Incidental Mutation 'IGL01013:B4galt6'
ID54075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galt6
Ensembl Gene ENSMUSG00000056124
Gene NameUDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL01013
Quality Score
Status
Chromosome18
Chromosomal Location20684599-20746404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20689013 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 308 (V308A)
Ref Sequence ENSEMBL: ENSMUSP00000066515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080]
Predicted Effect probably damaging
Transcript: ENSMUST00000070080
AA Change: V308A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: V308A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in B4galt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:B4galt6 APN 18 20700747 missense probably benign 0.00
H8786:B4galt6 UTSW 18 20688944 missense probably benign 0.10
PIT4515001:B4galt6 UTSW 18 20688467 missense probably benign 0.01
R0578:B4galt6 UTSW 18 20727956 splice site probably benign
R1259:B4galt6 UTSW 18 20706502 missense possibly damaging 0.82
R1471:B4galt6 UTSW 18 20745353 missense possibly damaging 0.50
R1487:B4galt6 UTSW 18 20706514 missense possibly damaging 0.81
R1689:B4galt6 UTSW 18 20706496 missense probably benign 0.05
R4541:B4galt6 UTSW 18 20745439 missense probably benign 0.04
R4845:B4galt6 UTSW 18 20688460 missense probably benign 0.20
R4968:B4galt6 UTSW 18 20727969 missense possibly damaging 0.81
R5379:B4galt6 UTSW 18 20689239 missense probably damaging 1.00
R5503:B4galt6 UTSW 18 20745352 critical splice donor site probably null
R6755:B4galt6 UTSW 18 20689329 missense probably benign 0.01
R7296:B4galt6 UTSW 18 20728042 missense probably damaging 0.99
Posted On2013-06-28