Incidental Mutation 'IGL03288:Glb1l3'
ID415792
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: 0.061) question?
Stock #IGL03288
Quality Score
Status
Chromosome9
Chromosomal Location26817953-26860890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 26818305 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 622 (V622G)
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034448
AA Change: V547G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: V547G

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: V622G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211353
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,604,616 K1589R probably benign Het
Armc3 T C 2: 19,235,482 F17L probably damaging Het
Ccdc17 T A 4: 116,599,429 L465H probably damaging Het
Cdh9 A T 15: 16,856,049 D725V probably damaging Het
Chl1 C T 6: 103,675,097 R309C probably damaging Het
Col4a3bp T A 13: 96,634,192 D536E probably benign Het
Dbt T A 3: 116,548,198 *483K probably null Het
Ddx46 A G 13: 55,638,094 D29G unknown Het
Des T C 1: 75,362,341 I222T possibly damaging Het
Dnah8 A G 17: 30,672,349 N776S probably benign Het
Fbn1 A T 2: 125,303,183 L2712Q probably benign Het
Gm5415 T A 1: 32,545,760 E356D probably benign Het
Grin2a T C 16: 9,669,840 D398G possibly damaging Het
Itgb3 T C 11: 104,633,467 M143T probably damaging Het
Lama2 G A 10: 27,369,051 R245C probably damaging Het
Lgals9 G A 11: 78,984,800 A6V probably benign Het
Lman2l A T 1: 36,443,547 Y83N probably damaging Het
Lrp2 T A 2: 69,426,039 T4586S probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Myo18b A C 5: 112,789,997 L1754R probably damaging Het
Myom2 T C 8: 15,122,679 L1202S probably damaging Het
Nav3 T C 10: 109,759,017 E1441G probably damaging Het
Nme8 T C 13: 19,696,606 E60G possibly damaging Het
Npffr2 G T 5: 89,583,161 A317S probably damaging Het
Nrxn2 A G 19: 6,490,696 D893G probably damaging Het
Nup153 T C 13: 46,705,205 E410G possibly damaging Het
Olfr18 A G 9: 20,335,911 probably null Het
Olfr746 T C 14: 50,653,375 I46T possibly damaging Het
Pcdhb10 A G 18: 37,413,305 D478G probably damaging Het
Phf13 T C 4: 151,992,369 D122G possibly damaging Het
Pkhd1 A T 1: 20,201,019 H3103Q probably benign Het
Prr11 A C 11: 87,096,961 probably null Het
Rac3 C T 11: 120,723,266 T118M possibly damaging Het
Rad54b T C 4: 11,569,833 S50P possibly damaging Het
Rp1 T C 1: 4,349,524 Q455R possibly damaging Het
Sorl1 T C 9: 42,033,562 probably benign Het
Spink5 A T 18: 44,014,760 I858F possibly damaging Het
Stxbp5 A T 10: 9,866,703 probably null Het
Svep1 A C 4: 58,116,532 V906G probably benign Het
Tlr4 A G 4: 66,839,753 E261G probably damaging Het
Zfp704 C T 3: 9,439,891 probably benign Het
Zfyve9 A T 4: 108,723,799 probably benign Het
Other mutations in Glb1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Glb1l3 APN 9 26853671 missense probably damaging 1.00
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
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 splice site probably null
R6653:Glb1l3 UTSW 9 26859588 missense probably benign 0.09
R6802:Glb1l3 UTSW 9 26859352 splice site 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
R7725:Glb1l3 UTSW 9 26828363 splice site probably null
Z1177:Glb1l3 UTSW 9 26818245 missense probably damaging 1.00
Posted On2016-08-02