably benign
R9449:Manba UTSW 3 135,255,079 (GRCm39) missense probably benign 0.01
Z1176:Manba UTSW 3 135,269,035 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTAGCCTTAATCAATGCAAGTCC -3'
(R):5'- TCTCCTTGCGGTAATCTGAC -3'

Sequencing Primer
(F):5'- GCAAGTCCAACACTCTAGTTTATC -3'
(R):5'- GACTCTTCAGGCTCTGCG -3'
Posted On 2015-04-02