Incidental Mutation 'R1259:B4galt6'
ID 151565
Institutional Source Beutler Lab
Gene Symbol B4galt6
Ensembl Gene ENSMUSG00000056124
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
Synonyms
MMRRC Submission 039326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R1259 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20817656-20879461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 20839559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 125 (E125A)
Ref Sequence ENSEMBL: ENSMUSP00000066515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080]
AlphaFold Q9WVK5
Predicted Effect possibly damaging
Transcript: ENSMUST00000070080
AA Change: E125A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: E125A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,021,684 (GRCm39) D602V probably benign Het
Adam26a T C 8: 44,021,750 (GRCm39) D580G possibly damaging Het
Dnm1l A G 16: 16,141,870 (GRCm39) I292T possibly damaging Het
Elp3 A T 14: 65,785,388 (GRCm39) I471K probably damaging Het
Fbxw13 A T 9: 109,014,439 (GRCm39) V83E probably damaging Het
Gm5422 T C 10: 31,125,111 (GRCm39) noncoding transcript Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Lpcat2b C T 5: 107,581,763 (GRCm39) A364V probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Lypd9 A G 11: 58,338,296 (GRCm39) I32T probably benign Het
Med7 C G 11: 46,331,460 (GRCm39) I18M probably damaging Het
Muc6 T A 7: 141,226,464 (GRCm39) probably benign Het
Or8b42 T A 9: 38,342,169 (GRCm39) L197Q probably damaging Het
Or8k16 T A 2: 85,519,875 (GRCm39) I34N probably damaging Het
Pbrm1 T C 14: 30,796,771 (GRCm39) F871L probably damaging Het
Pgbd5 T A 8: 125,097,324 (GRCm39) D493V probably damaging Het
Pik3cd G A 4: 149,735,105 (GRCm39) R1046* probably null Het
Pom121l2 G A 13: 22,166,297 (GRCm39) W189* probably null Het
Prex2 C A 1: 11,359,494 (GRCm39) N1567K probably damaging Het
Prl A G 13: 27,245,472 (GRCm39) probably null Het
Ptpro T C 6: 137,369,739 (GRCm39) V517A probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Vmn2r12 T A 5: 109,239,763 (GRCm39) I267F probably damaging Het
Wasf3 T C 5: 146,388,786 (GRCm39) V80A probably damaging Het
Other mutations in B4galt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:B4galt6 APN 18 20,822,070 (GRCm39) missense probably damaging 0.98
IGL02260:B4galt6 APN 18 20,833,804 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGGACCCAACTGAAAACAAGG -3'
(R):5'- AGGAGTAGCCCATACTGTCCATCAC -3'

Sequencing Primer
(F):5'- CTCTCAGTTCCAGAAACTGGTGG -3'
(R):5'- ATCACTCTGTGACTGATGCTG -3'
Posted On 2014-01-29