Incidental Mutation 'R8884:B4galt6'
ID 677196
Institutional Source Beutler Lab
Gene Symbol B4galt6
Ensembl Gene ENSMUSG00000056124
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
Synonyms
MMRRC Submission 068690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R8884 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20817656-20879461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20822072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 307 (N307K)
Ref Sequence ENSEMBL: ENSMUSP00000066515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080]
AlphaFold Q9WVK5
Predicted Effect probably benign
Transcript: ENSMUST00000070080
AA Change: N307K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: N307K

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
Meta Mutation Damage Score 0.0697 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (65/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,354 (GRCm39) F168Y probably damaging Het
4932438H23Rik T C 16: 90,852,737 (GRCm39) Y133C probably damaging Het
Aasdh A G 5: 77,039,641 (GRCm39) S223P possibly damaging Het
Abca8a T C 11: 109,964,941 (GRCm39) D453G possibly damaging Het
Acsl6 T A 11: 54,236,728 (GRCm39) F541I probably damaging Het
Agfg1 A T 1: 82,860,110 (GRCm39) K326* probably null Het
Aldh1l2 T C 10: 83,344,541 (GRCm39) N448S probably benign Het
Alx4 A G 2: 93,473,355 (GRCm39) K118E possibly damaging Het
Atp9b T A 18: 80,838,562 (GRCm39) T451S Het
Cacna1s G A 1: 136,042,981 (GRCm39) M1569I probably benign Het
Cacng6 C T 7: 3,478,984 (GRCm39) T121I probably damaging Het
Cdc5l C A 17: 45,744,467 (GRCm39) probably benign Het
Cdh20 A T 1: 110,027,860 (GRCm39) D535V probably damaging Het
Chrnb3 T C 8: 27,883,946 (GRCm39) F228L possibly damaging Het
Clca3a1 A T 3: 144,719,757 (GRCm39) D404E probably benign Het
Commd8 G A 5: 72,325,514 (GRCm39) probably benign Het
Cpn1 T A 19: 43,954,615 (GRCm39) Q337L possibly damaging Het
Dctn6 T C 8: 34,557,933 (GRCm39) T180A probably benign Het
Ddx60 A G 8: 62,447,553 (GRCm39) E1180G possibly damaging Het
Dock4 T A 12: 40,856,884 (GRCm39) L1239Q probably damaging Het
Dop1b T C 16: 93,556,550 (GRCm39) I469T probably benign Het
Enpep A T 3: 129,115,052 (GRCm39) I240N possibly damaging Het
Fat3 G A 9: 15,941,280 (GRCm39) T1337I probably damaging Het
Fbxw13 T A 9: 109,010,469 (GRCm39) M390L probably benign Het
Fgr C T 4: 132,713,609 (GRCm39) P46S probably benign Het
Galnt1 T A 18: 24,400,641 (GRCm39) M249K probably benign Het
Gm40460 A T 7: 141,794,555 (GRCm39) C87* probably null Het
Hcn4 C T 9: 58,760,705 (GRCm39) R417C unknown Het
Insr T C 8: 3,205,679 (GRCm39) N1370S probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif14 G A 1: 136,414,089 (GRCm39) E722K Het
Larp6 G A 9: 60,620,682 (GRCm39) G65E Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Muc16 G A 9: 18,555,496 (GRCm39) T3599I unknown Het
Muc5b T C 7: 141,403,156 (GRCm39) F706L unknown Het
Nbea A T 3: 55,712,720 (GRCm39) M2119K probably benign Het
Or13a18 C T 7: 140,190,616 (GRCm39) P171L probably damaging Het
Or13a24 A T 7: 140,154,224 (GRCm39) T53S probably benign Het
Paip1 G A 13: 119,574,553 (GRCm39) V83I probably damaging Het
Pdcd1lg2 G T 19: 29,423,318 (GRCm39) probably null Het
Pde7a G A 3: 19,281,858 (GRCm39) A464V probably benign Het
Pfkfb2 A G 1: 130,634,213 (GRCm39) F155L probably damaging Het
Pimreg A G 11: 71,936,513 (GRCm39) D192G possibly damaging Het
Prkd3 T C 17: 79,282,193 (GRCm39) D320G probably damaging Het
Rgs7 A G 1: 174,980,730 (GRCm39) V98A probably benign Het
Ric3 C T 7: 108,637,688 (GRCm39) G356D probably benign Het
Rsph4a T C 10: 33,781,840 (GRCm39) probably benign Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sez6l T C 5: 112,622,910 (GRCm39) T214A probably damaging Het
Sipa1l1 T G 12: 82,409,871 (GRCm39) V595G probably damaging Het
Spata31h1 T A 10: 82,119,486 (GRCm39) H4508L probably damaging Het
Spta1 G T 1: 174,045,254 (GRCm39) probably null Het
Ssbp2 A G 13: 91,836,989 (GRCm39) probably benign Het
Syne1 T G 10: 5,181,822 (GRCm39) Q4171P possibly damaging Het
Tgfb2 G A 1: 186,364,907 (GRCm39) T232I probably damaging Het
Tmem175 A G 5: 108,794,327 (GRCm39) S486G probably benign Het
Tmprss15 A G 16: 78,821,657 (GRCm39) V466A probably benign Het
Treh C G 9: 44,595,800 (GRCm39) probably benign Het
Ttc14 A G 3: 33,854,696 (GRCm39) S8G unknown Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Vmn1r44 T C 6: 89,870,458 (GRCm39) L68P probably damaging Het
Vmn2r37 T G 7: 9,218,916 (GRCm39) L489F probably benign Het
Vmn2r52 T A 7: 9,892,734 (GRCm39) T802S probably damaging Het
Wsb2 T A 5: 117,508,769 (GRCm39) F68I probably benign Het
Zbtb8os T C 4: 129,236,924 (GRCm39) V113A probably benign Het
Zfp354a A T 11: 50,950,805 (GRCm39) probably benign 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
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
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'- GCCAGAGACCTTTGATTATGAAAG -3'
(R):5'- CTTTGGAACAGGTACGTCTCGG -3'

Sequencing Primer
(F):5'- TGACATCACACTCACCGT -3'
(R):5'- CGAGTGGCTTGGTAACTCAG -3'
Posted On 2021-08-02