Incidental Mutation 'R6418:B3galnt1'
ID 518051
Institutional Source Beutler Lab
Gene Symbol B3galnt1
Ensembl Gene ENSMUSG00000043300
Gene Name UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1
Synonyms Mbrn 1, Globoside blood group, B3galt3, Brainiac 1
MMRRC Submission 044560-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6418 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 69481491-69506293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69482326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 312 (S312P)
Ref Sequence ENSEMBL: ENSMUSP00000058363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061826]
AlphaFold Q920V1
Predicted Effect probably damaging
Transcript: ENSMUST00000061826
AA Change: S312P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: S312P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 92 285 4.5e-68 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930507D05Rik C T 10: 62,285,441 (GRCm39) A55V unknown Het
Adra1b T G 11: 43,667,028 (GRCm39) D403A probably benign Het
Ankdd1b A T 13: 96,597,405 (GRCm39) L9Q probably damaging Het
Ankrd17 A T 5: 90,426,204 (GRCm39) S789R possibly damaging Het
C4bp C T 1: 130,583,750 (GRCm39) V73M probably damaging Het
Ccdc121rt2 T C 5: 112,598,019 (GRCm39) S189P probably benign Het
Cenpe T A 3: 134,957,305 (GRCm39) N1854K probably damaging Het
Chrm2 A C 6: 36,500,674 (GRCm39) Y177S probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Csad A G 15: 102,087,958 (GRCm39) S322P probably damaging Het
Depdc1b T G 13: 108,493,956 (GRCm39) Y115D probably damaging Het
Dnah17 T C 11: 118,020,023 (GRCm39) Y8C probably damaging Het
Dsg3 T C 18: 20,656,817 (GRCm39) probably null Het
Elf5 A G 2: 103,269,697 (GRCm39) T93A possibly damaging Het
Eogt C T 6: 97,122,353 (GRCm39) D27N possibly damaging Het
Fam118b T C 9: 35,146,633 (GRCm39) D78G probably damaging Het
Fhip2a T A 19: 57,370,166 (GRCm39) M470K probably benign Het
Frem3 A G 8: 81,337,781 (GRCm39) T25A probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Golm1 T C 13: 59,813,375 (GRCm39) Y32C probably damaging Het
Has1 A T 17: 18,070,207 (GRCm39) V238E probably damaging Het
Hkdc1 T C 10: 62,219,583 (GRCm39) R907G possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Krtap24-1 C T 16: 88,408,761 (GRCm39) V122I probably damaging Het
Lrrc10 T G 10: 116,881,616 (GRCm39) L97V probably damaging Het
Map3k20 T A 2: 72,232,457 (GRCm39) M371K probably benign Het
Mis18bp1 A T 12: 65,205,317 (GRCm39) M2K possibly damaging Het
Mob3b T A 4: 34,954,049 (GRCm39) probably null Het
Muc4 A G 16: 32,570,607 (GRCm39) T556A possibly damaging Het
Muc6 A C 7: 141,224,032 (GRCm39) probably benign Het
Ncapg A T 5: 45,839,158 (GRCm39) L519F probably damaging Het
Nfix A G 8: 85,453,778 (GRCm39) S265P probably benign Het
Or13p10 T A 4: 118,522,808 (GRCm39) F31L possibly damaging Het
Or4c121 T C 2: 89,023,823 (GRCm39) K185R probably damaging Het
Or4k49 T C 2: 111,494,817 (GRCm39) V82A probably benign Het
Or52e5 T C 7: 104,719,514 (GRCm39) L280P probably damaging Het
Or8g35 C A 9: 39,381,112 (GRCm39) K303N probably benign Het
