Incidental Mutation 'R6535:B4gat1'
ID 520371
Institutional Source Beutler Lab
Gene Symbol B4gat1
Ensembl Gene ENSMUSG00000047379
Gene Name beta-1,4-glucuronyltransferase 1
Synonyms B3gnt1, B3gnt6, iGNT, 1500032M01Rik, BETA3GNT1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5038826-5041134 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5039530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 185 (V185A)
Ref Sequence ENSEMBL: ENSMUSP00000062016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053705] [ENSMUST00000116567]
AlphaFold Q8BWP8
Predicted Effect possibly damaging
Transcript: ENSMUST00000053705
AA Change: V185A

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: V185A

transmembrane domain 7 29 N/A INTRINSIC
low complexity region 39 49 N/A INTRINSIC
Pfam:Glyco_transf_49 94 409 3.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116567
SMART Domains Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

low complexity region 29 59 N/A INTRINSIC
Pfam:Sds3 60 209 5.3e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers. Mice homozygous for a hypomorphic allele exhibit mild muscular dystrophy, abnormal axon guidance and fasciculation and abnormal dorsal funiculus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,440,029 S495N probably benign Het
Ank3 G T 10: 69,877,854 A448S probably damaging Het
Apobec3 A G 15: 79,897,749 *47W probably null Het
Cers1 T A 8: 70,330,154 V58D probably damaging Het
Chrm1 T A 19: 8,679,073 Y381N possibly damaging Het
Cpne6 A T 14: 55,513,665 E177V probably benign Het
Cpt1a T A 19: 3,365,788 probably null Het
Ctsq A T 13: 61,035,326 I334N probably damaging Het
D730001G18Rik T C 15: 74,772,225 S81G probably damaging Het
Dennd6b A G 15: 89,186,367 L400P probably damaging Het
Fam135b A G 15: 71,622,075 S2P probably damaging Het
Gm20767 T C 13: 120,154,654 S10P probably damaging Het
Hip1 T C 5: 135,428,497 probably null Het
Lama2 A C 10: 27,104,131 L1896R probably damaging Het
Macf1 A T 4: 123,471,935 V3011D possibly damaging Het
Macrod1 A G 19: 7,057,147 D86G probably damaging Het
Mettl8 G T 2: 70,973,389 H185N possibly damaging Het
Mipol1 A C 12: 57,306,100 Q75P possibly damaging Het
Pi4ka C T 16: 17,301,036 V125M probably damaging Het
Pole A C 5: 110,324,807 Y1618S probably damaging Het
Prrc2a A G 17: 35,162,265 V21A unknown Het
Rhbdl1 A T 17: 25,835,825 Y111* probably null Het
Sbk3 A C 7: 4,969,841 M110R possibly damaging Het
Scn8a G A 15: 100,959,707 probably benign Het
Tshz3 T C 7: 36,768,789 S68P probably damaging Het
Vmn1r88 C T 7: 13,178,185 T156I probably benign Het
Wrn T C 8: 33,336,103 H177R probably damaging Het
Other mutations in B4gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:B4gat1 APN 19 5040009 missense probably damaging 1.00
IGL02322:B4gat1 APN 19 5039127 missense possibly damaging 0.92
IGL02339:B4gat1 APN 19 5039418 missense probably benign
IGL02717:B4gat1 APN 19 5038969 unclassified probably benign
R0063:B4gat1 UTSW 19 5039707 nonsense probably null
R0827:B4gat1 UTSW 19 5039697 missense possibly damaging 0.65
R5888:B4gat1 UTSW 19 5039532 missense probably benign 0.38
R5901:B4gat1 UTSW 19 5039213 nonsense probably null
R6988:B4gat1 UTSW 19 5040434 missense probably benign 0.00
R7342:B4gat1 UTSW 19 5039658 missense probably benign 0.03
R8967:B4gat1 UTSW 19 5039650 missense probably damaging 1.00
R9057:B4gat1 UTSW 19 5039028 missense possibly damaging 0.70
R9541:B4gat1 UTSW 19 5039868 missense probably damaging 0.97
R9572:B4gat1 UTSW 19 5039446 missense probably damaging 1.00
R9719:B4gat1 UTSW 19 5040488 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-06-06