Incidental Mutation 'R9541:B4gat1'
ID 719901
Institutional Source Beutler Lab
Gene Symbol B4gat1
Ensembl Gene ENSMUSG00000047379
Gene Name beta-1,4-glucuronyltransferase 1
Synonyms 1500032M01Rik, iGNT, B3gnt1, B3gnt6, BETA3GNT1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9541 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5088854-5091159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5089896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 298 (P298S)
Ref Sequence ENSEMBL: ENSMUSP00000062016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053705] [ENSMUST00000116567]
AlphaFold Q8BWP8
Predicted Effect probably damaging
Transcript: ENSMUST00000053705
AA Change: P298S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: P298S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.1%
  • 20x: 96.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,801,079 (GRCm39) I450V probably benign Het
Adam21 T C 12: 81,607,724 (GRCm39) T13A probably benign Het
Adamts4 C A 1: 171,084,695 (GRCm39) P644H probably damaging Het
Ak9 C T 10: 41,243,173 (GRCm39) A689V Het
Ankhd1 G A 18: 36,757,697 (GRCm39) S209N Het
Anks1b A T 10: 90,412,947 (GRCm39) T32S probably benign Het
Atp13a4 G T 16: 29,241,544 (GRCm39) T708K Het
Btbd9 A G 17: 30,439,438 (GRCm39) L583P possibly damaging Het
Ciart C A 3: 95,788,527 (GRCm39) C104F possibly damaging Het
Coq5 T C 5: 115,417,901 (GRCm39) S44P probably benign Het
Dennd5b A G 6: 148,899,872 (GRCm39) V1175A probably benign Het
Filip1 T A 9: 79,727,135 (GRCm39) K495* probably null Het
Fscn2 G A 11: 120,258,771 (GRCm39) V439M probably damaging Het
Gcn1 A G 5: 115,754,416 (GRCm39) I2339V probably benign Het
Gmppa T A 1: 75,417,094 (GRCm39) S176R probably damaging Het
Gpatch3 G A 4: 133,305,595 (GRCm39) E277K probably benign Het
Hcn4 A G 9: 58,767,685 (GRCm39) D1082G probably damaging Het
Hdgfl2 T A 17: 56,405,976 (GRCm39) D487E unknown Het
Ifna14 A T 4: 88,490,010 (GRCm39) M9K probably null Het
Igkv4-81 A G 6: 68,967,925 (GRCm39) Y59H Het
Il2rb T A 15: 78,372,393 (GRCm39) N108I probably benign Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Kdm5d T G Y: 910,801 (GRCm39) C304W probably damaging Het
Khnyn T C 14: 56,124,109 (GRCm39) I121T possibly damaging Het
Lmcd1 A T 6: 112,306,824 (GRCm39) H332L probably damaging Het
Lrp1b T C 2: 41,234,600 (GRCm39) D1117G Het
Med25 A G 7: 44,541,267 (GRCm39) V82A possibly damaging Het
Mindy2 G A 9: 70,512,508 (GRCm39) R581C possibly damaging Het
Mindy3 T C 2: 12,391,449 (GRCm39) T257A probably damaging Het
Myo1e A T 9: 70,204,628 (GRCm39) Y76F probably damaging Het
Npas2 A T 1: 39,377,194 (GRCm39) I519F possibly damaging Het
Or2h2c C T 17: 37,422,824 (GRCm39) D17N probably benign Het
Or4f52 T A 2: 111,061,275 (GRCm39) T288S probably damaging Het
Or5ak25 T A 2: 85,269,025 (GRCm39) H159L possibly damaging Het
Otx1 A G 11: 21,947,052 (GRCm39) F86L probably damaging Het
Pcm1 A G 8: 41,780,616 (GRCm39) D1856G probably benign Het
Pcsk7 G A 9: 45,820,768 (GRCm39) E67K probably benign Het
Pkd2 A G 5: 104,607,927 (GRCm39) Y142C probably damaging Het
Ptpre A G 7: 135,266,740 (GRCm39) D236G probably benign Het
Rasd2 T C 8: 75,945,200 (GRCm39) C10R probably benign Het
Rd3 C A 1: 191,717,294 (GRCm39) R140S possibly damaging Het
Rusc1 T G 3: 88,998,922 (GRCm39) T287P possibly damaging Het
Slc22a7 T C 17: 46,749,084 (GRCm39) S78G probably damaging Het
Sltm A T 9: 70,481,057 (GRCm39) H303L unknown Het
Syne4 G A 7: 30,016,343 (GRCm39) V228I probably benign Het
Timm22 T A 11: 76,300,641 (GRCm39) C138S possibly damaging Het
Trib2 T A 12: 15,866,827 (GRCm39) I15L unknown Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tyro3 T C 2: 119,642,589 (GRCm39) V591A possibly damaging Het
Vmn2r69 A G 7: 85,056,209 (GRCm39) V643A probably benign Het
Zfp281 G T 1: 136,555,303 (GRCm39) Q760H probably damaging Het
Other mutations in B4gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:B4gat1 APN 19 5,090,037 (GRCm39) missense probably damaging 1.00
IGL02322:B4gat1 APN 19 5,089,155 (GRCm39) missense possibly damaging 0.92
IGL02339:B4gat1 APN 19 5,089,446 (GRCm39) missense probably benign
IGL02717:B4gat1 APN 19 5,088,997 (GRCm39) unclassified probably benign
R0063:B4gat1 UTSW 19 5,089,735 (GRCm39) nonsense probably null
R0827:B4gat1 UTSW 19 5,089,725 (GRCm39) missense possibly damaging 0.65
R5888:B4gat1 UTSW 19 5,089,560 (GRCm39) missense probably benign 0.38
R5901:B4gat1 UTSW 19 5,089,241 (GRCm39) nonsense probably null
R6535:B4gat1 UTSW 19 5,089,558 (GRCm39) missense possibly damaging 0.54
R6988:B4gat1 UTSW 19 5,090,462 (GRCm39) missense probably benign 0.00
R7342:B4gat1 UTSW 19 5,089,686 (GRCm39) missense probably benign 0.03
R8967:B4gat1 UTSW 19 5,089,678 (GRCm39) missense probably damaging 1.00
R9057:B4gat1 UTSW 19 5,089,056 (GRCm39) missense possibly damaging 0.70
R9572:B4gat1 UTSW 19 5,089,474 (GRCm39) missense probably damaging 1.00
R9719:B4gat1 UTSW 19 5,090,516 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTACGCCCTGGTGATTGATG -3'
(R):5'- AAGTACCTGGCTGATTCGATTG -3'

Sequencing Primer
(F):5'- ATGTGGACATGGTGCCCAG -3'
(R):5'- GTACCTGGCTGATTCGATTGAAACC -3'
Posted On 2022-07-18