Incidental Mutation 'IGL03013:B3galt6'
ID 407860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galt6
Ensembl Gene ENSMUSG00000050796
Gene Name UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
Synonyms GalTII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # IGL03013
Quality Score
Status
Chromosome 4
Chromosomal Location 156073923-156077106 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 156076215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 287 (Q287*)
Ref Sequence ENSEMBL: ENSMUSP00000057521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000052185] [ENSMUST00000097734] [ENSMUST00000105578] [ENSMUST00000105579]
AlphaFold Q91Z92
Predicted Effect probably benign
Transcript: ENSMUST00000050078
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000052185
AA Change: Q287*
SMART Domains Protein: ENSMUSP00000057521
Gene: ENSMUSG00000050796
AA Change: Q287*

DomainStartEndE-ValueType
transmembrane domain 12 30 N/A INTRINSIC
Pfam:Galactosyl_T 65 256 1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097734
SMART Domains Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105578
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105579
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
C2 A G 17: 35,091,435 (GRCm39) V353A probably damaging Het
Cntnap2 A T 6: 47,072,483 (GRCm39) Y1017F possibly damaging Het
Copz1 T A 15: 103,204,995 (GRCm39) M118K probably benign Het
Dnm1 T C 2: 32,226,296 (GRCm39) N298D probably benign Het
Exog T C 9: 119,291,679 (GRCm39) S295P possibly damaging Het
Ext2 A T 2: 93,537,571 (GRCm39) probably benign Het
Garin5b A G 7: 4,761,632 (GRCm39) L360S probably benign Het
Gpatch8 T C 11: 102,399,023 (GRCm39) I70V unknown Het
Krt5 T A 15: 101,620,103 (GRCm39) I205L probably benign Het
Leng9 A G 7: 4,151,737 (GRCm39) V313A probably damaging Het
Macrod2 A G 2: 141,357,147 (GRCm39) I148V probably benign Het
Mapk14 G T 17: 28,947,323 (GRCm39) probably benign Het
Mfsd4b3-ps A T 10: 39,823,891 (GRCm39) M123K probably benign Het
Mmp8 A G 9: 7,561,690 (GRCm39) D205G probably benign Het
Muc5b A T 7: 141,417,665 (GRCm39) H3537L possibly damaging Het
Nde1 C T 16: 14,009,611 (GRCm39) P324L probably benign Het
Nlrp9b A T 7: 19,782,750 (GRCm39) H888L probably damaging Het
Npy2r A G 3: 82,447,819 (GRCm39) F319L probably damaging Het
Nup210 A G 6: 91,030,361 (GRCm39) V156A probably benign Het
Nxph2 T C 2: 23,289,945 (GRCm39) I99T probably benign Het
Parpbp A G 10: 87,975,840 (GRCm39) I91T probably damaging Het
Pld2 A G 11: 70,432,003 (GRCm39) Y75C probably damaging Het
Pramel12 A G 4: 143,144,037 (GRCm39) T128A possibly damaging Het
Pramel33 A T 5: 93,630,391 (GRCm39) S394T probably damaging Het
Prkcb C A 7: 122,226,905 (GRCm39) D630E probably damaging Het
Prl3c1 T C 13: 27,383,349 (GRCm39) V5A probably benign Het
Ro60 A G 1: 143,646,446 (GRCm39) S100P probably damaging Het
Sdcbp2 A G 2: 151,429,255 (GRCm39) T192A probably benign Het
Sema6a C T 18: 47,381,461 (GRCm39) A1046T probably benign Het
Serpinb3a A G 1: 106,973,813 (GRCm39) F366S probably damaging Het
Serpinb9d T A 13: 33,380,521 (GRCm39) W136R probably damaging Het
Smc2 G T 4: 52,442,280 (GRCm39) V66F probably damaging Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Syne2 C T 12: 75,976,111 (GRCm39) A1187V probably benign Het
Unc5cl G A 17: 48,772,049 (GRCm39) M442I possibly damaging Het
Other mutations in B3galt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:B3galt6 APN 4 156,076,152 (GRCm39) missense probably damaging 1.00
R3162:B3galt6 UTSW 4 156,076,464 (GRCm39) missense probably benign 0.12
R3162:B3galt6 UTSW 4 156,076,464 (GRCm39) missense probably benign 0.12
Z1088:B3galt6 UTSW 4 156,076,391 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02