Incidental Mutation 'IGL03100:B3gat2'
ID 418709
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: 0.496) question?
Stock # IGL03100
Quality Score
Status
Chromosome 1
Chromosomal Location 23801007-23886946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23802272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 186 (D186V)
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: D186V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156
AA Change: D186V

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: D186V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117089
Gene: ENSMUSG00000026156
AA Change: D186V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 253 3.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144602
SMART Domains Protein: ENSMUSP00000115870
Gene: ENSMUSG00000026156

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,208,527 (GRCm39) R233S probably benign Het
Abcc9 A T 6: 142,640,270 (GRCm39) W73R probably damaging Het
Ago1 A G 4: 126,336,964 (GRCm39) V247A probably benign Het
Anpep T A 7: 79,486,109 (GRCm39) T538S probably benign Het
Asb14 A G 14: 26,625,329 (GRCm39) K228R probably benign Het
Atp6v0d2 C T 4: 19,910,586 (GRCm39) probably null Het
Bmpr1a A T 14: 34,163,164 (GRCm39) probably benign Het
Carmil3 A G 14: 55,732,175 (GRCm39) D224G probably damaging Het
Cd6 T C 19: 10,770,303 (GRCm39) M463V probably benign Het
Clasp1 T C 1: 118,395,626 (GRCm39) I188T possibly damaging Het
Cldn17 G T 16: 88,303,489 (GRCm39) A80E probably damaging Het
Clptm1l A G 13: 73,760,509 (GRCm39) probably benign Het
Col6a5 A T 9: 105,814,512 (GRCm39) V500E unknown Het
Ctdspl2 C T 2: 121,809,394 (GRCm39) T115I probably benign Het
Dbh G T 2: 27,055,534 (GRCm39) A3S probably benign Het
Fgd4 A G 16: 16,295,383 (GRCm39) probably benign Het
Gm4952 T A 19: 12,602,083 (GRCm39) probably null Het
Grik4 A G 9: 42,461,751 (GRCm39) M551T probably damaging Het
Hecw2 T C 1: 53,870,815 (GRCm39) I1389V probably damaging Het
Hkdc1 T C 10: 62,253,608 (GRCm39) T58A probably benign Het
Kcnh2 T C 5: 24,527,682 (GRCm39) K890R probably damaging Het
Kif24 T C 4: 41,394,446 (GRCm39) H809R possibly damaging Het
Knl1 A G 2: 118,931,251 (GRCm39) E1989G probably damaging Het
Muc15 A G 2: 110,561,939 (GRCm39) D125G probably damaging Het
Ogdhl A T 14: 32,064,029 (GRCm39) M632L probably benign Het
Prkdc T C 16: 15,531,499 (GRCm39) I1374T probably benign Het
Psmd1 T A 1: 86,046,243 (GRCm39) N670K possibly damaging Het
Ryr1 T C 7: 28,804,018 (GRCm39) H590R probably damaging Het
Scara3 A C 14: 66,168,722 (GRCm39) H298Q probably damaging Het
Sirt3 T C 7: 140,445,030 (GRCm39) D256G probably damaging Het
Slc13a2 T C 11: 78,295,299 (GRCm39) Q158R probably damaging Het
Slco5a1 T A 1: 12,949,504 (GRCm39) T629S possibly damaging Het
Speer4f2 A G 5: 17,581,528 (GRCm39) K157E probably damaging Het
Srsf1 T A 11: 87,939,954 (GRCm39) D155E probably damaging Het
Tln2 C T 9: 67,203,019 (GRCm39) R534H probably damaging Het
Ttn A G 2: 76,591,992 (GRCm39) probably benign Het
Ube2m A G 7: 12,771,562 (GRCm39) L32P probably benign Het
Wdr24 T A 17: 26,044,681 (GRCm39) F179I possibly damaging Het
Zfp961 T C 8: 72,721,754 (GRCm39) *69Q probably null 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
IGL02797:B3gat2 APN 1 23,854,360 (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 2016-08-02