Incidental Mutation 'R5303:B3glct'
ID 404344
Institutional Source Beutler Lab
Gene Symbol B3glct
Ensembl Gene ENSMUSG00000051950
Gene Name beta-3-glucosyltransferase
Synonyms B3galtl, LOC381694
MMRRC Submission 042886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R5303 (G1)
Quality Score 185
Status Validated
Chromosome 5
Chromosomal Location 149601695-149686064 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 149677488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100404]
AlphaFold Q8BHT6
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159581
AA Change: H28Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202302
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (63/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik A G 2: 19,521,110 (GRCm39) Y256H possibly damaging Het
Abcc12 C A 8: 87,236,415 (GRCm39) R1133L probably benign Het
Acss3 T A 10: 106,920,712 (GRCm39) T133S possibly damaging Het
Adra1d G A 2: 131,388,169 (GRCm39) P462L possibly damaging Het
Ank2 A T 3: 126,739,453 (GRCm39) probably benign Het
Arid2 G A 15: 96,290,349 (GRCm39) R1748Q probably damaging Het
C3ar1 A T 6: 122,826,794 (GRCm39) S474R probably damaging Het
Cd1d1 A G 3: 86,905,427 (GRCm39) F189L probably benign Het
Cd46 T C 1: 194,744,707 (GRCm39) I344V probably benign Het
Chrna1 T C 2: 73,396,618 (GRCm39) M426V probably benign Het
Cinp G A 12: 110,843,295 (GRCm39) T139M probably damaging Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Disp2 T C 2: 118,641,329 (GRCm39) probably benign Het
Dnaaf6rt G A 1: 31,262,537 (GRCm39) R173H probably damaging Het
Eapp G A 12: 54,739,703 (GRCm39) P38L probably damaging Het
Eif4g3 T C 4: 137,853,873 (GRCm39) S480P probably benign Het
Epb41l3 G C 17: 69,564,444 (GRCm39) E390Q probably damaging Het
Fermt1 T C 2: 132,753,259 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,463 (GRCm39) F134Y possibly damaging Het
Foxp2 T A 6: 15,324,636 (GRCm39) C95S probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria1 A G 11: 57,133,851 (GRCm39) T577A probably benign Het
Hal A G 10: 93,352,227 (GRCm39) probably benign Het
Hdac7 C A 15: 97,695,899 (GRCm39) E670D probably damaging Het
Islr2 A T 9: 58,115,558 (GRCm39) probably benign Het
Itpr3 T C 17: 27,335,663 (GRCm39) Y2258H probably benign Het
Mical3 G T 6: 120,936,941 (GRCm39) T1195K probably benign Het
Myh1 T C 11: 67,092,843 (GRCm39) S46P probably benign Het
Mylk3 T A 8: 86,077,105 (GRCm39) I444F probably damaging Het
Nlrc3 A T 16: 3,781,478 (GRCm39) C644S probably benign Het
Notch1 C T 2: 26,368,631 (GRCm39) V553M probably benign Het
Or10g9 A G 9: 39,911,884 (GRCm39) I213T probably damaging Het
Or4a72 T A 2: 89,405,345 (GRCm39) I242F possibly damaging Het
Or51a43 T C 7: 103,718,239 (GRCm39) probably benign Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Postn A G 3: 54,285,018 (GRCm39) T669A probably damaging Het
Ppp5c G T 7: 16,739,209 (GRCm39) Q472K probably benign Het
Qsox1 T C 1: 155,655,039 (GRCm39) H708R probably benign Het
Rhbdl2 A G 4: 123,704,014 (GRCm39) probably benign Het
Ryr1 C T 7: 28,767,907 (GRCm39) E2884K probably damaging Het
Saysd1 T C 14: 20,133,026 (GRCm39) T44A probably benign Het
Septin14 T A 5: 129,766,712 (GRCm39) M290L possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc38a8 C A 8: 120,212,780 (GRCm39) V294L possibly damaging Het
Spdye4b C T 5: 143,188,158 (GRCm39) T217I probably benign Het
Sugp2 T A 8: 70,694,827 (GRCm39) probably benign Het
Syne1 T C 10: 5,370,464 (GRCm39) T232A probably benign Het
Tbc1d5 A T 17: 51,043,228 (GRCm39) D753E probably benign Het
Tmed1 G T 9: 21,421,343 (GRCm39) Q44K possibly damaging Het
Ttc6 T A 12: 57,622,606 (GRCm39) S2T possibly damaging Het
Ube4b T C 4: 149,468,260 (GRCm39) D172G probably damaging Het
Vmn1r235 C A 17: 21,482,268 (GRCm39) Q198K probably benign Het
Wdfy3 T C 5: 102,100,849 (GRCm39) H256R probably damaging Het
Zfat A T 15: 67,982,335 (GRCm39) H1059Q probably damaging Het
Zfp758 A G 17: 22,593,842 (GRCm39) I77M probably benign Het
Zfp850 C T 7: 27,707,838 (GRCm39) A2T probably damaging Het
Zfyve1 A T 12: 83,621,830 (GRCm39) N188K probably damaging Het
Zyg11a C T 4: 108,041,629 (GRCm39) probably null 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
R0881:B3glct UTSW 5 149,663,034 (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
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'- AACATAGTGTTTGTTTACAGGAGATAC -3'
(R):5'- ATGAGAGGAGAAACGTGCTCTC -3'

Sequencing Primer
(F):5'- TACATACAAAAGGGTTTCCTAGGG -3'
(R):5'- TGCTCTCTCACCTGATGGAAGAG -3'
Posted On 2016-07-22