Osgin2 T C 4: 16,006,410 (GRCm39) T95A probably benign Het
Parp4 T C 14: 56,858,108 (GRCm39) probably null Het
Pcdh7 G A 5: 57,879,046 (GRCm39) G867D probably damaging Het
Pcdhb22 T C 18: 37,652,959 (GRCm39) S476P possibly damaging Het
Phldb1 A G 9: 44,623,197 (GRCm39) I619T probably damaging Het
Ppp1r13l C T 7: 19,105,256 (GRCm39) R343C probably damaging Het
Rab2b T A 14: 52,506,164 (GRCm39) probably benign Het
Rims2 A T 15: 39,373,092 (GRCm39) E972V probably damaging Het
Slc26a9 G T 1: 131,686,228 (GRCm39) C337F probably benign Het
Spty2d1 A G 7: 46,647,751 (GRCm39) S393P probably damaging Het
Stkld1 A T 2: 26,831,093 (GRCm39) N90I possibly damaging Het
Svep1 T A 4: 58,053,126 (GRCm39) R3406S probably benign Het
Svil A T 18: 5,040,171 (GRCm39) D48V probably benign Het
Thsd7a T A 6: 12,555,081 (GRCm39) K268* probably null Het
Tmc6 A G 11: 117,661,326 (GRCm39) L618P probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Ube2q2l C A 6: 136,378,099 (GRCm39) D244Y probably damaging Het
Ubn1 A G 16: 4,899,791 (GRCm39) H1101R probably benign Het
Upf2 G A 2: 6,032,150 (GRCm39) V899I unknown Het
Ush2a A T 1: 188,360,763 (GRCm39) N2161I probably damaging Het
Usp25 A T 16: 76,859,330 (GRCm39) D276V probably damaging Het
Vmn2r68 T A 7: 84,882,915 (GRCm39) H279L probably benign Het
Vps13d G A 4: 144,818,850 (GRCm39) R3019W probably damaging Het
Vsig10 A T 5: 117,486,361 (GRCm39) E423D probably benign Het
Wdfy2 T A 14: 63,162,582 (GRCm39) F95I probably benign Het
Xrn1 A G 9: 95,915,763 (GRCm39) probably null Het
Zdhhc13 A G 7: 48,461,149 (GRCm39) T362A possibly damaging Het
Zfp984 C T 4: 147,845,703 (GRCm39) S2N probably benign Het
Other mutations in B3galnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0101:B3galnt1 UTSW 3 69,483,139 (GRCm39) missense probably benign 0.01
R0230:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R1580:B3galnt1 UTSW 3 69,483,040 (GRCm39) missense possibly damaging 0.95
R1628:B3galnt1 UTSW 3 69,482,961 (GRCm39) missense probably damaging 1.00
R1942:B3galnt1 UTSW 3 69,483,258 (GRCm39) start codon destroyed probably null 0.90
R5137:B3galnt1 UTSW 3 69,482,282 (GRCm39) missense probably benign 0.01
R6468:B3galnt1 UTSW 3 69,482,866 (GRCm39) missense probably damaging 1.00
R6473:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R7236:B3galnt1 UTSW 3 69,482,950 (GRCm39) missense probably benign 0.36
R7363:B3galnt1 UTSW 3 69,483,157 (GRCm39) missense probably damaging 1.00
R7501:B3galnt1 UTSW 3 69,482,632 (GRCm39) missense probably benign 0.17
R7819:B3galnt1 UTSW 3 69,483,108 (GRCm39) missense probably damaging 1.00
R7911:B3galnt1 UTSW 3 69,482,574 (GRCm39) missense probably damaging 1.00
R7999:B3galnt1 UTSW 3 69,482,548 (GRCm39) missense probably damaging 0.99
R8954:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R8964:B3galnt1 UTSW 3 69,482,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTAGGGAGCTCCATGAGTTTC -3'
(R):5'- CTACATTATGTCCGGCGACCTG -3'

Sequencing Primer
(F):5'- AGCTCCATGAGTTTCAGCCCAG -3'
(R):5'- CCCAGGGTCTACGAGATGATG -3'
Posted On 2018-05-24