Incidental Mutation 'IGL00234:Glb1l3'
ID306862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glb1l3
Ensembl Gene ENSMUSG00000031966
Gene Namegalactosidase, beta 1 like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00234
Quality Score
Status
Chromosome9
Chromosomal Location26817953-26860890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26853671 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 148 (L148H)
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
Predicted Effect probably damaging
Transcript: ENSMUST00000034448
AA Change: L72H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: L72H

DomainStartEndE-ValueType
Pfam:Glyco_hydro_35 1 304 1.5e-110 PFAM
Pfam:Glyco_hydro_42 7 160 6.2e-11 PFAM
low complexity region 309 318 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210274
AA Change: L148H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 33,781,268 N42S probably damaging Het
Apoc4 A T 7: 19,678,740 S27T probably benign Het
Atp13a3 T A 16: 30,351,279 Q363L probably damaging Het
Cfap69 A G 5: 5,617,295 Y417H probably benign Het
Cry1 A G 10: 85,146,834 S243P probably benign Het
Epb41l2 A G 10: 25,501,836 T116A probably damaging Het
Foxb1 A G 9: 69,760,198 S17P probably damaging Het
Hnrnpk T C 13: 58,395,297 probably benign Het
Icam5 G A 9: 21,036,795 probably null Het
Lats1 A G 10: 7,691,566 I34V probably damaging Het
Lipc A T 9: 70,820,437 Y43N possibly damaging Het
Maml3 A G 3: 51,690,704 I207T probably benign Het
Nfatc2 A T 2: 168,504,890 S761R probably damaging Het
Nubp1 G A 16: 10,422,839 G280S probably damaging Het
Olfr463 T G 11: 87,893,365 R186S possibly damaging Het
Pabpc4 A G 4: 123,286,704 N73S probably damaging Het
Pcsk6 G A 7: 65,927,820 C163Y probably damaging Het
Phf3 G A 1: 30,811,847 T1142M probably damaging Het
Prune2 T A 19: 17,168,344 probably null Het
Psmd7 A G 8: 107,585,710 V85A probably damaging Het
Rc3h2 A G 2: 37,389,747 V490A possibly damaging Het
Sh3tc1 A C 5: 35,710,957 S388A probably damaging Het
Trank1 T C 9: 111,392,609 F2805L probably damaging Het
Yars2 T C 16: 16,303,321 L113P probably damaging Het
Zfp82 G A 7: 30,066,330 S16L probably damaging Het
Other mutations in Glb1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Glb1l3 APN 9 26829050 missense probably damaging 1.00
IGL01139:Glb1l3 APN 9 26818227 missense probably benign 0.00
IGL01397:Glb1l3 APN 9 26825195 missense probably benign
IGL01603:Glb1l3 APN 9 26859536 missense probably damaging 1.00
IGL01938:Glb1l3 APN 9 26818529 missense probably damaging 0.98
IGL02051:Glb1l3 APN 9 26825168 missense probably benign 0.39
IGL02105:Glb1l3 APN 9 26818527 missense probably damaging 0.99
IGL02132:Glb1l3 APN 9 26825170 missense probably benign 0.07
IGL02249:Glb1l3 APN 9 26831268 missense possibly damaging 0.60
IGL02363:Glb1l3 APN 9 26853644 missense probably damaging 1.00
IGL02824:Glb1l3 APN 9 26850109 missense probably damaging 1.00
IGL02938:Glb1l3 APN 9 26826759 missense probably benign 0.26
IGL03181:Glb1l3 APN 9 26828363 splice site probably null
IGL03288:Glb1l3 APN 9 26818305 missense probably damaging 0.99
IGL03299:Glb1l3 APN 9 26859452 missense probably damaging 1.00
R0479:Glb1l3 UTSW 9 26829093 missense probably benign 0.31
R4036:Glb1l3 UTSW 9 26829047 missense probably damaging 1.00
R4037:Glb1l3 UTSW 9 26829047 missense probably damaging 1.00
R4038:Glb1l3 UTSW 9 26829047 missense probably damaging 1.00
R4039:Glb1l3 UTSW 9 26829047 missense probably damaging 1.00
R4797:Glb1l3 UTSW 9 26828446 missense probably damaging 0.96
R4840:Glb1l3 UTSW 9 26829053 missense probably benign 0.06
R5645:Glb1l3 UTSW 9 26824826 missense probably benign
R5907:Glb1l3 UTSW 9 26826383 missense probably damaging 1.00
R5916:Glb1l3 UTSW 9 26854736 missense probably benign 0.20
R6428:Glb1l3 UTSW 9 26859452 missense probably damaging 1.00
R6489:Glb1l3 UTSW 9 26826831 missense probably benign 0.31
R6532:Glb1l3 UTSW 9 26818442 missense probably benign 0.02
R6560:Glb1l3 UTSW 9 26828424 synonymous probably null
R6653:Glb1l3 UTSW 9 26859588 missense probably benign 0.09
R6802:Glb1l3 UTSW 9 26859352 intron probably null
R7347:Glb1l3 UTSW 9 26829003 missense probably benign
R7531:Glb1l3 UTSW 9 26853654 missense possibly damaging 0.62
R7542:Glb1l3 UTSW 9 26818195 missense possibly damaging 0.70
Posted On2015-04-16