Incidental Mutation 'IGL02322:B4gat1'
ID 288300
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 # IGL02322
Quality Score
Status
Chromosome 19
Chromosomal Location 5088854-5091159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5089155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 51 (P51T)
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: P51T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: P51T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,425,268 (GRCm39) A355V probably benign Het
Adam9 A G 8: 25,445,990 (GRCm39) V801A probably damaging Het
Ankrd36 T A 11: 5,564,619 (GRCm39) V479D possibly damaging Het
Arid5a C T 1: 36,358,497 (GRCm39) P423L probably benign Het
Atp13a4 T C 16: 29,258,920 (GRCm39) I650V probably benign Het
Caskin2 G A 11: 115,695,303 (GRCm39) T310M probably damaging Het
Ccdc121rt1 A G 1: 181,337,999 (GRCm39) S318P possibly damaging Het
Ccdc159 G T 9: 21,840,669 (GRCm39) V79L possibly damaging Het
Ccser2 A T 14: 36,631,086 (GRCm39) V18E probably damaging Het
Cct8l1 T C 5: 25,722,581 (GRCm39) V432A probably benign Het
Cdh11 A T 8: 103,374,151 (GRCm39) F529Y probably benign Het
Cep250 A G 2: 155,832,248 (GRCm39) E1370G probably damaging Het
Col22a1 C A 15: 71,694,502 (GRCm39) G717C unknown Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Ctrb1 A C 8: 112,415,951 (GRCm39) probably null Het
Cyp2b19 T C 7: 26,461,803 (GRCm39) S208P possibly damaging Het
Dnmt3l T A 10: 77,888,572 (GRCm39) I158N possibly damaging Het
Evi5l T C 8: 4,237,236 (GRCm39) probably benign Het
Fkbpl A G 17: 34,864,298 (GRCm39) E22G probably benign Het
Flnb T A 14: 7,894,676 (GRCm38) F825I probably damaging Het
Gjb6 A T 14: 57,361,732 (GRCm39) N176K probably damaging Het
Gpc2 G T 5: 138,274,499 (GRCm39) probably null Het
H1f7 T C 15: 98,154,757 (GRCm39) T131A possibly damaging Het
Il20 C T 1: 130,837,313 (GRCm39) C104Y probably damaging Het
Mgat5 A G 1: 127,310,722 (GRCm39) N212S probably benign Het
Olfm5 C T 7: 103,803,608 (GRCm39) G210D probably damaging Het
Olig2 T C 16: 91,023,546 (GRCm39) S87P probably benign Het
Or2y15 A G 11: 49,350,784 (GRCm39) S93G probably benign Het
Or4c121 T A 2: 89,023,806 (GRCm39) T191S probably damaging Het
Osbpl7 G T 11: 96,946,950 (GRCm39) A418S probably benign Het
Otog G T 7: 45,950,881 (GRCm39) R2551L probably benign Het
Oxt A T 2: 130,418,200 (GRCm39) N24I probably damaging Het
Pibf1 A G 14: 99,448,419 (GRCm39) Y626C probably damaging Het
Plekhh2 A T 17: 84,896,894 (GRCm39) K934* probably null Het
Pramel14 G A 4: 143,718,591 (GRCm39) probably benign Het
Prdm9 A T 17: 15,783,110 (GRCm39) N57K probably damaging Het
Rapsn A G 2: 90,872,251 (GRCm39) D195G possibly damaging Het
Rimbp3 T G 16: 17,029,479 (GRCm39) F968V probably benign Het
Rpgrip1 A G 14: 52,387,499 (GRCm39) N1047S possibly damaging Het
Slc35g1 C T 19: 38,389,013 (GRCm39) R107* probably null Het
Ssh2 A C 11: 77,307,239 (GRCm39) probably null Het
Tiparp C A 3: 65,439,441 (GRCm39) C70* probably null Het
Vmn2r110 A G 17: 20,794,197 (GRCm39) I824T probably damaging Het
Vmn2r78 T C 7: 86,570,687 (GRCm39) S402P probably damaging Het
Vps13c A G 9: 67,845,183 (GRCm39) E2089G probably benign Het
Xirp2 A T 2: 67,339,082 (GRCm39) H441L probably benign Het
Zdhhc3 C T 9: 122,929,542 (GRCm39) G31D probably benign Het
Zfp330 A G 8: 83,497,450 (GRCm39) L64S probably damaging Het
Other mutations in B4gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:B4gat1 APN 19 5,090,037 (GRCm39) missense probably damaging 1.00
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 2015-04-16