Incidental Mutation 'R7347:Glb1l3'
ID 570290
Institutional Source Beutler Lab
Gene Symbol Glb1l3
Ensembl Gene ENSMUSG00000031966
Gene Name galactosidase, beta 1 like 3
Synonyms 4921509F24Rik
MMRRC Submission 045374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7347 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 26729249-26772186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26740299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 344 (Y344N)
Ref Sequence ENSEMBL: ENSMUSP00000147979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034448
AA Change: Y268N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: Y268N

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 benign
Transcript: ENSMUST00000210274
AA Change: Y344N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik G T 3: 104,985,728 (GRCm39) R47S unknown Het
Abtb2 T G 2: 103,397,757 (GRCm39) I229S probably damaging Het
Adgre1 T C 17: 57,727,441 (GRCm39) L457P probably damaging Het
Amer3 C A 1: 34,626,983 (GRCm39) D407E probably damaging Het
Arhgap20 T C 9: 51,760,335 (GRCm39) S729P probably benign Het
Asap2 T G 12: 21,279,458 (GRCm39) I418S probably benign Het
Atp5mf T C 5: 145,125,295 (GRCm39) probably null Het
Brinp3 T A 1: 146,777,824 (GRCm39) V757E probably benign Het
Brip1 C T 11: 86,029,929 (GRCm39) G572R probably benign Het
C3 C A 17: 57,530,215 (GRCm39) R462L probably benign Het
Cat T A 2: 103,293,643 (GRCm39) H395L probably benign Het
Ccdc168 G T 1: 44,098,656 (GRCm39) P814Q probably damaging Het
Cela3a T C 4: 137,129,917 (GRCm39) N235D possibly damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cntnap1 G T 11: 101,076,094 (GRCm39) G993W probably damaging Het
Col9a1 A G 1: 24,218,484 (GRCm39) probably null Het
Coro2b G T 9: 62,396,654 (GRCm39) H29N probably benign Het
Dll3 C T 7: 27,998,536 (GRCm39) R143H probably damaging Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dync1i1 T A 6: 5,784,530 (GRCm39) *114R probably null Het
Ecm2 T C 13: 49,668,554 (GRCm39) S86P probably damaging Het
Eif5 T C 12: 111,506,724 (GRCm39) probably benign Het
Ets1 T A 9: 32,644,328 (GRCm39) probably null Het
Exph5 A G 9: 53,287,196 (GRCm39) N1426D possibly damaging Het
Eya2 T C 2: 165,529,586 (GRCm39) F110L probably benign Het
Flt1 T A 5: 147,517,191 (GRCm39) E1032V probably damaging Het
Galnt5 A T 2: 57,907,205 (GRCm39) H556L probably benign Het
Glrx3 C A 7: 137,061,015 (GRCm39) D216E possibly damaging Het
Gm45871 T A 18: 90,609,499 (GRCm39) C246S probably damaging Het
Gstm4 A G 3: 107,949,689 (GRCm39) L137P probably benign Het
Hsd17b13 T C 5: 104,116,616 (GRCm39) T169A probably damaging Het
Hydin A C 8: 111,326,994 (GRCm39) T4778P probably benign Het
Ifna15 A G 4: 88,476,220 (GRCm39) L88P probably damaging Het
Inhca T A 9: 103,159,845 (GRCm39) E22V possibly damaging Het
Kcnab1 G A 3: 65,283,952 (GRCm39) R390H probably benign Het
Kng1 C A 16: 22,886,537 (GRCm39) H161N possibly damaging Het
Lamp5 T C 2: 135,902,878 (GRCm39) V199A probably benign Het
Lrig3 G A 10: 125,845,835 (GRCm39) V755M probably damaging Het
Mad1l1 C T 5: 140,129,799 (GRCm39) R412H probably damaging Het
Marchf6 C A 15: 31,486,505 (GRCm39) C350F probably benign Het
Mastl A G 2: 23,023,401 (GRCm39) S441P probably damaging Het
Mfsd13b A T 7: 120,590,951 (GRCm39) M231L probably benign Het
Mical2 T C 7: 111,981,358 (GRCm39) V444A probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo15a A G 11: 60,368,787 (GRCm39) M516V probably benign Het
Myo1b A T 1: 51,790,413 (GRCm39) F1110L probably damaging Het
Nbr1 T A 11: 101,460,147 (GRCm39) L381* probably null Het
Nln T C 13: 104,187,355 (GRCm39) K325E probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Nrp2 C T 1: 62,784,663 (GRCm39) P271S probably benign Het
Obox6 A C 7: 15,568,571 (GRCm39) L102V possibly damaging Het
Or4a69 T C 2: 89,312,799 (GRCm39) S227G probably benign Het
Or4p8 T C 2: 88,727,615 (GRCm39) I109V possibly damaging Het
Or7g33 A G 9: 19,448,395 (GRCm39) M277T probably damaging Het
Or8k16 T C 2: 85,520,181 (GRCm39) M136T probably damaging Het
Pde10a A G 17: 9,186,294 (GRCm39) H567R probably damaging Het
Pdgfra C T 5: 75,343,759 (GRCm39) S760L possibly damaging Het
Pid1 T A 1: 84,136,850 (GRCm39) I94L unknown Het
Plekhn1 T C 4: 156,307,128 (GRCm39) H474R probably benign Het
Prcc A T 3: 87,776,988 (GRCm39) S329T possibly damaging Het
Pros1 G T 16: 62,739,886 (GRCm39) R445L probably damaging Het
Pxdn C A 12: 30,062,260 (GRCm39) H1370Q probably benign Het
Sgce T A 6: 4,694,106 (GRCm39) R283S probably damaging Het
Slc25a20 T G 9: 108,559,657 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,779 (GRCm39) V446A probably damaging Het
Slc6a4 C G 11: 76,907,911 (GRCm39) Y358* probably null Het
Sned1 A C 1: 93,209,458 (GRCm39) E857A probably damaging Het
Spata31e2 A T 1: 26,723,548 (GRCm39) L544Q probably benign Het
Spata31e3 T C 13: 50,399,780 (GRCm39) I849V probably benign Het
Spdye4b C T 5: 143,188,145 (GRCm39) R213C possibly damaging Het
Spry2 T G 14: 106,130,946 (GRCm39) E80A probably damaging Het
Stard9 G A 2: 120,497,015 (GRCm39) C142Y probably benign Het
Sync A T 4: 129,188,099 (GRCm39) Q377L probably benign Het
Tdrd12 A G 7: 35,185,117 (GRCm39) C718R Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmbim1 T C 1: 74,330,438 (GRCm39) E185G probably benign Het
Tyk2 T C 9: 21,019,330 (GRCm39) M1031V probably damaging Het
Vmn1r71 C T 7: 10,482,428 (GRCm39) V87I not run Het
Vmn2r49 A G 7: 9,720,741 (GRCm39) V250A probably benign Het
Yipf3 A C 17: 46,561,753 (GRCm39) T187P probably damaging Het
Zfp148 G T 16: 33,255,160 (GRCm39) R50L possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAGAAGCTTGCCTGCTAGAG -3'
(R):5'- AGCTGGAGATGGTAGTTTTCAC -3'

Sequencing Primer
(F):5'- AGCTTGCCTGCTAGAGTGACAG -3'
(R):5'- AGATGGTAGTTTTCACCTGAGAGCTC -3'
Posted On 2019-09-13