Incidental Mutation 'IGL02105:Glb1l3'
ID 279951
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 # IGL02105
Quality Score
Status
Chromosome 9
Chromosomal Location 26729249-26772186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26729823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 516 (I516F)
Ref Sequence ENSEMBL: ENSMUSP00000034448 (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: I516F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: I516F

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: I591F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211353
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,587,374 (GRCm39) P734H probably damaging Het
Arfip2 A T 7: 105,288,590 (GRCm39) I14N probably damaging Het
Asap3 G T 4: 135,955,785 (GRCm39) probably null Het
Atg2a T A 19: 6,300,433 (GRCm39) probably benign Het
Bbs12 T C 3: 37,374,296 (GRCm39) L248P probably damaging Het
Brd3 A T 2: 27,349,788 (GRCm39) I255N probably damaging Het
Ccdc141 A G 2: 76,879,921 (GRCm39) probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd9 T A 8: 91,659,116 (GRCm39) D25E probably damaging Het
Cobl T C 11: 12,199,651 (GRCm39) K1325R probably damaging Het
Dnmt1 T A 9: 20,819,178 (GRCm39) E1486V unknown Het
Dock2 T C 11: 34,605,352 (GRCm39) N256D probably damaging Het
Dpp3 G A 19: 4,966,799 (GRCm39) S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 (GRCm39) G2992R probably damaging Het
Eef1a1 T C 9: 78,387,833 (GRCm39) D35G probably benign Het
Fntb A G 12: 76,909,263 (GRCm39) K84E probably benign Het
Gfi1 A G 5: 107,871,588 (GRCm39) probably null Het
Hltf A G 3: 20,146,921 (GRCm39) N560S probably damaging Het
Kif21b A G 1: 136,099,041 (GRCm39) N1443S probably benign Het
Knl1 T A 2: 118,902,289 (GRCm39) I1330K probably benign Het
Krt20 C T 11: 99,328,827 (GRCm39) V33M probably benign Het
Lao1 A G 4: 118,825,640 (GRCm39) T487A probably damaging Het
Larp4 A G 15: 99,883,952 (GRCm39) E63G probably damaging Het
Lrp1 A G 10: 127,380,448 (GRCm39) V3901A probably damaging Het
Lrrc17 A G 5: 21,775,255 (GRCm39) I272M probably benign Het
Malrd1 A T 2: 16,132,674 (GRCm39) Q1865L unknown Het
Mtg1 T C 7: 139,730,119 (GRCm39) L305P probably damaging Het
Mylk4 T A 13: 32,904,545 (GRCm39) E427D probably benign Het
Myom1 G T 17: 71,354,711 (GRCm39) probably benign Het
Nbeal1 A G 1: 60,292,660 (GRCm39) E1104G probably damaging Het
Obox5 A G 7: 15,492,500 (GRCm39) M152V probably benign Het
Olfm2 C T 9: 20,583,476 (GRCm39) V203M probably damaging Het
Or2l13 T G 16: 19,306,011 (GRCm39) L141R probably benign Het
Or8b12c A T 9: 37,715,891 (GRCm39) H228L possibly damaging Het
Pf4 A G 5: 90,921,114 (GRCm39) S105G probably damaging Het
Phlpp2 T A 8: 110,631,040 (GRCm39) I228N probably damaging Het
Sall1 T G 8: 89,759,196 (GRCm39) S303R probably damaging Het
Setd5 A G 6: 113,094,541 (GRCm39) E486G probably damaging Het
Slc9a5 C T 8: 106,076,075 (GRCm39) P23S probably damaging Het
Tbc1d9b T A 11: 50,040,653 (GRCm39) I390N probably damaging Het
Trp53 T C 11: 69,479,329 (GRCm39) V169A probably damaging Het
Usp4 A G 9: 108,262,131 (GRCm39) D791G probably damaging Het
Vmn1r76 A G 7: 11,664,417 (GRCm39) S266P possibly damaging Het
Vmn2r27 A G 6: 124,174,308 (GRCm39) probably benign Het
Xirp1 C T 9: 119,846,063 (GRCm39) G940E probably damaging Het
Zfp407 A T 18: 84,580,845 (GRCm39) C89* probably null 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
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
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