Incidental Mutation 'IGL02363:Glb1l3'
ID 290613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glb1l3
Ensembl Gene ENSMUSG00000031966
Gene Name galactosidase, beta 1 like 3
Synonyms 4921509F24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02363
Quality Score
Status
Chromosome 9
Chromosomal Location 26729249-26772186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26764940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 157 (E157G)
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034448
AA Change: E81G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: E81G

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: E157G

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 T C 2: 28,702,910 (GRCm39) S425P probably damaging Het
Comt T C 16: 18,229,881 (GRCm39) D153G probably benign Het
Cplane1 A T 15: 8,247,921 (GRCm39) H1490L possibly damaging Het
Exoc6 T C 19: 37,597,402 (GRCm39) I601T probably damaging Het
F11 A T 8: 45,694,568 (GRCm39) C598S probably damaging Het
Galnt13 G T 2: 55,002,872 (GRCm39) D524Y probably damaging Het
Hc T C 2: 34,890,847 (GRCm39) H1323R probably benign Het
Hsd3b5 T C 3: 98,537,421 (GRCm39) I32V probably benign Het
Il6ra A G 3: 89,778,560 (GRCm39) S430P probably benign Het
Lama2 G T 10: 27,242,062 (GRCm39) T298K probably damaging Het
Nedd4l T C 18: 65,341,116 (GRCm39) probably benign Het
Ntrk3 T C 7: 78,103,085 (GRCm39) D405G probably benign Het
Opn5 T C 17: 42,868,382 (GRCm39) D371G probably benign Het
Pcdh15 G T 10: 74,152,918 (GRCm39) A408S probably damaging Het
Pim3 T C 15: 88,747,116 (GRCm39) V54A probably benign Het
Prdm5 T C 6: 65,771,303 (GRCm39) F38S probably damaging Het
Ptgs2 C T 1: 149,981,460 (GRCm39) probably null Het
Rnf185 A G 11: 3,368,015 (GRCm39) I221T possibly damaging Het
Slc27a2 T C 2: 126,420,870 (GRCm39) F318L possibly damaging Het
Spata1 T C 3: 146,193,119 (GRCm39) Y124C possibly damaging Het
Tmie G T 9: 110,699,821 (GRCm39) probably benign Het
Tph2 T C 10: 114,915,886 (GRCm39) K429R probably benign Het
Usp32 A G 11: 84,935,613 (GRCm39) Y388H probably benign Het
Vmn2r60 A T 7: 41,844,578 (GRCm39) Q647L probably benign Het
Other mutations in Glb1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Glb1l3 APN 9 26,764,967 (GRCm39) missense probably damaging 1.00
IGL00537:Glb1l3 APN 9 26,740,346 (GRCm39) missense probably damaging 1.00
IGL01139:Glb1l3 APN 9 26,729,523 (GRCm39) missense probably benign 0.00
IGL01397:Glb1l3 APN 9 26,736,491 (GRCm39) missense probably benign
IGL01603:Glb1l3 APN 9 26,770,832 (GRCm39) missense probably damaging 1.00
IGL01938:Glb1l3 APN 9 26,729,825 (GRCm39) missense probably damaging 0.98
IGL02051:Glb1l3 APN 9 26,736,464 (GRCm39) missense probably benign 0.39
IGL02105:Glb1l3 APN 9 26,729,823 (GRCm39) missense probably damaging 0.99
IGL02132:Glb1l3 APN 9 26,736,466 (GRCm39) missense probably benign 0.07
IGL02249:Glb1l3 APN 9 26,742,564 (GRCm39) missense possibly damaging 0.60
IGL02824:Glb1l3 APN 9 26,761,405 (GRCm39) missense probably damaging 1.00
IGL02938:Glb1l3 APN 9 26,738,055 (GRCm39) missense probably benign 0.26
IGL03181:Glb1l3 APN 9 26,739,659 (GRCm39) splice site probably null
IGL03288:Glb1l3 APN 9 26,729,601 (GRCm39) missense probably damaging 0.99
IGL03299:Glb1l3 APN 9 26,770,748 (GRCm39) missense probably damaging 1.00
R0479:Glb1l3 UTSW 9 26,740,389 (GRCm39) missense probably benign 0.31
R4036:Glb1l3 UTSW 9 26,740,343 (GRCm39) missense probably damaging 1.00
R4037:Glb1l3 UTSW 9 26,740,343 (GRCm39) missense probably damaging 1.00
R4038:Glb1l3 UTSW 9 26,740,343 (GRCm39) missense probably damaging 1.00
R4039:Glb1l3 UTSW 9 26,740,343 (GRCm39) missense probably damaging 1.00
R4797:Glb1l3 UTSW 9 26,739,742 (GRCm39) missense probably damaging 0.96
R4840:Glb1l3 UTSW 9 26,740,349 (GRCm39) missense probably benign 0.06
R5645:Glb1l3 UTSW 9 26,736,122 (GRCm39) missense probably benign
R5907:Glb1l3 UTSW 9 26,737,679 (GRCm39) missense probably damaging 1.00
R5916:Glb1l3 UTSW 9 26,766,032 (GRCm39) missense probably benign 0.20
R6428:Glb1l3 UTSW 9 26,770,748 (GRCm39) missense probably damaging 1.00
R6489:Glb1l3 UTSW 9 26,738,127 (GRCm39) missense probably benign 0.31
R6532:Glb1l3 UTSW 9 26,729,738 (GRCm39) missense probably benign 0.02
R6560:Glb1l3 UTSW 9 26,739,720 (GRCm39) splice site probably null
R6653:Glb1l3 UTSW 9 26,770,884 (GRCm39) missense probably benign 0.09
R6802:Glb1l3 UTSW 9 26,770,648 (GRCm39) splice site probably null
R7347:Glb1l3 UTSW 9 26,740,299 (GRCm39) missense probably benign
R7531:Glb1l3 UTSW 9 26,764,950 (GRCm39) missense possibly damaging 0.62
R7542:Glb1l3 UTSW 9 26,729,491 (GRCm39) missense possibly damaging 0.70
R7725:Glb1l3 UTSW 9 26,739,659 (GRCm39) splice site probably null
R8998:Glb1l3 UTSW 9 26,764,914 (GRCm39) critical splice donor site probably null
R8999:Glb1l3 UTSW 9 26,764,914 (GRCm39) critical splice donor site probably null
R9158:Glb1l3 UTSW 9 26,765,005 (GRCm39) nonsense probably null
R9464:Glb1l3 UTSW 9 26,761,351 (GRCm39) missense probably damaging 1.00
R9536:Glb1l3 UTSW 9 26,770,929 (GRCm39) missense probably benign 0.01
Z1177:Glb1l3 UTSW 9 26,729,541 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16