Incidental Mutation 'R0881:B3glct'
ID 80530
Institutional Source Beutler Lab
Gene Symbol B3glct
Ensembl Gene ENSMUSG00000051950
Gene Name beta-3-glucosyltransferase
Synonyms B3galtl, LOC381694
MMRRC Submission 039048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R0881 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 149601695-149686064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149663034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 264 (V264E)
Ref Sequence ENSEMBL: ENSMUSP00000097972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100404]
AlphaFold Q8BHT6
Predicted Effect probably damaging
Transcript: ENSMUST00000100404
AA Change: V264E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: V264E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202302
Meta Mutation Damage Score 0.8351 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 93.0%
Validation Efficiency 96% (51/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abcc9 T A 6: 142,592,029 (GRCm39) I732F probably damaging Het
Adam10 T C 9: 70,653,519 (GRCm39) S248P probably damaging Het
Adam18 A T 8: 25,162,159 (GRCm39) probably benign Het
Angel2 G A 1: 190,669,661 (GRCm39) E114K probably damaging Het
Arhgap29 A G 3: 121,808,328 (GRCm39) T1169A probably damaging Het
Atp13a2 T A 4: 140,731,242 (GRCm39) M759K probably damaging Het
Atxn2l A G 7: 126,095,768 (GRCm39) S450P probably damaging Het
Bbx A G 16: 50,040,963 (GRCm39) probably benign Het
Bmp3 A G 5: 99,020,461 (GRCm39) N295D possibly damaging Het
C9 G A 15: 6,488,349 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdan1 A T 2: 120,551,466 (GRCm39) V1039E probably damaging Het
Dennd4a T C 9: 64,758,665 (GRCm39) probably null Het
Ext1 A G 15: 53,207,879 (GRCm39) L294P probably benign Het
Fsip2 C A 2: 82,816,617 (GRCm39) H4117N possibly damaging Het
Itga8 C T 2: 12,267,003 (GRCm39) probably null Het
Itln1 G T 1: 171,360,949 (GRCm39) H48N probably benign Het
Kcna5 T A 6: 126,511,957 (GRCm39) H57L probably benign Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Klhl25 A G 7: 75,516,027 (GRCm39) Y6C probably damaging Het
Lars1 C T 18: 42,347,851 (GRCm39) V991M probably benign Het
Med20 T C 17: 47,922,605 (GRCm39) M1T probably null Het
Mslnl A T 17: 25,961,939 (GRCm39) H138L possibly damaging Het
Mycbp2 T C 14: 103,457,449 (GRCm39) I1583V probably benign Het
Nipbl A C 15: 8,337,096 (GRCm39) V2093G probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Opalin T C 19: 41,052,420 (GRCm39) probably null Het
Or1j12 T G 2: 36,343,452 (GRCm39) L285R probably damaging Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Or8g26 A G 9: 39,095,984 (GRCm39) K170R probably benign Het
Pgm2 A T 5: 64,250,351 (GRCm39) T9S unknown Het
Piwil2 A C 14: 70,646,376 (GRCm39) S387A probably benign Het
Polr1c T C 17: 46,555,539 (GRCm39) T240A possibly damaging Het
Polr3c A G 3: 96,631,163 (GRCm39) M118T probably damaging Het
Pth1r C T 9: 110,560,641 (GRCm39) C42Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,821,151 (GRCm39) M1492L probably benign Het
Rrbp1 T A 2: 143,795,173 (GRCm39) Y1277F probably benign Het
Scgb3a2 T G 18: 43,897,549 (GRCm39) probably benign Het
Skint1 G A 4: 111,886,054 (GRCm39) S327N probably benign Het
