Incidental Mutation 'IGL01359:B3gat2'
ID75670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gat2
Ensembl Gene ENSMUSG00000026156
Gene Namebeta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)
SynonymsGlcAT-S
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #IGL01359
Quality Score
Status
Chromosome1
Chromosomal Location23761753-23849158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23763220 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 196 (F196L)
Ref Sequence ENSEMBL: ENSMUSP00000117089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063663] [ENSMUST00000140583] [ENSMUST00000144602]
Predicted Effect probably damaging
Transcript: ENSMUST00000063663
AA Change: F196L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156
AA Change: F196L

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: F196L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117089
Gene: ENSMUSG00000026156
AA Change: F196L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Galnt4 T C 10: 99,109,597 Y395H probably damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Itih3 T A 14: 30,917,772 D364V probably damaging Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Slc26a11 A T 11: 119,363,431 M192L probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Usp25 G A 16: 77,059,253 A245T probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in B3gat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:B3gat2 APN 1 23845128 nonsense probably null
IGL02797:B3gat2 APN 1 23815279 missense probably damaging 1.00
IGL03100:B3gat2 APN 1 23763191 missense probably damaging 1.00
R2200:B3gat2 UTSW 1 23762792 missense probably benign 0.03
R5860:B3gat2 UTSW 1 23815319 nonsense probably null
R6271:B3gat2 UTSW 1 23815261 missense probably damaging 1.00
R6312:B3gat2 UTSW 1 23815467 nonsense probably null
R7185:B3gat2 UTSW 1 23763191 missense probably damaging 1.00
Posted On2013-10-07