Incidental Mutation 'R7236:B3galnt1'
ID 562806
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 045306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R7236 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 69481491-69506293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69482950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 104 (K104E)
Ref Sequence ENSEMBL: ENSMUSP00000058363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061826]
AlphaFold Q920V1
Predicted Effect probably benign
Transcript: ENSMUST00000061826
AA Change: K104E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: K104E

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 92 285 4.5e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cct2 A T 10: 116,897,464 (GRCm39) D93E probably benign Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fbxo34 T A 14: 47,767,841 (GRCm39) D451E probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Mrpl15 A T 1: 4,846,711 (GRCm39) N288K probably benign Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Ralgapb A G 2: 158,282,747 (GRCm39) D504G probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Tsc2 A T 17: 24,842,568 (GRCm39) M286K possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (GRCm39) probably null 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
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
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'- TGGGGCAAAACTCCATTACC -3'
(R):5'- CCCCACTACAATGTGATCGAG -3'

Sequencing Primer
(F):5'- TTACCCACCTGAAAGCCATAATGG -3'
(R):5'- TACAATGTGATCGAGCGCGTC -3'
Posted On 2019-06-26