Incidental Mutation 'IGL02260:B4galt6'
ID 286708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galt6
Ensembl Gene ENSMUSG00000056124
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02260
Quality Score
Status
Chromosome 18
Chromosomal Location 20817656-20879461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20833804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 194 (I194V)
Ref Sequence ENSEMBL: ENSMUSP00000066515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080]
AlphaFold Q9WVK5
Predicted Effect probably benign
Transcript: ENSMUST00000070080
AA Change: I194V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: I194V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 108 243 3.3e-56 PFAM
Pfam:Glyco_transf_7C 247 325 2e-28 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 is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype with reduced lactosylceramide synthase in MEFs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,754,891 (GRCm39) A663V probably benign Het
Atg2b A T 12: 105,602,699 (GRCm39) probably benign Het
Caprin1 T C 2: 103,609,714 (GRCm39) Y188C probably damaging Het
Ccdc85a A G 11: 28,526,672 (GRCm39) F284S possibly damaging Het
Ccdc88b A T 19: 6,832,717 (GRCm39) probably benign Het
Cox18 C T 5: 90,365,384 (GRCm39) V272I possibly damaging Het
Dars1 A T 1: 128,299,898 (GRCm39) M362K probably benign Het
Ddi1 A T 9: 6,265,760 (GRCm39) M203K probably benign Het
Dlg4 G A 11: 69,933,093 (GRCm39) G500R probably damaging Het
Ebf3 G A 7: 136,807,919 (GRCm39) P375S probably damaging Het
Eif5b T A 1: 38,084,537 (GRCm39) L842M possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gm5581 T C 6: 131,144,909 (GRCm39) noncoding transcript Het
Mapk10 A T 5: 103,186,534 (GRCm39) D29E probably benign Het
Mib2 C T 4: 155,745,628 (GRCm39) R61H probably damaging Het
Mki67 A G 7: 135,303,697 (GRCm39) S724P probably benign Het
Mtor T C 4: 148,622,758 (GRCm39) I1946T probably damaging Het
Myh14 A G 7: 44,260,995 (GRCm39) L1873P probably damaging Het
Myom1 C T 17: 71,415,310 (GRCm39) Q1226* probably null Het
Neb A G 2: 52,095,668 (GRCm39) L4858P probably damaging Het
Or51f5 A T 7: 102,424,114 (GRCm39) I128F probably damaging Het
Or5m9b C A 2: 85,905,816 (GRCm39) T244K possibly damaging Het
Or5p76 T C 7: 108,122,492 (GRCm39) I222V probably benign Het
Pcdhb14 C T 18: 37,583,086 (GRCm39) H731Y probably benign Het
Prdm16 T C 4: 154,412,744 (GRCm39) N1087S probably benign Het
Prdm2 C T 4: 142,861,157 (GRCm39) G711D probably damaging Het
Proser1 G A 3: 53,386,365 (GRCm39) G749D probably damaging Het
Ptch1 A T 13: 63,713,166 (GRCm39) probably benign Het
Pus10 A T 11: 23,657,548 (GRCm39) K233* probably null Het
Rasa2 A G 9: 96,426,372 (GRCm39) Y825H probably benign Het
Tbcd T C 11: 121,494,104 (GRCm39) F969S probably damaging Het
Tbp T A 17: 15,724,878 (GRCm39) S133T probably damaging Het
Tnks C T 8: 35,310,137 (GRCm39) G1062D probably damaging Het
Tnrc6b T A 15: 80,764,372 (GRCm39) S625T probably damaging Het
Triobp T C 15: 78,850,562 (GRCm39) S239P probably benign Het
Ubiad1 T C 4: 148,528,564 (GRCm39) D115G probably benign Het
Uckl1 A G 2: 181,211,381 (GRCm39) S483P probably damaging Het
Vill A G 9: 118,887,509 (GRCm39) D91G probably benign Het
Wdr62 C A 7: 29,970,207 (GRCm39) C200F probably damaging Het
Zfp341 G A 2: 154,483,969 (GRCm39) C586Y possibly damaging Het
Zfp687 G A 3: 94,918,575 (GRCm39) T399I possibly damaging Het
Zp1 G T 19: 10,894,078 (GRCm39) probably benign Het
Zzz3 T A 3: 152,157,720 (GRCm39) D263E probably benign Het
Other mutations in B4galt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:B4galt6 APN 18 20,822,070 (GRCm39) missense probably damaging 0.98
H8786:B4galt6 UTSW 18 20,822,001 (GRCm39) missense probably benign 0.10
PIT4515001:B4galt6 UTSW 18 20,821,524 (GRCm39) missense probably benign 0.01
R0578:B4galt6 UTSW 18 20,861,013 (GRCm39) splice site probably benign
R1259:B4galt6 UTSW 18 20,839,559 (GRCm39) missense possibly damaging 0.82
R1471:B4galt6 UTSW 18 20,878,410 (GRCm39) missense possibly damaging 0.50
R1487:B4galt6 UTSW 18 20,839,571 (GRCm39) missense possibly damaging 0.81
R1689:B4galt6 UTSW 18 20,839,553 (GRCm39) missense probably benign 0.05
R4541:B4galt6 UTSW 18 20,878,496 (GRCm39) missense probably benign 0.04
R4845:B4galt6 UTSW 18 20,821,517 (GRCm39) missense probably benign 0.20
R4968:B4galt6 UTSW 18 20,861,026 (GRCm39) missense possibly damaging 0.81
R5379:B4galt6 UTSW 18 20,822,296 (GRCm39) missense probably damaging 1.00
R5503:B4galt6 UTSW 18 20,878,409 (GRCm39) critical splice donor site probably null
R6755:B4galt6 UTSW 18 20,822,386 (GRCm39) missense probably benign 0.01
R7296:B4galt6 UTSW 18 20,861,099 (GRCm39) missense probably damaging 0.99
R8726:B4galt6 UTSW 18 20,821,450 (GRCm39) missense possibly damaging 0.86
R8884:B4galt6 UTSW 18 20,822,072 (GRCm39) missense probably benign
R8929:B4galt6 UTSW 18 20,821,422 (GRCm39) missense possibly damaging 0.62
R9282:B4galt6 UTSW 18 20,825,509 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16