Incidental Mutation 'R7995:B4galt5'
ID 616008
Institutional Source Beutler Lab
Gene Symbol B4galt5
Ensembl Gene ENSMUSG00000017929
Gene Name UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
Synonyms 9430078I07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 167140364-167191103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 167143296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 376 (V376A)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000109221
AA Change: V376A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: V376A

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
SMART Domains Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929
AA Change: V83A

DomainStartEndE-ValueType
SCOP:d1j8wb_ 15 86 9e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,528 (GRCm39) T137S unknown Het
Apbb1 T C 7: 105,214,852 (GRCm39) D462G probably benign Het
Arhgef1 T G 7: 24,618,641 (GRCm39) L387R probably damaging Het
Ass1 A G 2: 31,376,552 (GRCm39) I139V probably benign Het
Bdkrb1 A G 12: 105,571,379 (GRCm39) N315S probably damaging Het
Brap A T 5: 121,820,909 (GRCm39) I429L probably benign Het
Capn2 A G 1: 182,306,111 (GRCm39) probably null Het
Car10 A G 11: 93,487,948 (GRCm39) Y215C probably damaging Het
Ccdc102a T C 8: 95,634,495 (GRCm39) T365A probably damaging Het
Cdc42ep1 A G 15: 78,731,696 (GRCm39) H47R probably damaging Het
Celsr3 G A 9: 108,722,282 (GRCm39) S2734N probably damaging Het
Cers5 A C 15: 99,638,823 (GRCm39) probably null Het
Cfap43 T C 19: 47,886,462 (GRCm39) E51G probably damaging Het
Cftr T A 6: 18,214,155 (GRCm39) D110E probably damaging Het
Cimap2 T A 4: 106,473,112 (GRCm39) H57L probably benign Het
Cntnap5a A G 1: 116,499,277 (GRCm39) K1176E probably damaging Het
Dlx6 A T 6: 6,867,277 (GRCm39) R293S probably damaging Het
Dnah2 A T 11: 69,411,563 (GRCm39) F353Y possibly damaging Het
Dnajc13 A T 9: 104,051,562 (GRCm39) I1765N probably damaging Het
Ercc6 G T 14: 32,284,526 (GRCm39) R763L probably damaging Het
Furin T C 7: 80,045,195 (GRCm39) N243S probably damaging Het
Hace1 A G 10: 45,465,588 (GRCm39) E48G probably damaging Het
Kcnv1 G A 15: 44,972,743 (GRCm39) T380I probably damaging Het
Klk4 T A 7: 43,533,010 (GRCm39) I32N probably damaging Het
Lingo2 T C 4: 35,709,425 (GRCm39) E185G probably damaging Het
Lrba T A 3: 86,526,858 (GRCm39) W2239R probably damaging Het
Mical2 T A 7: 111,980,975 (GRCm39) D316E probably benign Het
Mlh1 G T 9: 111,064,989 (GRCm39) N555K probably damaging Het
Mroh2b G A 15: 4,950,839 (GRCm39) W579* probably null Het
Mycs G A X: 5,380,858 (GRCm39) P74L probably damaging Het
Or5p62 A T 7: 107,771,207 (GRCm39) L248H probably damaging Het
Or6c1 T C 10: 129,518,509 (GRCm39) Y33C probably damaging Het
Pak2 T C 16: 31,846,590 (GRCm39) I365V possibly damaging Het
Pcdhga11 C A 18: 37,890,078 (GRCm39) S362* probably null Het
Pdk4 C T 6: 5,487,093 (GRCm39) V318M probably benign Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phldb1 A T 9: 44,626,669 (GRCm39) L592Q probably damaging Het
Pigr A G 1: 130,769,423 (GRCm39) Y78C probably damaging Het
Pnkp T A 7: 44,507,960 (GRCm39) Y94* probably null Het
Polr2b T C 5: 77,473,614 (GRCm39) V310A possibly damaging Het
Pramel21 A G 4: 143,342,570 (GRCm39) I226V possibly damaging Het
Prl7d1 T A 13: 27,894,054 (GRCm39) I171L probably benign Het
Rpusd4 A G 9: 35,184,017 (GRCm39) Y224C probably damaging Het
Scara5 C A 14: 65,997,057 (GRCm39) R390S possibly damaging Het
Scin C T 12: 40,129,804 (GRCm39) V330I probably benign Het
Sdr42e1 T A 8: 118,390,007 (GRCm39) R211S probably benign Het
Slc36a3 C A 11: 55,020,495 (GRCm39) A292S probably benign Het
Spata31d1a T C 13: 59,848,924 (GRCm39) D1068G probably benign Het
Srd5a1 T A 13: 69,759,338 (GRCm39) D10V probably damaging Het
Sspo G T 6: 48,469,823 (GRCm39) C4507F probably damaging Het
Tmem94 G A 11: 115,688,797 (GRCm39) E1335K probably damaging Het
Tnfrsf13b C T 11: 61,031,742 (GRCm39) Q28* probably null Het
Tspan3 A T 9: 56,054,438 (GRCm39) F88I probably benign Het
Ttn T C 2: 76,592,519 (GRCm39) K20871R probably benign Het
Ube2j2 C A 4: 156,041,795 (GRCm39) Y263* probably null Het
Vcan T C 13: 89,839,977 (GRCm39) T1856A probably benign Het
Vrk3 T C 7: 44,413,585 (GRCm39) L218P probably damaging Het
Zfp236 G T 18: 82,657,461 (GRCm39) H761N probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zfp827 T A 8: 79,844,887 (GRCm39) S686T possibly damaging 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
R7868:B4galt5 UTSW 2 167,143,340 (GRCm39) nonsense probably null
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'- AGGTGTCCTCAAGTCTCCTG -3'
(R):5'- TGCCCTGGACTTGTAAAGC -3'

Sequencing Primer
(F):5'- CTACAGCGAAGGCCTTTGTG -3'
(R):5'- ACTTGTAAAGCTGGGCGTCAG -3'
Posted On 2020-01-23