Incidental Mutation 'R4541:B4galt6'
ID 333555
Institutional Source Beutler Lab
Gene Symbol B4galt6
Ensembl Gene ENSMUSG00000056124
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6
Synonyms
MMRRC Submission 041777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4541 (G1)
Quality Score 184
Status Validated
Chromosome 18
Chromosomal Location 20817656-20879461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20878496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 10 (V10A)
Ref Sequence ENSEMBL: ENSMUSP00000066515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070080]
AlphaFold Q9WVK5
Predicted Effect probably benign
Transcript: ENSMUST00000070080
AA Change: V10A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: V10A

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 0.0702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (51/53)
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
2810021J22Rik C T 11: 58,769,676 (GRCm39) P73S probably benign Het
4930533L02Rik G A 7: 124,917,750 (GRCm39) noncoding transcript Het
Acot4 A T 12: 84,090,022 (GRCm39) I240F probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccnb3 T C X: 6,875,308 (GRCm39) T424A probably benign Het
Cd8a A T 6: 71,350,856 (GRCm39) D107V probably benign Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Ceacam12 G A 7: 17,805,648 (GRCm39) M278I probably benign Het
Cfap43 C T 19: 47,736,454 (GRCm39) V1346I probably benign Het
Clic5 C T 17: 44,552,956 (GRCm39) T70M probably damaging Het
Dbpht2 A T 12: 74,345,934 (GRCm39) noncoding transcript Het
Ddhd1 G A 14: 45,860,313 (GRCm39) R140* probably null Het
Evpl T G 11: 116,123,470 (GRCm39) I301L probably benign Het
Glul T A 1: 153,778,782 (GRCm39) Y30* probably null Het
Itgad A T 7: 127,797,287 (GRCm39) H878L probably benign Het
Kcnk10 A G 12: 98,402,536 (GRCm39) I301T probably damaging Het
Klhl14 A T 18: 21,687,696 (GRCm39) Y575* probably null Het
Mrps2 G T 2: 28,358,412 (GRCm39) probably benign Het
Mymx GCC GC 17: 45,912,519 (GRCm39) probably null Het
Napb G A 2: 148,551,229 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,171,706 (GRCm39) noncoding transcript Het
Or10g9b A C 9: 39,917,589 (GRCm39) S219A possibly damaging Het
Or4f15 A G 2: 111,813,981 (GRCm39) I146T probably benign Het
Piwil4 C A 9: 14,629,612 (GRCm39) M438I probably damaging Het
Pla2r1 C T 2: 60,258,082 (GRCm39) D1199N probably damaging Het
Pmpca T G 2: 26,280,201 (GRCm39) probably benign Het
Prkcq G T 2: 11,288,623 (GRCm39) M525I possibly damaging Het
Rnf225 T C 7: 12,662,520 (GRCm39) probably null Het
Sco1 G T 11: 66,943,668 (GRCm39) A50S probably benign Het
Slc12a2 T A 18: 58,046,037 (GRCm39) probably null Het
Slc36a1 T C 11: 55,112,849 (GRCm39) V148A probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Tbc1d10c G T 19: 4,239,473 (GRCm39) R96S probably damaging Het
Tbc1d2b A T 9: 90,087,222 (GRCm39) I919N probably damaging Het
Tcea1 T C 1: 4,963,659 (GRCm39) L233P probably damaging Het
Tlcd4 A G 3: 121,028,884 (GRCm39) M1T probably null Het
Tmem231 T C 8: 112,641,224 (GRCm39) T223A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tomm34 A G 2: 163,896,719 (GRCm39) Y243H probably benign Het
Tubgcp4 A T 2: 121,025,907 (GRCm39) N584I probably benign Het
Vldlr T C 19: 27,216,192 (GRCm39) C7R probably damaging Het
Vmn1r42 A T 6: 89,822,533 (GRCm39) M12K probably benign Het
Vsig10 C T 5: 117,490,881 (GRCm39) probably benign Het
Zfp974 C G 7: 27,625,829 (GRCm39) V14L 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
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
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'- ATGCTTTGGTTCAGCTTCCAAA -3'
(R):5'- CTTTGGCCTCCACCGAGC -3'

Sequencing Primer
(F):5'- GGTTCAGCTTCCAAACCCCTC -3'
(R):5'- AACACCCTTCCCGCTGC -3'
Posted On 2015-08-18