Incidental Mutation 'R7868:B4galt5'
ID 607896
Institutional Source Beutler Lab
Gene Symbol B4galt5
Ensembl Gene ENSMUSG00000017929
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
Synonyms 9430078I07Rik
MMRRC Submission 045920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 167140364-167191103 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 167143340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 361 (Y361*)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably null
Transcript: ENSMUST00000109221
AA Change: Y361*
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: Y361*

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 114 249 3.1e-57 PFAM
Pfam:Glyco_transf_7C 253 332 1.6e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149698
AA Change: Y68*
SMART Domains Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929
AA Change: Y68*

DomainStartEndE-ValueType
SCOP:d1j8wb_ 15 86 9e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Heterozygous mutant mice exhibit increased anxiety-like response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,257 (GRCm39) probably null Het
Acacb A G 5: 114,386,288 (GRCm39) E2274G probably benign Het
Adam7 A G 14: 68,770,090 (GRCm39) I21T possibly damaging Het
Aldh3b3 C T 19: 4,018,492 (GRCm39) R57* probably null Het
Arhgap22 T C 14: 33,086,473 (GRCm39) probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bsn G T 9: 107,992,098 (GRCm39) A1218D possibly damaging Het
Ccdc141 T C 2: 76,938,756 (GRCm39) D283G probably damaging Het
Ccdc33 T A 9: 57,976,374 (GRCm39) I547F probably benign Het
Chdh A G 14: 29,753,288 (GRCm39) N66D probably benign Het
Ckap2l T A 2: 129,127,209 (GRCm39) Q323L probably damaging Het
Cpvl T A 6: 53,951,745 (GRCm39) I13F possibly damaging Het
Creb3l2 G A 6: 37,312,804 (GRCm39) P410L probably damaging Het
Dna2 T C 10: 62,805,643 (GRCm39) V960A probably benign Het
Dop1a G A 9: 86,384,037 (GRCm39) probably null Het
Dpysl5 A T 5: 30,902,760 (GRCm39) D64V probably damaging Het
Dysf A G 6: 84,091,081 (GRCm39) Q1041R probably benign Het
Efcab7 T C 4: 99,746,154 (GRCm39) V242A probably benign Het
Ehbp1 G A 11: 22,096,542 (GRCm39) R341* probably null Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fbxo32 A T 15: 58,077,986 (GRCm39) W8R probably damaging Het
Fpgs T C 2: 32,573,472 (GRCm39) N455D probably damaging Het
Fsip1 G A 2: 117,966,967 (GRCm39) Q453* probably null Het
Gm8257 T A 14: 44,894,754 (GRCm39) E12V probably damaging Het
Kdm3a A T 6: 71,572,473 (GRCm39) D1029E probably benign Het
Lipo4 T G 19: 33,488,968 (GRCm39) Q205P possibly damaging Het
Lpar6 A T 14: 73,476,435 (GRCm39) N132I probably damaging Het
Lrp1b C T 2: 41,339,246 (GRCm39) G866S Het
Man2c1 T C 9: 57,045,270 (GRCm39) F460L probably damaging Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Map4k1 A T 7: 28,699,387 (GRCm39) probably null Het
Matn1 A G 4: 130,682,311 (GRCm39) E496G probably damaging Het
Mfsd2a A T 4: 122,850,648 (GRCm39) V76E possibly damaging Het
Mmut C T 17: 41,257,934 (GRCm39) R367C probably damaging Het
Mtpap A G 18: 4,380,673 (GRCm39) E117G probably damaging Het
Muc17 T A 5: 137,175,625 (GRCm39) N15I Het
Ndufa10 A G 1: 92,388,169 (GRCm39) Y275H probably damaging Het
