Incidental Mutation 'IGL02931:B3galt1'
ID 364109
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 # IGL02931
Quality Score
Status
Chromosome 2
Chromosomal Location 67396215-67953033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67948728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 148 (S148P)
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: S148P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: S148P

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: S148P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: S148P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L 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
IGL02904:B3galt1 APN 2 67,949,089 (GRCm39) missense probably damaging 0.99
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