Incidental Mutation 'R6908:B3glct'
ID538858
Institutional Source Beutler Lab
Gene Symbol B3glct
Ensembl Gene ENSMUSG00000051950
Gene Namebeta-3-glucosyltransferase
SynonymsB3galtl, LOC381694
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R6908 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location149678230-149762599 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 149696476 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100404]
Predicted Effect probably null
Transcript: ENSMUST00000100404
SMART Domains Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Fringe 93 216 7.4e-8 PFAM
Pfam:Fringe 253 470 1.8e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,657,305 I1197T probably benign Het
Atp2a1 A G 7: 126,448,535 probably null Het
Bbs9 T G 9: 22,567,723 I154S probably damaging Het
Brip1 T C 11: 86,077,884 Y825C probably damaging Het
Ccdc186 A T 19: 56,791,939 probably null Het
Celf6 T C 9: 59,603,823 V349A probably benign Het
Chd9 A G 8: 90,956,416 T495A probably benign Het
Cxxc1 G A 18: 74,220,559 C546Y probably damaging Het
Cxxc5 T C 18: 35,859,215 V223A probably damaging Het
Dlc1 A G 8: 36,937,687 F316S probably benign Het
Dnajc12 C A 10: 63,397,325 Q82K probably benign Het
Dock8 G A 19: 25,188,382 E1877K probably damaging Het
Epha3 T G 16: 63,598,249 H611P probably damaging Het
Fpr-rs6 C A 17: 20,182,439 C220F probably damaging Het
Fryl A G 5: 73,022,211 L2951P probably damaging Het
Gbp10 T G 5: 105,221,032 T314P probably damaging Het
Hbb-bs T C 7: 103,827,534 N77D probably benign Het
Ints13 A T 6: 146,555,033 D438E probably damaging Het
Itgb6 C T 2: 60,650,021 V324M probably benign Het
Kdm7a G T 6: 39,144,439 L861M possibly damaging Het
Kirrel3 A G 9: 35,013,401 T302A possibly damaging Het
Lama2 A T 10: 27,031,196 probably null Het
Lrp2 A T 2: 69,472,365 C3007S probably damaging Het
Lypd3 G C 7: 24,638,433 G75R probably damaging Het
Mastl T C 2: 23,155,976 probably benign Het
Mcf2l T C 8: 13,018,919 V1087A probably benign Het
Mcmdc2 C A 1: 9,930,778 probably null Het
Ms4a3 A G 19: 11,638,295 I39T probably damaging Het
Mylk T G 16: 34,880,273 C495G probably benign Het
Myo10 A G 15: 25,804,383 D1588G probably damaging Het
Myo15 A T 11: 60,506,006 T2634S probably damaging Het
Nlrp1b T C 11: 71,217,296 I460V probably benign Het
Nmt1 T G 11: 103,058,254 S312A possibly damaging Het
Nynrin T G 14: 55,863,878 S335A probably benign Het
Olfr710 T C 7: 106,944,632 Y123C possibly damaging Het
Paxip1 T C 5: 27,791,224 Y19C possibly damaging Het
Pcdhb2 G T 18: 37,296,524 A517S probably damaging Het
Pkd2l1 A G 19: 44,152,446 I559T probably damaging Het
Plec G A 15: 76,185,881 Q806* probably null Het
Prss51 C T 14: 64,096,152 A70V probably benign Het
Psd3 A T 8: 67,964,177 I356K probably benign Het
Ptprn2 A T 12: 116,888,888 I522F probably benign Het
Rab39 T C 9: 53,706,069 D16G probably damaging Het
Ralgps1 T C 2: 33,143,100 Q439R probably benign Het
Rapgef2 A T 3: 79,104,063 D238E probably benign Het
Ripor2 G A 13: 24,706,232 G697S probably damaging Het
Scn11a A T 9: 119,792,426 F642I probably damaging Het
Serinc4 G A 2: 121,453,605 T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 127,021,626 probably benign Het
Slc36a3 T C 11: 55,149,886 probably benign Het
Smc1b A G 15: 85,107,010 S656P probably damaging Het
Sorbs1 A G 19: 40,352,332 S455P probably damaging Het
Ttn C A 2: 76,889,858 probably benign Het
Tyw5 T C 1: 57,401,523 R27G probably damaging Het
Vmn1r209 T C 13: 22,806,230 T97A possibly damaging Het
Other mutations in B3glct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:B3glct APN 5 149696437 missense probably benign
IGL01066:B3glct APN 5 149709425 missense possibly damaging 0.88
IGL01953:B3glct APN 5 149745535 missense probably benign 0.00
IGL02093:B3glct APN 5 149732685 missense probably benign 0.08
IGL02344:B3glct APN 5 149726848 nonsense probably null
IGL03183:B3glct APN 5 149754142 missense probably damaging 1.00
IGL03277:B3glct APN 5 149726834 missense probably damaging 1.00
R0336:B3glct UTSW 5 149746592 missense probably damaging 1.00
R0782:B3glct UTSW 5 149726810 missense probably damaging 1.00
R0881:B3glct UTSW 5 149739569 missense probably damaging 1.00
R1445:B3glct UTSW 5 149754139 missense probably damaging 1.00
R2069:B3glct UTSW 5 149709380 missense probably damaging 1.00
R2164:B3glct UTSW 5 149754156 missense probably damaging 0.98
R2340:B3glct UTSW 5 149745440 missense probably benign 0.19
R2395:B3glct UTSW 5 149754186 missense probably damaging 0.98
R4612:B3glct UTSW 5 149739557 missense probably damaging 1.00
R4751:B3glct UTSW 5 149725402 splice site probably null
R5303:B3glct UTSW 5 149754023 intron probably benign
R5405:B3glct UTSW 5 149709353 missense probably damaging 1.00
R5444:B3glct UTSW 5 149746520 missense probably damaging 1.00
R5616:B3glct UTSW 5 149729934 nonsense probably null
R5683:B3glct UTSW 5 149696437 missense probably benign
R6240:B3glct UTSW 5 149726788 missense probably benign 0.01
R6409:B3glct UTSW 5 149735451 missense probably benign
R6904:B3glct UTSW 5 149739604 splice site probably null
R7265:B3glct UTSW 5 149709320 missense probably benign 0.00
R7395:B3glct UTSW 5 149725604 intron probably null
R7543:B3glct UTSW 5 149754139 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACTTGTTTGTAGCAATGCAGCTG -3'
(R):5'- TCTGGAGTTACACGAGAACCC -3'

Sequencing Primer
(F):5'- TGTAGCAATGCAGCTGTTTGAAAAG -3'
(R):5'- GATTTATGTTTCCCATTCAACC -3'
Posted On2018-11-06