Incidental Mutation 'IGL02938:Glb1l3'
ID364428
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 #IGL02938
Quality Score
Status
Chromosome9
Chromosomal Location26817953-26860890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26826759 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 368 (V368A)
Ref Sequence ENSEMBL: ENSMUSP00000034448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
Predicted Effect probably benign
Transcript: ENSMUST00000034448
AA Change: V368A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: V368A

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 benign
Transcript: ENSMUST00000210274
AA Change: V444A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211353
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,362,229 T1152A possibly damaging Het
Adgra3 T C 5: 49,961,317 D963G probably benign Het
Adrm1 T A 2: 180,175,602 D287E probably damaging Het
Agxt A G 1: 93,145,109 D396G probably damaging Het
Ankle1 C T 8: 71,406,252 A43V probably damaging Het
Apc A G 18: 34,315,228 I1692V probably damaging Het
Arhgef18 T C 8: 3,450,802 V588A probably benign Het
Ccdc62 T A 5: 123,934,184 V4E probably benign Het
Cdh16 A T 8: 104,616,929 probably benign Het
Cr2 A T 1: 195,166,388 C276S probably damaging Het
Cyp2c29 T A 19: 39,287,123 D2E probably damaging Het
Ddx31 T A 2: 28,859,023 V277E possibly damaging Het
Defa35 C T 8: 21,065,914 probably benign Het
Dhx9 A T 1: 153,464,630 D707E probably benign Het
Dnmt1 A G 9: 20,941,373 S28P probably benign Het
Dock5 A T 14: 67,757,218 probably benign Het
Dpp6 T C 5: 27,723,367 probably benign Het
Egln1 A G 8: 124,914,015 probably null Het
Esr1 T A 10: 4,783,872 M224K probably damaging Het
Flt1 A G 5: 147,678,299 I279T possibly damaging Het
Fzd6 T C 15: 39,033,890 I478T probably benign Het
Gltpd2 T C 11: 70,519,811 F5S probably damaging Het
Helz G A 11: 107,686,438 E1872K unknown Het
Irak3 A G 10: 120,182,524 probably null Het
Itsn2 A T 12: 4,697,216 I1206F probably damaging Het
Lingo3 A T 10: 80,835,154 V314E probably benign Het
Lrrc8a C T 2: 30,255,686 R171W probably damaging Het
Lsg1 T C 16: 30,571,206 T364A probably benign Het
Mks1 T C 11: 87,862,652 probably null Het
Mov10l1 T A 15: 88,988,526 F89Y probably damaging Het
Myo1b A C 1: 51,801,178 probably null Het
Myo1h T C 5: 114,358,939 Y819H probably damaging Het
Nedd1 G A 10: 92,689,657 Q597* probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1431 A G 19: 12,209,682 T39A probably benign Het
Pbrm1 T C 14: 31,067,804 S792P probably damaging Het
Pccb T C 9: 100,984,396 N457S probably benign Het
Plekho2 T C 9: 65,558,620 E162G possibly damaging Het
Pou1f1 A T 16: 65,523,544 T40S probably benign Het
Pwwp2b T C 7: 139,256,143 V500A probably damaging Het
Pygo1 C T 9: 72,944,738 A69V probably damaging Het
Slc18a3 A C 14: 32,463,815 Y204D probably damaging Het
Stab2 A G 10: 86,871,921 V261A possibly damaging Het
Tacc2 A T 7: 130,728,941 K208N probably damaging Het
Tbc1d4 T C 14: 101,501,100 D403G probably damaging Het
Tbc1d9 T A 8: 83,269,067 probably benign Het
Tdrkh T C 3: 94,429,350 probably benign Het
Tktl2 T A 8: 66,512,330 L180H probably damaging Het
Tm4sf19 T A 16: 32,405,915 L27Q probably damaging Het
Tmtc2 A G 10: 105,413,296 V192A probably damaging Het
Ttn C A 2: 76,712,984 M33219I probably damaging Het
Vmn1r52 A T 6: 90,179,313 M200L possibly damaging Het
Vmn2r114 T A 17: 23,291,289 H739L probably benign Het
Wdr20rt T C 12: 65,225,918 F52L probably benign Het
Zbtb38 C T 9: 96,687,174 G619D probably benign Het
Zfyve19 T C 2: 119,211,518 V156A 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
IGL03181:Glb1l3 APN 9 26828363 splice site probably null
IGL03288:Glb1l3 APN 9 26818305 missense probably damaging 0.99
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 On2015-12-18