Incidental Mutation 'R0336:B3glct'
ID 34110
Institutional Source Beutler Lab
Gene Symbol B3glct
Ensembl Gene ENSMUSG00000051950
Gene Name beta-3-glucosyltransferase
Synonyms B3galtl, LOC381694
MMRRC Submission 038545-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R0336 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 149601695-149686064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149670057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 342 (D342G)
Ref Sequence ENSEMBL: ENSMUSP00000097972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100404]
AlphaFold Q8BHT6
Predicted Effect probably damaging
Transcript: ENSMUST00000100404
AA Change: D342G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: D342G

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 0.9704 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,481 (GRCm39) I2743V probably benign Het
Adamts16 A G 13: 70,939,913 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,458,998 (GRCm39) I427V probably benign Het
Arhgef1 T A 7: 24,621,382 (GRCm39) F510I possibly damaging Het
Bcl2a1c G T 9: 114,159,353 (GRCm39) V44F probably damaging Het
Brca1 A G 11: 101,414,819 (GRCm39) V1105A probably benign Het
Ccn5 C A 2: 163,674,242 (GRCm39) A214D probably damaging Het
Cep135 A G 5: 76,749,349 (GRCm39) H272R probably benign Het
Coa8 T C 12: 111,700,092 (GRCm39) probably benign Het
Cog1 A C 11: 113,553,076 (GRCm39) H365P probably benign Het
Col12a1 A T 9: 79,609,627 (GRCm39) L293Q probably damaging Het
Col18a1 A G 10: 76,894,570 (GRCm39) L1493P probably damaging Het
Ctsh A G 9: 89,957,791 (GRCm39) Y290C probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb39 G T 8: 19,102,985 (GRCm39) H37N possibly damaging Het
Epha3 A G 16: 63,387,011 (GRCm39) I875T probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fndc1 C T 17: 7,983,939 (GRCm39) R1329Q unknown Het
Fyn C A 10: 39,402,897 (GRCm39) T223K possibly damaging Het
Galnt6 A T 15: 100,597,087 (GRCm39) S360T probably damaging Het
Grsf1 C A 5: 88,811,012 (GRCm39) V336F probably damaging Het
Hip1 A T 5: 135,457,467 (GRCm39) Y720N probably benign Het
Hivep3 G A 4: 119,961,044 (GRCm39) E1700K probably damaging Het
Ifna6 T C 4: 88,746,178 (GRCm39) S176P probably damaging Het
Lilrb4b T A 10: 51,357,389 (GRCm39) L75Q probably benign Het
Lrig3 C T 10: 125,802,574 (GRCm39) T77I probably benign Het
Mpped1 C T 15: 83,720,483 (GRCm39) P135L probably damaging Het
Mss51 T A 14: 20,533,254 (GRCm39) I406F possibly damaging Het
Mybpc2 T C 7: 44,155,040 (GRCm39) N956D probably damaging Het
Or4a27 T C 2: 88,559,498 (GRCm39) I148M possibly damaging Het
Podxl2 G A 6: 88,826,577 (GRCm39) T243I probably benign Het
Polr2a C T 11: 69,627,719 (GRCm39) R1396Q possibly damaging Het
Pramel51 T C 12: 88,144,961 (GRCm39) I122V probably benign Het
Pygm C T 19: 6,438,788 (GRCm39) R205W probably damaging Het
Rfx3 A G 19: 27,783,662 (GRCm39) M428T probably benign Het
Ric1 A T 19: 29,565,193 (GRCm39) T647S probably damaging Het
Rictor G A 15: 6,806,234 (GRCm39) probably null Het
Rnf38 A T 4: 44,152,350 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,935,892 (GRCm39) I41K probably damaging Het
St8sia4 T A 1: 95,581,283 (GRCm39) D153V probably benign Het
Stk33 T C 7: 108,930,681 (GRCm39) N226S probably benign Het
Strn3 A G 12: 51,708,391 (GRCm39) probably null Het
Tlr6 G T 5: 65,111,289 (GRCm39) N539K probably benign Het
Tmem129 G T 5: 33,812,946 (GRCm39) P134Q probably damaging Het
Tmem94 A G 11: 115,678,211 (GRCm39) I145V probably benign Het
Trap1 A C 16: 3,862,490 (GRCm39) V596G probably damaging Het
Tspan2 A G 3: 102,642,343 (GRCm39) I11V probably null Het
Ttc23 A T 7: 67,312,231 (GRCm39) H46L probably benign Het
Txnip T A 3: 96,467,295 (GRCm39) D292E probably benign Het
Vmn1r121 T A 7: 20,832,387 (GRCm39) I18F possibly damaging Het
Vmn1r61 G A 7: 5,614,066 (GRCm39) H83Y probably benign Het
Vmn1r82 T C 7: 12,039,248 (GRCm39) S174P probably benign Het
Vmn2r79 A C 7: 86,651,287 (GRCm39) T229P probably benign Het
Vps13b T G 15: 35,455,279 (GRCm39) Y729* probably null Het
Xdh C T 17: 74,229,458 (GRCm39) V332M possibly damaging Het
Xkr5 C A 8: 18,990,652 (GRCm39) R205L possibly damaging Het
Zc3h4 T C 7: 16,169,103 (GRCm39) S1071P unknown Het
Zc3h6 A G 2: 128,857,332 (GRCm39) H617R possibly damaging Het
Zfp597 A G 16: 3,684,243 (GRCm39) V171A probably benign Het
Zfp709 T C 8: 72,644,449 (GRCm39) F626S probably damaging Het
Zfp944 C A 17: 22,558,009 (GRCm39) D413Y probably damaging Het
Zfp979 A C 4: 147,697,592 (GRCm39) S372R possibly 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
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
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'- GGCTCTCCTGCCACTTTAAGACTG -3'
(R):5'- GGGATCTGTTCCAGCATGGAGAAG -3'

Sequencing Primer
(F):5'- CATCTTCCCTAGGTCATTGTGGA -3'
(R):5'- atccccctgcctctgcc -3'
Posted On 2013-05-09