Steap4 A T 5: 8,030,388 (GRCm39) S415C probably benign Het
Tex48 A G 4: 63,530,228 (GRCm39) probably benign Het
Tox2 T A 2: 163,163,365 (GRCm39) S502T probably benign Het
Usp47 T A 7: 111,690,643 (GRCm39) I762K possibly damaging Het
Vmn2r53 T C 7: 12,334,859 (GRCm39) H267R probably benign Het
Wnt2b A G 3: 104,860,513 (GRCm39) probably benign Het
Xirp1 T C 9: 119,847,483 (GRCm39) N28D possibly damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in B3glct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:B3glct APN 5 149,619,902 (GRCm39) missense probably benign
IGL01066:B3glct APN 5 149,632,890 (GRCm39) missense possibly damaging 0.88
IGL01953:B3glct APN 5 149,669,000 (GRCm39) missense probably benign 0.00
IGL02093:B3glct APN 5 149,656,150 (GRCm39) missense probably benign 0.08
IGL02344:B3glct APN 5 149,650,313 (GRCm39) nonsense probably null
IGL03183:B3glct APN 5 149,677,607 (GRCm39) missense probably damaging 1.00
IGL03277:B3glct APN 5 149,650,299 (GRCm39) missense probably damaging 1.00
mnemonic UTSW 5 149,668,905 (GRCm39) missense probably benign 0.19
past UTSW 5 149,677,651 (GRCm39) missense probably damaging 0.98
R0336:B3glct UTSW 5 149,670,057 (GRCm39) missense probably damaging 1.00
R0782:B3glct UTSW 5 149,650,275 (GRCm39) missense probably damaging 1.00
R1445:B3glct UTSW 5 149,677,604 (GRCm39) missense probably damaging 1.00
R2069:B3glct UTSW 5 149,632,845 (GRCm39) missense probably damaging 1.00
R2164:B3glct UTSW 5 149,677,621 (GRCm39) missense probably damaging 0.98
R2340:B3glct UTSW 5 149,668,905 (GRCm39) missense probably benign 0.19
R2395:B3glct UTSW 5 149,677,651 (GRCm39) missense probably damaging 0.98
R4612:B3glct UTSW 5 149,663,022 (GRCm39) missense probably damaging 1.00
R4751:B3glct UTSW 5 149,648,867 (GRCm39) splice site probably null
R5303:B3glct UTSW 5 149,677,488 (GRCm39) intron probably benign
R5405:B3glct UTSW 5 149,632,818 (GRCm39) missense probably damaging 1.00
R5444:B3glct UTSW 5 149,669,985 (GRCm39) missense probably damaging 1.00
R5616:B3glct UTSW 5 149,653,399 (GRCm39) nonsense probably null
R5683:B3glct UTSW 5 149,619,902 (GRCm39) missense probably benign
R6240:B3glct UTSW 5 149,650,253 (GRCm39) missense probably benign 0.01
R6409:B3glct UTSW 5 149,658,916 (GRCm39) missense probably benign
R6904:B3glct UTSW 5 149,663,069 (GRCm39) splice site probably null
R6908:B3glct UTSW 5 149,619,941 (GRCm39) critical splice donor site probably null
R7265:B3glct UTSW 5 149,632,785 (GRCm39) missense probably benign 0.00
R7395:B3glct UTSW 5 149,649,069 (GRCm39) splice site probably null
R7543:B3glct UTSW 5 149,677,604 (GRCm39) missense probably damaging 1.00
R8098:B3glct UTSW 5 149,673,965 (GRCm39) nonsense probably null
R8356:B3glct UTSW 5 149,650,254 (GRCm39) missense probably damaging 0.99
R8456:B3glct UTSW 5 149,650,254 (GRCm39) missense probably damaging 0.99
R9498:B3glct UTSW 5 149,673,894 (GRCm39) critical splice acceptor site probably null
R9797:B3glct UTSW 5 149,650,304 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GATAGGTTCAAGGCTGGACTCACG -3'
(R):5'- GCTATGACCACTCACGCTTCAAGAC -3'

Sequencing Primer
(F):5'- CTGTGCTGTCTGACTCCAGAG -3'
(R):5'- GCCTCTGCTAAGTGATCTCAAGG -3'
Posted On 2013-11-07