Incidental Mutation 'IGL01503:B3gnt5'
ID 88955
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 # IGL01503
Quality Score
Status
Chromosome 16
Chromosomal Location 19578958-19591503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19588531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 250 (Y250S)
Ref Sequence ENSEMBL: ENSMUSP00000126157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079780] [ENSMUST00000119468] [ENSMUST00000121344] [ENSMUST00000164397]
AlphaFold Q8BGY6
Predicted Effect probably damaging
Transcript: ENSMUST00000079780
AA Change: Y250S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: Y250S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119468
AA Change: Y250S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: Y250S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121344
AA Change: Y250S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: Y250S

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 probably damaging
Transcript: ENSMUST00000164397
AA Change: Y250S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: Y250S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in B3gnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:B3gnt5 APN 16 19,587,963 (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
IGL03388:B3gnt5 APN 16 19,588,801 (GRCm39) missense possibly damaging 0.83
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 2013-12-03