Incidental Mutation 'R1028:B3galt4'
ID 95081
Institutional Source Beutler Lab
Gene Symbol B3galt4
Ensembl Gene ENSMUSG00000067370
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4
Synonyms Gal-T2
MMRRC Submission 039130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R1028 (G1)
Quality Score 221
Status Not validated
Chromosome 17
Chromosomal Location 34168886-34170462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34169813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 142 (R142C)
Ref Sequence ENSEMBL: ENSMUSP00000084823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008812] [ENSMUST00000025170] [ENSMUST00000025178] [ENSMUST00000087543] [ENSMUST00000174609]
AlphaFold Q9Z0F0
Predicted Effect probably benign
Transcript: ENSMUST00000008812
SMART Domains Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668

DomainStartEndE-ValueType
Pfam:Ribosomal_S13 14 142 2.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025170
SMART Domains Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

DomainStartEndE-ValueType
coiled coil region 126 155 N/A INTRINSIC
low complexity region 204 217 N/A INTRINSIC
WD40 225 262 1.02e2 SMART
WD40 267 302 3.3e1 SMART
Blast:WD40 305 344 8e-19 BLAST
WD40 347 386 9.52e-6 SMART
Blast:WD40 392 426 3e-14 BLAST
BING4CT 439 517 8.85e-53 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 586 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025178
SMART Domains Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
low complexity region 24 45 N/A INTRINSIC
Pfam:Sec3_C 79 244 4.6e-13 PFAM
Pfam:Vps52 94 601 5.1e-233 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087543
AA Change: R142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370
AA Change: R142C

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:Galactosyl_T 85 302 1.3e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174175
Predicted Effect probably benign
Transcript: ENSMUST00000174609
SMART Domains Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668

DomainStartEndE-ValueType
Pfam:Ribosomal_S13 14 107 2.1e-21 PFAM
Meta Mutation Damage Score 0.4813 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.1%
  • 10x: 91.8%
  • 20x: 78.7%
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 oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 12: 105,676,448 (GRCm39) probably benign Het
Ano8 GCCTCCTCCTCCTCCTC GCCTCCTCCTCCTC 8: 71,933,615 (GRCm39) probably benign Het
Bpifb9a G C 2: 154,104,327 (GRCm39) E257Q possibly damaging Het
Cdh19 T C 1: 110,882,314 (GRCm39) I59M probably benign Het
Cmah A G 13: 24,619,645 (GRCm39) D171G probably damaging Het
Colec12 T C 18: 9,866,837 (GRCm39) S683P unknown Het
Dixdc1 C T 9: 50,614,546 (GRCm39) A168T probably benign Het
Dpp6 A G 5: 27,871,425 (GRCm39) D461G probably benign Het
Entpd3 A G 9: 120,387,427 (GRCm39) H208R probably benign Het
Fuz T C 7: 44,546,350 (GRCm39) I39T probably damaging Het
Gprin3 T C 6: 59,331,594 (GRCm39) N238D possibly damaging Het
Itpr3 G T 17: 27,310,343 (GRCm39) A403S probably benign Het
Mroh2a G A 1: 88,163,098 (GRCm39) R376H probably benign Het
Mtor G C 4: 148,623,287 (GRCm39) G2046R possibly damaging Het
Myh13 T C 11: 67,247,007 (GRCm39) S1243P possibly damaging Het
Net1 A T 13: 3,934,375 (GRCm39) C441S probably damaging Het
Nlrp4e T C 7: 23,021,169 (GRCm39) F552S probably damaging Het
Or2y15 G A 11: 49,351,047 (GRCm39) M180I probably benign Het
Or4k47 A T 2: 111,451,870 (GRCm39) L183Q probably damaging Het
Or9i16 C A 19: 13,865,159 (GRCm39) Q138H probably damaging Het
Ovch2 T C 7: 107,395,755 (GRCm39) I88V probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pkhd1 A G 1: 20,187,950 (GRCm39) Y3453H probably damaging Het
Rabgef1 T G 5: 130,241,703 (GRCm39) L369* probably null Het
Rufy1 A T 11: 50,305,425 (GRCm39) probably null Het
Sec16b T C 1: 157,388,487 (GRCm39) V618A probably benign Het
Sh3rf1 A G 8: 61,846,821 (GRCm39) R876G possibly damaging Het
Slc26a8 A G 17: 28,891,772 (GRCm39) Y126H probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zp1 G A 19: 10,896,275 (GRCm39) T150I probably benign Het
Other mutations in B3galt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:B3galt4 APN 17 34,170,187 (GRCm39) missense probably benign 0.23
IGL02216:B3galt4 APN 17 34,169,539 (GRCm39) missense probably damaging 1.00
beacon UTSW 17 34,169,819 (GRCm39) missense probably damaging 1.00
beguiling UTSW 17 34,169,821 (GRCm39) missense probably damaging 1.00
R0326:B3galt4 UTSW 17 34,169,722 (GRCm39) missense probably damaging 1.00
R0419:B3galt4 UTSW 17 34,169,764 (GRCm39) missense probably damaging 1.00
R0446:B3galt4 UTSW 17 34,169,992 (GRCm39) missense probably benign 0.00
R1024:B3galt4 UTSW 17 34,169,813 (GRCm39) missense probably damaging 1.00
R1412:B3galt4 UTSW 17 34,169,813 (GRCm39) missense probably damaging 1.00
R1590:B3galt4 UTSW 17 34,169,813 (GRCm39) missense probably damaging 1.00
R1591:B3galt4 UTSW 17 34,169,813 (GRCm39) missense probably damaging 1.00
R1681:B3galt4 UTSW 17 34,170,187 (GRCm39) missense probably benign 0.23
R1851:B3galt4 UTSW 17 34,169,885 (GRCm39) missense probably benign 0.26
R1955:B3galt4 UTSW 17 34,169,606 (GRCm39) nonsense probably null
R2103:B3galt4 UTSW 17 34,169,813 (GRCm39) missense probably damaging 1.00
R5802:B3galt4 UTSW 17 34,169,731 (GRCm39) missense probably damaging 1.00
R6922:B3galt4 UTSW 17 34,169,821 (GRCm39) missense probably damaging 1.00
R7644:B3galt4 UTSW 17 34,169,419 (GRCm39) missense probably damaging 0.99
R8073:B3galt4 UTSW 17 34,169,797 (GRCm39) missense probably damaging 1.00
R8687:B3galt4 UTSW 17 34,169,819 (GRCm39) missense probably damaging 1.00
R8839:B3galt4 UTSW 17 34,169,867 (GRCm39) missense possibly damaging 0.89
R9200:B3galt4 UTSW 17 34,170,384 (GRCm39) unclassified probably benign
Z1177:B3galt4 UTSW 17 34,170,110 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTGCCTAAATACAGAAGGGGCAC -3'
(R):5'- AGAGAAACGCCATTCGGGCATC -3'

Sequencing Primer
(F):5'- AGAAGGGGCACTGCCTG -3'
(R):5'- TCTTGGGGTGCCATCCG -3'
Posted On 2014-01-05