Incidental Mutation 'IGL02931:B3galt1'
ID364109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galt1
Ensembl Gene ENSMUSG00000034780
Gene NameUDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
Synonyms6330417G03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02931
Quality Score
Status
Chromosome2
Chromosomal Location67565871-68122689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 68118384 bp
ZygosityHeterozygous
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]
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: 7,079,012 R254Q probably benign Het
Adgrv1 T C 13: 81,579,714 Y269C probably damaging Het
Apol7a C A 15: 77,393,450 E33* probably null Het
Arhgap29 T C 3: 121,992,860 V358A probably benign Het
BC061237 A G 14: 44,503,322 N60D possibly damaging Het
Bcl9l C T 9: 44,500,750 P11L probably damaging Het
Ccdc89 A C 7: 90,426,902 K107Q probably benign Het
Col27a1 T C 4: 63,331,426 probably benign Het
Col5a2 T C 1: 45,385,065 D1067G probably damaging Het
Col9a2 A T 4: 121,053,192 R511S probably benign Het
Disp3 G A 4: 148,249,201 S1060F possibly damaging Het
Dusp8 T C 7: 142,082,930 T308A probably benign Het
Ern1 T C 11: 106,423,440 N178S probably damaging Het
Gas6 C A 8: 13,477,136 C204F probably damaging Het
Gga1 T C 15: 78,893,322 S558P possibly damaging Het
Gli1 T C 10: 127,332,410 T525A probably benign Het
Gm428 G A 4: 73,687,365 A338T probably damaging Het
Gse1 A G 8: 120,578,069 probably benign Het
Hmcn1 G A 1: 150,657,207 S3075L probably benign Het
Hnf4a G A 2: 163,566,117 probably benign Het
Htt A T 5: 34,876,753 E1894D probably damaging Het
Kcnh8 G A 17: 52,956,622 E716K probably benign Het
Kntc1 A G 5: 123,799,811 Y1524C probably damaging Het
Krtap9-5 A G 11: 99,949,105 T211A unknown Het
Lin54 T C 5: 100,480,321 I8V possibly damaging Het
Lipe A G 7: 25,383,335 probably benign Het
Lpin2 T A 17: 71,238,683 V508E probably damaging Het
Lrrc9 C A 12: 72,454,149 H216Q probably damaging Het
Lrrn1 T C 6: 107,567,748 L169P probably damaging Het
Map9 C A 3: 82,377,121 T334K possibly damaging Het
Mst1 A T 9: 108,084,642 probably null Het
Mtor T A 4: 148,464,964 F602I probably benign Het
Mylpf T A 7: 127,213,626 D98E probably benign Het
Naca C A 10: 128,047,682 Q2059K probably damaging Het
Nefh G A 11: 4,941,356 T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 noncoding transcript Het
Npat C T 9: 53,571,041 Q1350* probably null Het
Oaz3 T C 3: 94,434,980 N123S probably benign Het
Patj A G 4: 98,411,173 probably benign Het
Piezo1 A C 8: 122,483,519 D2224E probably damaging Het
Pnpla7 A T 2: 25,015,229 I610F possibly damaging Het
Psapl1 A T 5: 36,204,889 D275V probably damaging Het
Ptpdc1 T A 13: 48,590,619 probably benign Het
Rac2 T C 15: 78,570,747 E31G possibly damaging Het
Sdhc T C 1: 171,143,555 probably benign Het
Smim23 G T 11: 32,820,667 P80T probably damaging Het
Snupn C T 9: 56,957,080 T21I probably benign Het
Tjp2 A G 19: 24,096,632 V1097A probably benign Het
Tmem8 T A 17: 26,117,949 F280L probably benign Het
Ttc16 A G 2: 32,771,927 Y164H probably damaging Het
Txlnb A G 10: 17,827,982 E296G probably damaging Het
Ube2l6 G A 2: 84,802,851 V34M probably damaging Het
Vwf A C 6: 125,615,968 S764R possibly damaging Het
Zfand3 A G 17: 30,192,637 S146G probably benign Het
Zfp280d T G 9: 72,296,025 F18L probably benign Het
Other mutations in B3galt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:B3galt1 APN 2 68117976 missense possibly damaging 0.94
IGL00834:B3galt1 APN 2 68118706 missense probably damaging 1.00
IGL02555:B3galt1 APN 2 68118561 missense probably benign 0.41
IGL02678:B3galt1 APN 2 68118910 missense probably benign 0.28
IGL02904:B3galt1 APN 2 68118745 missense probably damaging 0.99
IGL03231:B3galt1 APN 2 68118603 missense probably damaging 1.00
R0483:B3galt1 UTSW 2 68118588 missense probably benign
R0735:B3galt1 UTSW 2 68118579 missense possibly damaging 0.46
R4946:B3galt1 UTSW 2 68118569 missense possibly damaging 0.91
R5327:B3galt1 UTSW 2 68118768 missense probably damaging 1.00
R5638:B3galt1 UTSW 2 68118751 missense probably damaging 0.99
R6364:B3galt1 UTSW 2 68118672 missense probably damaging 1.00
R6960:B3galt1 UTSW 2 68118689 missense probably damaging 0.98
R7578:B3galt1 UTSW 2 68118552 missense probably damaging 1.00
R8112:B3galt1 UTSW 2 68118358 missense probably damaging 1.00
R8115:B3galt1 UTSW 2 68117976 missense possibly damaging 0.83
Z1177:B3galt1 UTSW 2 68117990 missense probably damaging 1.00
Posted On2015-12-18