Incidental Mutation 'R6960:B3galt1'
ID 541690
Institutional Source Beutler Lab
Gene Symbol B3galt1
Ensembl Gene ENSMUSG00000034780
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
Synonyms 6330417G03Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 67396215-67953033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67949033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 249 (E249D)
Ref Sequence ENSEMBL: ENSMUSP00000107965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042456] [ENSMUST00000112346] [ENSMUST00000180887]
AlphaFold O54904
Predicted Effect probably damaging
Transcript: ENSMUST00000042456
AA Change: E249D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: E249D

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Galactosyl_T 92 283 5.4e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112346
AA Change: E249D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: E249D

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Galactosyl_T 92 283 6.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180887
SMART Domains Protein: ENSMUSP00000137947
Gene: ENSMUSG00000034780

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in B3galt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:B3galt1 APN 2 67,948,320 (GRCm39) missense possibly damaging 0.94
IGL00834:B3galt1 APN 2 67,949,050 (GRCm39) missense probably damaging 1.00
IGL02555:B3galt1 APN 2 67,948,905 (GRCm39) missense probably benign 0.41
IGL02678:B3galt1 APN 2 67,949,254 (GRCm39) missense probably benign 0.28
IGL02904:B3galt1 APN 2 67,949,089 (GRCm39) missense probably damaging 0.99
IGL02931:B3galt1 APN 2 67,948,728 (GRCm39) missense probably damaging 1.00
IGL03231:B3galt1 APN 2 67,948,947 (GRCm39) missense probably damaging 1.00
R0483:B3galt1 UTSW 2 67,948,932 (GRCm39) missense probably benign
R0735:B3galt1 UTSW 2 67,948,923 (GRCm39) missense possibly damaging 0.46
R4946:B3galt1 UTSW 2 67,948,913 (GRCm39) missense possibly damaging 0.91
R5327:B3galt1 UTSW 2 67,949,112 (GRCm39) missense probably damaging 1.00
R5638:B3galt1 UTSW 2 67,949,095 (GRCm39) missense probably damaging 0.99
R6364:B3galt1 UTSW 2 67,949,016 (GRCm39) missense probably damaging 1.00
R7578:B3galt1 UTSW 2 67,948,896 (GRCm39) missense probably damaging 1.00
R8112:B3galt1 UTSW 2 67,948,702 (GRCm39) missense probably damaging 1.00
R8115:B3galt1 UTSW 2 67,948,320 (GRCm39) missense possibly damaging 0.83
R8196:B3galt1 UTSW 2 67,948,530 (GRCm39) missense probably benign 0.14
R8846:B3galt1 UTSW 2 67,948,717 (GRCm39) missense probably benign 0.03
R8924:B3galt1 UTSW 2 67,949,059 (GRCm39) missense probably benign 0.11
R9062:B3galt1 UTSW 2 67,948,890 (GRCm39) missense
R9104:B3galt1 UTSW 2 67,948,406 (GRCm39) missense probably benign
Z1177:B3galt1 UTSW 2 67,948,334 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCATGAAAACCGACAGTG -3'
(R):5'- CTTCTGGAGAGATCTGGTGGAC -3'

Sequencing Primer
(F):5'- CCGACAGTGACATTTTTGTGAAC -3'
(R):5'- CTGGTGGACAGTGATGACGC -3'
Posted On 2018-11-28