Incidental Mutation 'IGL01359:B3gat2'
ID 75670
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 # IGL01359
Quality Score
Status
Chromosome 1
Chromosomal Location 23801007-23886946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23802301 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P59270
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: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,009,939 (GRCm39) I127N probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Grk3 C A 5: 113,085,626 (GRCm39) S370I probably damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nadsyn1 T C 7: 143,374,967 (GRCm39) I30V possibly damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or4f57 A T 2: 111,791,406 (GRCm39) M4K probably benign Het
Or52e8 T C 7: 104,625,193 (GRCm39) probably null Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in B3gat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:B3gat2 APN 1 23,884,209 (GRCm39) nonsense probably null
IGL02797:B3gat2 APN 1 23,854,360 (GRCm39) missense probably damaging 1.00
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 2013-10-07