Incidental Mutation 'IGL02904:B3galt1'
ID 363724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galt1
Ensembl Gene ENSMUSG00000034780
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
Synonyms 6330417G03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02904
Quality Score
Status
Chromosome 2
Chromosomal Location 67396215-67953033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67949089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 268 (V268E)
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: V268E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: V268E

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: V268E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: V268E

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign 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
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
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
Posted On 2015-12-18