Incidental Mutation 'IGL02408:B3galt6'
ID 292192
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 # IGL02408
Quality Score
Status
Chromosome 4
Chromosomal Location 156073923-156077106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156076152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 308 (Y308N)
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 damaging
Transcript: ENSMUST00000052185
AA Change: Y308N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057521
Gene: ENSMUSG00000050796
AA Change: Y308N

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,621,130 (GRCm39) Y278C probably damaging Het
Abcd2 A G 15: 91,062,444 (GRCm39) L498P possibly damaging Het
Acot11 A G 4: 106,615,578 (GRCm39) F271S probably damaging Het
Acr T A 15: 89,454,217 (GRCm39) Y185N probably damaging Het
Adcy10 C T 1: 165,365,949 (GRCm39) R489C probably damaging Het
Arsb A G 13: 93,930,670 (GRCm39) T213A probably benign Het
Atg2a T A 19: 6,291,858 (GRCm39) C11* probably null Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Crat T A 2: 30,297,146 (GRCm39) D269V probably damaging Het
Crim1 T A 17: 78,623,083 (GRCm39) I427N possibly damaging Het
Dock3 T C 9: 106,790,298 (GRCm39) probably benign Het
Dsg1c T A 18: 20,407,776 (GRCm39) V374E probably damaging Het
Dtl A G 1: 191,273,352 (GRCm39) S519P probably benign Het
Fastkd1 C T 2: 69,532,945 (GRCm39) R474H probably benign Het
Fbxo10 T C 4: 45,058,361 (GRCm39) T459A possibly damaging Het
Frmd4b A G 6: 97,272,770 (GRCm39) L828P probably damaging Het
Gc T C 5: 89,593,255 (GRCm39) S55G probably benign Het
Gm6455 T G 5: 10,917,257 (GRCm39) noncoding transcript Het
Gnai2 T C 9: 107,493,393 (GRCm39) T280A probably benign Het
Hmgn2 A G 4: 133,693,260 (GRCm39) probably null Het
Jmjd1c G T 10: 67,062,161 (GRCm39) A1505S probably benign Het
Lrriq1 T C 10: 102,982,142 (GRCm39) K1393E probably benign Het
Mcam A G 9: 44,051,547 (GRCm39) N469D probably benign Het
Mrpl47 A G 3: 32,790,789 (GRCm39) probably null Het
Mslnl C T 17: 25,966,972 (GRCm39) A659V possibly damaging Het
Nlrp1a A G 11: 71,013,456 (GRCm39) V598A probably benign Het
Npff A T 15: 102,433,000 (GRCm39) L15Q probably null Het
Obsl1 G T 1: 75,481,890 (GRCm39) Q327K probably damaging Het
Or13a18 T C 7: 140,190,844 (GRCm39) V255A probably damaging Het
Or4c58 T A 2: 89,675,315 (GRCm39) M1L probably benign Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Or7e165 A T 9: 19,694,711 (GRCm39) Y94F probably benign Het
Or8b50 G A 9: 38,518,417 (GRCm39) G219S possibly damaging Het
Pdzd2 T A 15: 12,375,851 (GRCm39) H1428L probably benign Het
Phldb1 T C 9: 44,627,203 (GRCm39) E414G possibly damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Secisbp2l G T 2: 125,582,789 (GRCm39) S889* probably null Het
Setx T A 2: 29,023,942 (GRCm39) C133S probably damaging Het
Slc22a29 A C 19: 8,184,649 (GRCm39) S214A probably benign Het
Slc30a5 A C 13: 100,950,232 (GRCm39) L285R probably damaging Het
Taar7a T G 10: 23,868,500 (GRCm39) I294L probably benign Het
Tfap2b T A 1: 19,304,485 (GRCm39) F414I probably damaging Het
Trpc4ap A T 2: 155,512,989 (GRCm39) Y129N possibly damaging Het
Vmn2r94 T C 17: 18,473,523 (GRCm39) E501G probably benign Het
Xpot T C 10: 121,439,070 (GRCm39) H709R probably damaging Het
Zfhx3 T A 8: 109,682,004 (GRCm39) probably benign Het
Zscan22 T G 7: 12,640,426 (GRCm39) H223Q probably benign Het
Other mutations in B3galt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03013:B3galt6 APN 4 156,076,215 (GRCm39) nonsense probably null
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 2015-04-16