Incidental Mutation 'R0101:B3galnt1'
ID 33187
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 038387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0101 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 69481491-69506293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69483139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 41 (Y41H)
Ref Sequence ENSEMBL: ENSMUSP00000058363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061826]
AlphaFold Q920V1
Predicted Effect probably benign
Transcript: ENSMUST00000061826
AA Change: Y41H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: Y41H

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 92 285 4.5e-68 PFAM
Meta Mutation Damage Score 0.1829 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,901,739 (GRCm39) D829N probably benign Het
Carmil3 A C 14: 55,735,212 (GRCm39) probably benign Het
Cdh17 A G 4: 11,771,341 (GRCm39) Q41R probably benign Het
Cep43 A T 17: 8,388,374 (GRCm39) S76C possibly damaging Het
Chrm2 G T 6: 36,501,430 (GRCm39) C429F probably damaging Het
Cplane1 T A 15: 8,250,444 (GRCm39) C1844S probably benign Het
Cyld T A 8: 89,444,928 (GRCm39) probably null Het
Cyp2d11 C A 15: 82,274,395 (GRCm39) probably benign Het
Dnah1 A G 14: 31,005,856 (GRCm39) Y2308H probably damaging Het
Dnajc27 T C 12: 4,139,142 (GRCm39) V60A probably benign Het
Dnmbp A G 19: 43,862,599 (GRCm39) V850A possibly damaging Het
Emcn A T 3: 137,047,001 (GRCm39) M1L possibly damaging Het
Epc1 A T 18: 6,462,998 (GRCm39) probably benign Het
Fbxo21 T C 5: 118,133,521 (GRCm39) L310P probably damaging Het
Filip1 A G 9: 79,726,810 (GRCm39) I603T probably benign Het
Fndc3b A G 3: 27,512,957 (GRCm39) V723A probably damaging Het
Gemin5 G A 11: 58,036,322 (GRCm39) P674S probably damaging Het
Gsk3a T C 7: 24,928,328 (GRCm39) D471G probably benign Het
Igbp1b G A 6: 138,634,658 (GRCm39) P262L probably damaging Het
Itga11 T C 9: 62,651,768 (GRCm39) L300S probably damaging Het
Itsn2 T C 12: 4,683,058 (GRCm39) probably benign Het
Lhcgr A G 17: 89,072,598 (GRCm39) S150P probably damaging Het
Man1a T C 10: 53,951,120 (GRCm39) M1V probably null Het
Mical2 C T 7: 111,936,074 (GRCm39) R892C possibly damaging Het
Mtus2 T C 5: 148,019,845 (GRCm39) S747P probably damaging Het
Mug1 A G 6: 121,861,206 (GRCm39) K1276E possibly damaging Het
Or1n1b A G 2: 36,780,138 (GRCm39) S241P probably damaging Het
Pfkfb4 C G 9: 108,839,711 (GRCm39) P260R probably benign Het
Prkca A T 11: 107,948,626 (GRCm39) L121Q probably damaging Het
Prpf40b T C 15: 99,204,681 (GRCm39) probably benign Het
Ripor2 T C 13: 24,864,615 (GRCm39) M215T probably damaging Het
Rpn1 A G 6: 88,070,769 (GRCm39) D213G possibly damaging Het
Rreb1 C A 13: 38,115,518 (GRCm39) P959Q probably benign Het
Sema5b T C 16: 35,483,472 (GRCm39) probably benign Het
Slc38a10 A G 11: 120,041,903 (GRCm39) M1T probably null Het
Slco1c1 G T 6: 141,477,236 (GRCm39) L11F probably damaging Het
Spef2 T C 15: 9,713,194 (GRCm39) T393A probably damaging Het
Srp54b A G 12: 55,302,405 (GRCm39) probably benign Het
St14 G T 9: 31,008,403 (GRCm39) N512K probably benign Het
Syce1l T A 8: 114,382,061 (GRCm39) S237T probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tamm41 A T 6: 115,009,207 (GRCm39) Y129N probably damaging Het
Tctn2 T C 5: 124,753,357 (GRCm39) noncoding transcript Het
Tpr T C 1: 150,285,053 (GRCm39) probably benign Het
Vsig10 T A 5: 117,473,134 (GRCm39) probably null Het
Zfp335 T C 2: 164,741,910 (GRCm39) K635R probably damaging Het
Zfp541 A G 7: 15,811,968 (GRCm39) Y207C probably damaging Het
Other mutations in B3galnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6418:B3galnt1 UTSW 3 69,482,326 (GRCm39) missense probably damaging 1.00
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'- TCATCCTCCAAGGACAGGGCTAAC -3'
(R):5'- CCTGTAGAACCTGTGCCTTCTGAAC -3'

Sequencing Primer
(F):5'- CCAAGTAACTCTAATGGCTTGTCTG -3'
(R):5'- AACTTCTCTGCTGCTGTGGATG -3'
Posted On 2013-05-09