Incidental Mutation 'IGL01322:B4gat1'
ID 74098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4gat1
Ensembl Gene ENSMUSG00000047379
Gene Name beta-1,4-glucuronyltransferase 1
Synonyms 1500032M01Rik, iGNT, B3gnt1, B3gnt6, BETA3GNT1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01322
Quality Score
Status
Chromosome 19
Chromosomal Location 5088854-5091159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5090037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 345 (Y345H)
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: Y345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: Y345H

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in B4gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9541:B4gat1 UTSW 19 5,089,896 (GRCm39) missense probably damaging 0.97
R9572:B4gat1 UTSW 19 5,089,474 (GRCm39) missense probably damaging 1.00
R9719:B4gat1 UTSW 19 5,090,516 (GRCm39) missense probably benign
Posted On 2013-10-07