Incidental Mutation 'R5638:B3galt1'
ID 440475
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 043168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5638 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 67396215-67953033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67949095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 270 (L270P)
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: L270P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: L270P

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: L270P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: L270P

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,288,729 (GRCm39) A96T probably benign Het
A930018M24Rik T C 14: 51,134,414 (GRCm39) D76G possibly damaging Het
Adamtsl3 A T 7: 82,260,958 (GRCm39) R1631W probably damaging Het
Alg5 C T 3: 54,646,254 (GRCm39) H40Y probably benign Het
Ceacam3 A G 7: 16,893,860 (GRCm39) Y457C probably damaging Het
Cenpa A T 5: 30,830,736 (GRCm39) R124W probably damaging Het
Cfap44 A G 16: 44,275,894 (GRCm39) T1385A possibly damaging Het
Chd9 A T 8: 91,738,078 (GRCm39) H1570L possibly damaging Het
Cmtm4 T C 8: 105,084,356 (GRCm39) I113V probably benign Het
Dmxl1 T C 18: 50,024,693 (GRCm39) I1789T possibly damaging Het
Dpf3 G A 12: 83,371,714 (GRCm39) R174W probably damaging Het
Dusp26 T C 8: 31,584,169 (GRCm39) L92P probably damaging Het
Fndc7 T A 3: 108,770,208 (GRCm39) T659S possibly damaging Het
Fry A G 5: 150,282,546 (GRCm39) H357R possibly damaging Het
G0s2 A T 1: 192,954,859 (GRCm39) L75H probably damaging Het
Gm5493 A G 17: 22,969,065 (GRCm39) T82A probably benign Het
Herc2 T C 7: 55,854,164 (GRCm39) V3690A probably benign Het
Igf2bp3 C A 6: 49,064,734 (GRCm39) V537F probably damaging Het
Kntc1 C T 5: 123,956,538 (GRCm39) R2101W possibly damaging Het
Kpna2rt T C 17: 90,217,635 (GRCm39) E37G probably damaging Het
Mrgpra6 G T 7: 46,835,657 (GRCm39) P255T probably damaging Het
Ncor2 A G 5: 125,125,364 (GRCm39) V229A probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6c210 T A 10: 129,495,969 (GRCm39) I98K possibly damaging Het
Or7g21 T A 9: 19,032,676 (GRCm39) C142S probably benign Het
Ppt2 C A 17: 34,844,823 (GRCm39) M140I probably benign Het
Ppwd1 A G 13: 104,356,906 (GRCm39) I203T probably damaging Het
Prpf6 A G 2: 181,287,381 (GRCm39) T589A probably benign Het
Psd4 T C 2: 24,287,427 (GRCm39) L453P probably benign Het
Ptpn14 A G 1: 189,519,038 (GRCm39) T23A probably damaging Het
Rxrb T C 17: 34,256,381 (GRCm39) L374P probably damaging Het
Scaf4 T C 16: 90,041,198 (GRCm39) E710G unknown Het
Sik1 C T 17: 32,069,802 (GRCm39) V216I probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc30a5 T A 13: 100,950,380 (GRCm39) K236* probably null Het
Slc38a4 A C 15: 96,910,871 (GRCm39) S135A probably damaging Het
Slc9a1 T A 4: 133,139,571 (GRCm39) V263D probably damaging Het
Socs2 T C 10: 95,228,745 (GRCm39) I168M unknown Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sspo T C 6: 48,469,825 (GRCm39) S4508P possibly damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Stip1 G A 19: 7,009,883 (GRCm39) P213L probably damaging Het
Tarbp1 A T 8: 127,177,425 (GRCm39) L749Q probably damaging Het
Thsd7b T G 1: 129,523,270 (GRCm39) S24R probably benign Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vmn2r65 C T 7: 84,590,047 (GRCm39) C623Y probably damaging Het
Vps54 T C 11: 21,258,799 (GRCm39) V742A 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
R6364:B3galt1 UTSW 2 67,949,016 (GRCm39) missense probably damaging 1.00
R6960:B3galt1 UTSW 2 67,949,033 (GRCm39) missense probably damaging 0.98
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'- AGGGATGTCCGCAGTAAGTG -3'
(R):5'- TTGGTGACACCTGTAAATACCAAC -3'

Sequencing Primer
(F):5'- CCGCAGTAAGTGGTATATGCC -3'
(R):5'- ATAGAAGTCCTAACATCTCAGATGC -3'
Posted On 2016-11-08