Incidental Mutation 'IGL03388:B3gnt5'
ID 420940
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt5
Ensembl Gene ENSMUSG00000022686
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # IGL03388
Quality Score
Status
Chromosome 16
Chromosomal Location 19578958-19591503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19588801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 340 (K340R)
Ref Sequence ENSEMBL: ENSMUSP00000126157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079780] [ENSMUST00000119468] [ENSMUST00000121344] [ENSMUST00000164397]
AlphaFold Q8BGY6
Predicted Effect possibly damaging
Transcript: ENSMUST00000079780
AA Change: K340R

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: K340R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119468
AA Change: K340R

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: K340R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121344
AA Change: K340R

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: K340R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152845
Predicted Effect possibly damaging
Transcript: ENSMUST00000164397
AA Change: K340R

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: K340R

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 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 membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may show variable types of lethality or no lethality depending on the allele. Mice homozygous for 3 alleles show B cell abnormalities. Mice homozygous or heterozygous for 2 allele show reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,693,596 (GRCm39) probably benign Het
Ccr3 A G 9: 123,828,658 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,992 (GRCm39) probably benign Het
Clasp1 T A 1: 118,433,233 (GRCm39) D237E possibly damaging Het
Ddx18 T C 1: 121,493,652 (GRCm39) K111E possibly damaging Het
Defa21 T C 8: 21,515,764 (GRCm39) L54P probably damaging Het
Dennd3 T C 15: 73,416,208 (GRCm39) V486A probably damaging Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnm1l A G 16: 16,131,916 (GRCm39) probably benign Het
Epb41 T C 4: 131,702,105 (GRCm39) Y510C probably damaging Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Fmo1 A G 1: 162,663,716 (GRCm39) V271A probably benign Het
Gm12185 A G 11: 48,799,113 (GRCm39) V460A probably benign Het
Hspa8 T C 9: 40,716,224 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,356 (GRCm39) E166G probably damaging Het
Il31ra C A 13: 112,682,746 (GRCm39) S120I probably damaging Het
Kdm5b A G 1: 134,555,060 (GRCm39) T1323A probably benign Het
Lgals9 T A 11: 78,854,247 (GRCm39) I346F probably damaging Het
Lgi2 T C 5: 52,695,819 (GRCm39) D372G probably damaging Het
Magi3 A C 3: 103,923,157 (GRCm39) S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 (GRCm38) F203S probably benign Het
Nup210l G A 3: 90,077,351 (GRCm39) V896I probably damaging Het
Nxf7 T C X: 134,485,489 (GRCm39) K440E probably damaging Het
Or6c206 A T 10: 129,097,312 (GRCm39) I161F probably benign Het
Or9i1b T A 19: 13,896,984 (GRCm39) V200D probably damaging Het
Pcdhb6 T C 18: 37,469,190 (GRCm39) S20P probably damaging Het
Per2 G T 1: 91,372,511 (GRCm39) probably benign Het
Pi15 G A 1: 17,673,001 (GRCm39) A67T probably benign Het
Pnp2 A T 14: 51,200,995 (GRCm39) N160I probably damaging Het
Ppp1r12c A G 7: 4,485,069 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,561,093 (GRCm39) probably null Het
Rnf115 G A 3: 96,695,984 (GRCm39) V257M probably damaging Het
Rtkn T A 6: 83,127,071 (GRCm39) V346D probably benign Het
Rubcn A T 16: 32,661,938 (GRCm39) N427K probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sel1l2 A C 2: 140,105,284 (GRCm39) probably benign Het
Septin4 T A 11: 87,459,042 (GRCm39) L472* probably null Het
Slc5a5 A G 8: 71,342,972 (GRCm39) V196A probably benign Het
Sox13 A T 1: 133,316,686 (GRCm39) L207H probably damaging Het
Tmtc2 A G 10: 105,157,344 (GRCm39) probably benign Het
Trip12 T C 1: 84,720,907 (GRCm39) K1409R probably damaging Het
Ttn C T 2: 76,797,481 (GRCm39) A528T probably benign Het
Ubr4 T C 4: 139,142,343 (GRCm39) I1310T probably damaging Het
Ypel5 T C 17: 73,153,400 (GRCm39) F35L probably damaging Het
Zfp13 G T 17: 23,795,888 (GRCm39) R228S probably benign Het
Other mutations in B3gnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:B3gnt5 APN 16 19,587,963 (GRCm39) missense probably damaging 1.00
IGL01503:B3gnt5 APN 16 19,588,531 (GRCm39) missense probably damaging 1.00
IGL02623:B3gnt5 APN 16 19,588,360 (GRCm39) missense probably damaging 1.00
IGL02978:B3gnt5 APN 16 19,588,744 (GRCm39) missense probably damaging 1.00
IGL03355:B3gnt5 APN 16 19,587,903 (GRCm39) missense probably benign 0.01
R0180:B3gnt5 UTSW 16 19,587,850 (GRCm39) missense possibly damaging 0.48
R0973:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R0973:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R0974:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R1034:B3gnt5 UTSW 16 19,588,234 (GRCm39) missense probably damaging 1.00
R1435:B3gnt5 UTSW 16 19,587,924 (GRCm39) missense probably damaging 0.99
R1480:B3gnt5 UTSW 16 19,588,617 (GRCm39) missense probably damaging 1.00
R1533:B3gnt5 UTSW 16 19,588,364 (GRCm39) missense probably damaging 1.00
R1920:B3gnt5 UTSW 16 19,588,294 (GRCm39) missense probably benign 0.34
R3962:B3gnt5 UTSW 16 19,587,798 (GRCm39) missense probably benign 0.37
R3963:B3gnt5 UTSW 16 19,587,798 (GRCm39) missense probably benign 0.37
R4620:B3gnt5 UTSW 16 19,588,632 (GRCm39) missense probably benign 0.37
R4948:B3gnt5 UTSW 16 19,587,894 (GRCm39) missense probably benign
R4987:B3gnt5 UTSW 16 19,587,952 (GRCm39) missense probably damaging 1.00
R5027:B3gnt5 UTSW 16 19,588,444 (GRCm39) missense probably damaging 1.00
R6415:B3gnt5 UTSW 16 19,588,759 (GRCm39) missense probably damaging 1.00
R7027:B3gnt5 UTSW 16 19,588,740 (GRCm39) missense probably damaging 1.00
R7224:B3gnt5 UTSW 16 19,588,503 (GRCm39) missense probably benign 0.06
R7261:B3gnt5 UTSW 16 19,588,123 (GRCm39) missense probably damaging 1.00
R7369:B3gnt5 UTSW 16 19,588,410 (GRCm39) missense probably benign 0.00
R8818:B3gnt5 UTSW 16 19,588,347 (GRCm39) missense possibly damaging 0.53
Z1176:B3gnt5 UTSW 16 19,588,560 (GRCm39) nonsense probably null
Posted On 2016-08-02