Incidental Mutation 'IGL01796:Manba'
ID 155349
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01796
Quality Score
Status
Chromosome 3
Chromosomal Location 135191372-135277165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135248150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 346 (N346K)
Ref Sequence ENSEMBL: ENSMUSP00000029814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029814] [ENSMUST00000131610]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029814
AA Change: N346K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: N346K

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: ENSMUST00000123061
Predicted Effect probably benign
Transcript: ENSMUST00000131610
SMART Domains Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 22 163 1.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140893
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably 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
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
R3813:Manba UTSW 3 135,269,023 (GRCm39) missense possibly damaging 0.67
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
Posted On 2014-02-04