Incidental Mutation 'IGL03299:Glb1l3'
ID416180
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: 0.068) question?
Stock #IGL03299
Quality Score
Status
Chromosome9
Chromosomal Location26817953-26860890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26859452 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
Predicted Effect probably damaging
Transcript: ENSMUST00000034448
AA Change: N30S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: N30S

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: N106S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,853 probably benign Het
Abca17 A T 17: 24,265,591 C1566S probably damaging Het
Akr1cl A T 1: 65,024,715 L105H probably damaging Het
Ano1 A G 7: 144,654,256 F256S probably damaging Het
Arfip2 C T 7: 105,637,943 R138H probably damaging Het
Cers6 T A 2: 68,861,784 M50K probably benign Het
Dnah1 G A 14: 31,315,122 Q256* probably null Het
Dync1h1 G A 12: 110,619,210 E852K possibly damaging Het
Fars2 C T 13: 36,537,410 Q443* probably null Het
Haus7 T C X: 73,453,064 probably null Het
Hectd1 C T 12: 51,800,888 probably benign Het
Hyal5 G T 6: 24,877,882 G326C probably damaging Het
Ibtk A T 9: 85,721,136 D605E probably benign Het
Kif26b T C 1: 178,821,560 L415P probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Muc5b A G 7: 141,841,380 D41G unknown Het
Mxra7 A G 11: 116,804,534 probably benign Het
Ncoa6 T C 2: 155,407,287 T1366A probably damaging Het
Nmd3 C T 3: 69,730,429 probably null Het
Olfr776 T C 10: 129,261,327 V122A probably benign Het
Pla2g4a T C 1: 149,851,367 N546S probably damaging Het
Prkcz T C 4: 155,286,790 T139A possibly damaging Het
Rarb T C 14: 16,434,168 K337E probably damaging Het
Rps6ka4 C T 19: 6,832,247 probably benign Het
Scamp2 A G 9: 57,577,740 probably null Het
Scn3a T A 2: 65,497,516 M877L probably benign Het
Sh3pxd2b T C 11: 32,411,448 probably benign Het
Slc17a2 T C 13: 23,821,111 probably null Het
Slc22a29 C T 19: 8,162,648 probably null Het
Srbd1 A T 17: 86,120,659 I382N possibly damaging Het
Tm7sf2 T C 19: 6,062,928 I387M probably benign Het
Wfs1 C A 5: 36,968,387 E311* probably null Het
Zc3h13 G A 14: 75,293,941 R93H probably damaging 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
IGL03288:Glb1l3 APN 9 26818305 missense probably damaging 0.99
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