Incidental Mutation 'R0849:B3gnt6'
ID 77073
Institutional Source Beutler Lab
Gene Symbol B3gnt6
Ensembl Gene ENSMUSG00000074004
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Synonyms Core-3, Core3
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 97841622-97848682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97843950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 3 (L3F)
Ref Sequence ENSEMBL: ENSMUSP00000095879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098278]
AlphaFold Q3USF0
Predicted Effect probably benign
Transcript: ENSMUST00000098278
AA Change: L3F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095879
Gene: ENSMUSG00000074004
AA Change: L3F

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Galactosyl_T 126 322 1.1e-48 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
Validation Efficiency
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-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozgous for a knock-out allele exhibit increased permeability of the intestinal barrier, increased susceptibility to DSS-induced colitis and accelerated colorectal tumorigenesis in mice treated with AOM and DSS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C probably damaging Het
Other mutations in B3gnt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:B3gnt6 APN 7 97,843,730 (GRCm39) missense probably damaging 1.00
IGL02104:B3gnt6 APN 7 97,843,308 (GRCm39) missense probably damaging 1.00
R0631:B3gnt6 UTSW 7 97,842,899 (GRCm39) missense probably benign 0.02
R1015:B3gnt6 UTSW 7 97,843,802 (GRCm39) missense probably benign 0.00
R2034:B3gnt6 UTSW 7 97,843,225 (GRCm39) missense possibly damaging 0.92
R2915:B3gnt6 UTSW 7 97,842,800 (GRCm39) missense probably benign 0.00
R8984:B3gnt6 UTSW 7 97,842,821 (GRCm39) missense probably benign 0.00
R8996:B3gnt6 UTSW 7 97,842,799 (GRCm39) missense probably benign
R9100:B3gnt6 UTSW 7 97,843,958 (GRCm39) start codon destroyed not run
R9549:B3gnt6 UTSW 7 97,843,656 (GRCm39) missense possibly damaging 0.81
Z1176:B3gnt6 UTSW 7 97,843,096 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGAAGCCAGTCAGGAGGTTCG -3'
(R):5'- GCTTGGGAGACCTAAGACGTTCAC -3'

Sequencing Primer
(F):5'- GGGGCACCTGGAAGAGC -3'
(R):5'- gcctgagccaccctatcc -3'
Posted On 2013-10-16