Incidental Mutation 'IGL03181:Glb1l3'
ID 412268
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 # IGL03181
Quality Score
Status
Chromosome 9
Chromosomal Location 26729249-26772186 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 26739659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034448
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966

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 noncoding transcript
Transcript: ENSMUST00000209592
Predicted Effect probably null
Transcript: ENSMUST00000210274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211353
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging 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
IGL02363:Glb1l3 APN 9 26,764,940 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02