Incidental Mutation 'IGL02797:B3gat2'
ID 360004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gat2
Ensembl Gene ENSMUSG00000026156
Gene Name beta-1,3-glucuronyltransferase 2
Synonyms GlcAT-S
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # IGL02797
Quality Score
Status
Chromosome 1
Chromosomal Location 23801007-23886946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23854360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 218 (Y218C)
Ref Sequence ENSEMBL: ENSMUSP00000117089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063663] [ENSMUST00000140583] [ENSMUST00000144602]
AlphaFold P59270
Predicted Effect probably damaging
Transcript: ENSMUST00000063663
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156
AA Change: Y218C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 305 1.1e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140583
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117089
Gene: ENSMUSG00000026156
AA Change: Y218C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 253 3.3e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144602
AA Change: Y20C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115870
Gene: ENSMUSG00000026156
AA Change: Y20C

DomainStartEndE-ValueType
Pfam:Glyco_transf_43 1 56 1.4e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,214 (GRCm39) M924T probably benign Het
Afg2a A G 3: 37,512,465 (GRCm39) probably benign Het
Bcs1l T C 1: 74,629,620 (GRCm39) probably null Het
Cd109 T A 9: 78,568,995 (GRCm39) I358N probably damaging Het
Cd276 T C 9: 58,444,719 (GRCm39) D84G possibly damaging Het
Chsy1 T C 7: 65,821,412 (GRCm39) F549S probably damaging Het
Clca3a2 T C 3: 144,787,024 (GRCm39) N549S probably benign Het
Cma1 A G 14: 56,181,271 (GRCm39) S32P possibly damaging Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Ctps1 A T 4: 120,420,021 (GRCm39) I131K probably benign Het
Cyp2w1 T C 5: 139,342,628 (GRCm39) L441P probably damaging Het
Dnajc21 A G 15: 10,461,441 (GRCm39) Y170H probably damaging Het
Eif3a A T 19: 60,761,164 (GRCm39) L648Q probably damaging Het
Eif3l T A 15: 78,959,477 (GRCm39) D6E probably benign Het
Fam228a A T 12: 4,781,484 (GRCm39) L125Q probably damaging Het
Foxa2 A G 2: 147,886,045 (GRCm39) C263R possibly damaging Het
Gm17455 A G 10: 60,239,107 (GRCm39) E124G possibly damaging Het
Gpc6 T G 14: 117,163,394 (GRCm39) L16R probably damaging Het
Hdac9 A G 12: 34,443,273 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,679 (GRCm39) N400S probably benign Het
Herc4 G A 10: 63,152,586 (GRCm39) probably null Het
Il12b A G 11: 44,301,180 (GRCm39) probably null Het
Lama4 A G 10: 38,932,920 (GRCm39) R599G probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Mink1 C T 11: 70,501,176 (GRCm39) P784S probably damaging Het
Musk T C 4: 58,366,921 (GRCm39) F513S probably benign Het
Nfasc T A 1: 132,538,186 (GRCm39) D474V probably damaging Het
Nhsl3 C T 4: 129,117,104 (GRCm39) R565H probably damaging Het
Nos2 T G 11: 78,831,170 (GRCm39) F420V probably damaging Het
Or52ab2 A T 7: 102,970,058 (GRCm39) I147L probably benign Het
Pcdhb14 A G 18: 37,582,904 (GRCm39) Y670C probably damaging Het
Polr1b A G 2: 128,944,899 (GRCm39) E65G probably damaging Het
Ppp1r10 T G 17: 36,238,904 (GRCm39) probably null Het
Prag1 C T 8: 36,606,655 (GRCm39) R799C probably damaging Het
Prb1c T A 6: 132,340,008 (GRCm39) probably null Het
Ptch1 T C 13: 63,681,421 (GRCm39) N485S probably benign Het
Rgsl1 T C 1: 153,683,454 (GRCm39) T19A probably damaging Het
Sgpl1 A C 10: 60,937,507 (GRCm39) S507A probably benign Het
Sgpp2 A G 1: 78,393,819 (GRCm39) D274G probably benign Het
Skap1 A G 11: 96,603,843 (GRCm39) D211G possibly damaging Het
Smc3 A G 19: 53,627,189 (GRCm39) T830A probably benign Het
Smpd2 G A 10: 41,364,074 (GRCm39) T215I possibly damaging Het
Sntg2 T G 12: 30,276,891 (GRCm39) Y387S possibly damaging Het
Sorl1 T G 9: 41,948,355 (GRCm39) D810A probably damaging Het
Spop T A 11: 95,372,909 (GRCm39) I217N probably damaging Het
Stac2 T C 11: 97,934,345 (GRCm39) R120G possibly damaging Het
Stau1 A T 2: 166,791,266 (GRCm39) *496R probably null Het
Tmeff2 C T 1: 50,967,206 (GRCm39) R34C probably damaging Het
Treml2 C T 17: 48,609,739 (GRCm39) A57V possibly damaging Het
Vmn2r15 T C 5: 109,445,250 (GRCm39) D58G probably benign Het
Vmn2r7 T C 3: 64,598,666 (GRCm39) I721M possibly damaging Het
Vmn2r70 C A 7: 85,208,295 (GRCm39) M727I probably benign Het
Vwa8 T A 14: 79,162,702 (GRCm39) C161S probably benign Het
Other mutations in B3gat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:B3gat2 APN 1 23,802,301 (GRCm39) missense probably damaging 1.00
IGL01918:B3gat2 APN 1 23,884,209 (GRCm39) nonsense probably null
IGL03100:B3gat2 APN 1 23,802,272 (GRCm39) missense probably damaging 1.00
R2200:B3gat2 UTSW 1 23,801,873 (GRCm39) missense probably benign 0.03
R5860:B3gat2 UTSW 1 23,854,400 (GRCm39) nonsense probably null
R6271:B3gat2 UTSW 1 23,854,342 (GRCm39) missense probably damaging 1.00
R6312:B3gat2 UTSW 1 23,854,548 (GRCm39) nonsense probably null
R7185:B3gat2 UTSW 1 23,802,272 (GRCm39) missense probably damaging 1.00
R7751:B3gat2 UTSW 1 23,801,945 (GRCm39) missense probably benign
R8117:B3gat2 UTSW 1 23,884,061 (GRCm39) missense probably benign 0.15
R8961:B3gat2 UTSW 1 23,801,900 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18