Nlrc4 A T 17: 74,755,047 (GRCm39) H56Q possibly damaging Het
Nrde2 G A 12: 100,097,446 (GRCm39) R785C possibly damaging Het
Nsun4 C A 4: 115,891,329 (GRCm39) C350F probably benign Het
Or10x1 A G 1: 174,196,551 (GRCm39) T23A probably benign Het
Or51f23b A G 7: 102,402,812 (GRCm39) L108P possibly damaging Het
Or8g2 T A 9: 39,821,282 (GRCm39) F61Y probably benign Het
Or9s14 G A 1: 92,536,237 (GRCm39) G226D possibly damaging Het
Pdcd7 T A 9: 65,254,261 (GRCm39) C280S probably damaging Het
Peak1 G T 9: 56,167,754 (GRCm39) T58K probably damaging Het
Phactr2 T C 10: 13,108,353 (GRCm39) E573G probably damaging Het
Pramel27 A G 4: 143,578,154 (GRCm39) H138R possibly damaging Het
Ptprz1 G A 6: 23,000,963 (GRCm39) A1018T not run Het
Ralgapa1 G T 12: 55,659,423 (GRCm39) D2032E probably benign Het
Rapgef4 T A 2: 72,031,481 (GRCm39) N488K probably benign Het
Slc1a2 A G 2: 102,591,530 (GRCm39) D420G probably benign Het
Smyd5 T A 6: 85,421,297 (GRCm39) L337Q probably damaging Het
Tenm4 G A 7: 96,555,587 (GRCm39) R2764H possibly damaging Het
Tex35 A T 1: 156,926,908 (GRCm39) Y195* probably null Het
Tln2 T C 9: 67,255,508 (GRCm39) K690E probably damaging Het
Trpc4 A G 3: 54,209,707 (GRCm39) T691A probably benign Het
Tsr1 T A 11: 74,791,158 (GRCm39) F246I possibly damaging Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
Ubr4 A T 4: 139,187,344 (GRCm39) Y669F unknown Het
Uox A C 3: 146,316,029 (GRCm39) D12A probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Other mutations in B4galt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:B4galt5 APN 2 167,143,261 (GRCm39) missense probably benign 0.17
IGL02573:B4galt5 APN 2 167,146,982 (GRCm39) missense probably benign 0.01
IGL03305:B4galt5 APN 2 167,147,703 (GRCm39) missense probably damaging 0.96
R0115:B4galt5 UTSW 2 167,151,154 (GRCm39) missense probably damaging 1.00
R0481:B4galt5 UTSW 2 167,151,154 (GRCm39) missense probably damaging 1.00
R1989:B4galt5 UTSW 2 167,146,923 (GRCm39) missense probably damaging 0.97
R2507:B4galt5 UTSW 2 167,148,558 (GRCm39) missense probably benign 0.29
R2508:B4galt5 UTSW 2 167,148,558 (GRCm39) missense probably benign 0.29
R5144:B4galt5 UTSW 2 167,148,516 (GRCm39) missense possibly damaging 0.95
R5717:B4galt5 UTSW 2 167,148,549 (GRCm39) missense probably damaging 0.99
R6315:B4galt5 UTSW 2 167,147,729 (GRCm39) missense probably damaging 1.00
R7241:B4galt5 UTSW 2 167,148,617 (GRCm39) missense probably damaging 1.00
R7315:B4galt5 UTSW 2 167,143,296 (GRCm39) missense probably damaging 1.00
R7677:B4galt5 UTSW 2 167,146,998 (GRCm39) missense probably damaging 1.00
R7995:B4galt5 UTSW 2 167,143,296 (GRCm39) missense probably damaging 1.00
R8005:B4galt5 UTSW 2 167,143,384 (GRCm39) missense probably damaging 1.00
R8197:B4galt5 UTSW 2 167,144,023 (GRCm39) missense probably benign 0.38
R8322:B4galt5 UTSW 2 167,190,849 (GRCm39) missense probably benign 0.01
R8371:B4galt5 UTSW 2 167,151,145 (GRCm39) missense probably damaging 1.00
R8956:B4galt5 UTSW 2 167,143,260 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTTCTGGAACCCCTATGG -3'
(R):5'- TGACCTGGGATTCGTCTCTG -3'

Sequencing Primer
(F):5'- ATGGTCCTGTGCTCCACTC -3'
(R):5'- GGATTCGTCTCTGGAGCCTC -3'
Posted On 2019-12-20