Incidental Mutation 'R7543:B3glct'
ID 584003
Institutional Source Beutler Lab
Gene Symbol B3glct
Ensembl Gene ENSMUSG00000051950
Gene Name beta-3-glucosyltransferase
Synonyms B3galtl, LOC381694
MMRRC Submission 045615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R7543 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 149601695-149686064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149677604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 411 (D411G)
Ref Sequence ENSEMBL: ENSMUSP00000097972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100404]
AlphaFold Q8BHT6
Predicted Effect probably damaging
Transcript: ENSMUST00000100404
AA Change: D411G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: D411G

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,559,920 (GRCm39) S54T probably damaging Het
Acsl5 G A 19: 55,266,615 (GRCm39) V59I Het
Acss2 A T 2: 155,391,755 (GRCm39) I203F probably damaging Het
Add2 A G 6: 86,083,207 (GRCm39) N435S probably damaging Het
Afap1l1 T C 18: 61,889,972 (GRCm39) D88G probably benign Het
Ajm1 C A 2: 25,467,410 (GRCm39) A834S possibly damaging Het
Ank3 C T 10: 69,786,846 (GRCm39) T970M possibly damaging Het
Ap3b2 A T 7: 81,115,894 (GRCm39) probably null Het
Apc2 A G 10: 80,150,720 (GRCm39) K1925E possibly damaging Het
Aspscr1 A G 11: 120,600,249 (GRCm39) N130D unknown Het
Bard1 T C 1: 71,114,589 (GRCm39) K131E probably damaging Het
Bche T C 3: 73,609,066 (GRCm39) D120G probably damaging Het
Brms1l A T 12: 55,914,997 (GRCm39) D302V probably damaging Het
Ccdc191 T A 16: 43,718,572 (GRCm39) Y56* probably null Het
Cela3a T A 4: 137,129,883 (GRCm39) H246L probably damaging Het
Col11a2 A T 17: 34,269,430 (GRCm39) D440V unknown Het
Cplane1 T C 15: 8,254,876 (GRCm39) I21T unknown Het
Dag1 C T 9: 108,095,280 (GRCm39) V71I probably benign Het
Ddx23 A G 15: 98,556,139 (GRCm39) S60P unknown Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Dync1i1 T C 6: 5,784,464 (GRCm39) S103P possibly damaging Het
Erap1 T A 13: 74,822,753 (GRCm39) D755E probably damaging Het
Exosc8 T C 3: 54,636,669 (GRCm39) T221A probably benign Het
Fbxo4 T C 15: 4,007,385 (GRCm39) D93G probably damaging Het
Fzd5 A G 1: 64,774,999 (GRCm39) V254A probably damaging Het
Gbp3 T C 3: 142,272,341 (GRCm39) V281A probably damaging Het
Gcc2 T A 10: 58,107,086 (GRCm39) I774K probably benign Het
Gpr132 A C 12: 112,815,822 (GRCm39) C335G probably benign Het
Gpr162 G T 6: 124,838,355 (GRCm39) Y98* probably null Het
H2-T24 T C 17: 36,325,743 (GRCm39) T283A possibly damaging Het
Hoxc6 A G 15: 102,918,186 (GRCm39) Y50C probably damaging Het
Il4i1 A G 7: 44,486,199 (GRCm39) N53S possibly damaging Het
Iqcf3 T C 9: 106,431,425 (GRCm39) K60R possibly damaging Het
Kif24 A T 4: 41,413,993 (GRCm39) Y316* probably null Het
Krt18 A G 15: 101,939,896 (GRCm39) K365E probably damaging Het
Lrguk T A 6: 34,025,870 (GRCm39) L222* probably null Het
Mbd1 T G 18: 74,407,520 (GRCm39) V210G probably damaging Het
Ms4a6b A G 19: 11,499,155 (GRCm39) I90V not run Het
Muc16 A G 9: 18,556,028 (GRCm39) S3422P unknown Het
Mynn G A 3: 30,661,188 (GRCm39) W90* probably null Het
Or5p5 T A 7: 107,414,308 (GRCm39) N172K probably damaging Het
Pdpr T A 8: 111,859,520 (GRCm39) H687Q probably damaging Het
Pkd1 A G 17: 24,814,227 (GRCm39) E4199G probably damaging Het
Plekhg5 A G 4: 152,192,491 (GRCm39) E517G probably damaging Het
Plxna1 T C 6: 89,299,837 (GRCm39) D1644G probably damaging Het
Pon1 C T 6: 5,168,400 (GRCm39) V336M possibly damaging Het
Pop1 T A 15: 34,530,593 (GRCm39) L1027Q probably damaging Het
Pramel1 T C 4: 143,124,993 (GRCm39) S306P probably damaging Het
Prpsap2 A T 11: 61,635,797 (GRCm39) F168I possibly damaging Het
Rabgap1 T A 2: 37,359,444 (GRCm39) D2E probably damaging Het
Rgmb A T 17: 16,027,777 (GRCm39) L314Q probably damaging Het
Ryr2 C T 13: 11,653,317 (GRCm39) probably null Het
Samd4b A T 7: 28,113,711 (GRCm39) S85T probably benign Het
Sfrp5 T C 19: 42,187,302 (GRCm39) D256G possibly damaging Het
Slc25a23 A G 17: 57,365,106 (GRCm39) probably null Het
Sox5 A G 6: 143,786,905 (GRCm39) I589T probably damaging Het
Sybu T A 15: 44,546,848 (GRCm39) probably null Het
Syne2 A G 12: 75,953,616 (GRCm39) E515G possibly damaging Het
Tbc1d17 G A 7: 44,495,503 (GRCm39) A107V probably benign Het
Tcstv2c A C 13: 120,616,290 (GRCm39) E43A probably damaging Het
Tex50 G T 1: 160,984,817 (GRCm39) T141K possibly damaging Het
Tmc7 A G 7: 118,144,979 (GRCm39) L527P probably benign Het
Tns4 T A 11: 98,963,079 (GRCm39) D547V probably benign Het
Topors A G 4: 40,268,312 (GRCm39) S65P probably damaging Het
Trdc T A 14: 54,381,692 (GRCm39) S126T Het
Ttc27 A T 17: 75,024,745 (GRCm39) probably benign Het
Wdfy3 A C 5: 102,083,925 (GRCm39) I787S probably benign Het
Zc3h11a T C 1: 133,554,768 (GRCm39) D404G possibly damaging Het
Zfp799 A G 17: 33,039,534 (GRCm39) I244T probably benign Het
Zfp93 A G 7: 23,974,533 (GRCm39) T173A probably benign Het
Zfp953 T A 13: 67,495,953 (GRCm39) L29F probably damaging 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
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
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'- AGAACCTCTCGGGAGTTCAG -3'
(R):5'- GATTCTGCCATGCTCAGTCC -3'

Sequencing Primer
(F):5'- TCTCGGGAGTTCAGCCTGTAAAC -3'
(R):5'- CTCAGCAGTTAAGAGCACTGGC -3'
Posted On 2019-10-17