Incidental Mutation 'R7241:B4galt5'
ID 563181
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 045348-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7241 (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 167148617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 167 (L167P)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000109221
AA Change: L167P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: L167P

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 benign
Transcript: ENSMUST00000149698
SMART Domains Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929

DomainStartEndE-ValueType
SCOP:d1j8wb_ 15 86 9e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,184 (GRCm39) T612A probably damaging Het
Acacb G A 5: 114,383,161 (GRCm39) A2115T possibly damaging Het
Adam32 T C 8: 25,388,510 (GRCm39) K398R probably benign Het
Adam9 T A 8: 25,441,002 (GRCm39) I824F possibly damaging Het
Ahnak A G 19: 8,986,395 (GRCm39) I2560V possibly damaging Het
Ank3 G A 10: 69,542,644 (GRCm39) M1I probably null Het
Anks1b T G 10: 90,348,699 (GRCm39) I789S probably damaging Het
Ap2b1 T A 11: 83,241,931 (GRCm39) N641K probably benign Het
Arhgap33 A G 7: 30,228,146 (GRCm39) L412P probably damaging Het
Atp13a3 T A 16: 30,171,095 (GRCm39) M317L possibly damaging Het
Bace2 T C 16: 97,237,998 (GRCm39) I483T possibly damaging Het
C2cd3 A C 7: 100,056,257 (GRCm39) K177T Het
Ccr4 T C 9: 114,322,024 (GRCm39) T14A probably benign Het
Cep250 A T 2: 155,833,472 (GRCm39) H1799L probably benign Het
Cgnl1 T C 9: 71,632,052 (GRCm39) Q433R probably benign Het
Copb1 C T 7: 113,836,591 (GRCm39) V384M probably damaging Het
Cyp2c50 T A 19: 40,079,012 (GRCm39) N118K probably benign Het
Cyp4a32 A G 4: 115,459,499 (GRCm39) I78V probably benign Het
Cyth4 A G 15: 78,491,245 (GRCm39) K108R probably benign Het
Dnah1 T C 14: 30,986,896 (GRCm39) H3632R probably benign Het
Dnah3 T C 7: 119,542,856 (GRCm39) I540V probably benign Het
Dock4 A G 12: 40,844,859 (GRCm39) Y1174C probably damaging Het
Drd5 A G 5: 38,477,879 (GRCm39) T291A probably damaging Het
Eeig1 A G 2: 32,448,076 (GRCm39) R62G probably benign Het
Fbn1 T C 2: 125,148,415 (GRCm39) N2611S possibly damaging Het
Fcsk A G 8: 111,622,529 (GRCm39) I133T probably benign Het
Fhod3 A G 18: 25,193,409 (GRCm39) E640G probably damaging Het
Flvcr2 T A 12: 85,852,013 (GRCm39) D522E probably benign Het
Ganc T A 2: 120,272,010 (GRCm39) I556K probably damaging Het
Gjc2 T A 11: 59,067,960 (GRCm39) E174V unknown Het
Gzmd G A 14: 56,368,799 (GRCm39) R32C probably damaging Het
Hltf T A 3: 20,119,556 (GRCm39) H200Q probably benign Het
Ift88 A G 14: 57,717,454 (GRCm39) I559M probably damaging Het
Ighv1-62-1 C A 12: 115,350,322 (GRCm39) C115F probably damaging Het
Impdh2 A G 9: 108,440,636 (GRCm39) N279S possibly damaging Het
Itpr1 T C 6: 108,494,581 (GRCm39) probably null Het
Kansl1l T C 1: 66,840,787 (GRCm39) N171S possibly damaging Het
Kif14 T A 1: 136,396,491 (GRCm39) C266S probably benign Het
Kif19b A G 5: 140,447,943 (GRCm39) T137A probably damaging Het
Lrriq1 A C 10: 103,051,834 (GRCm39) V306G probably damaging Het
Mast4 G A 13: 103,470,508 (GRCm39) R65W possibly damaging Het
Mex3d T C 10: 80,223,091 (GRCm39) D55G Het
Mrps27 A T 13: 99,547,788 (GRCm39) K233* probably null Het
Myo1f A G 17: 33,798,902 (GRCm39) N189S probably damaging Het
Nbn A T 4: 15,991,190 (GRCm39) K729N probably benign Het
Or1e35 T C 11: 73,798,058 (GRCm39) S87G probably benign Het
Or8k35 C A 2: 86,424,498 (GRCm39) V225F possibly damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Plaat5 A G 19: 7,591,946 (GRCm39) T121A probably benign Het
Polr1e A C 4: 45,029,340 (GRCm39) H315P probably damaging Het
Pou6f2 A G 13: 18,299,874 (GRCm39) V595A Het
Prdm15 T C 16: 97,596,941 (GRCm39) D960G possibly damaging Het
Prkcz A T 4: 155,353,516 (GRCm39) M460K probably benign Het
Prkd2 G T 7: 16,591,730 (GRCm39) R587L probably benign Het
Prkn C A 17: 12,073,748 (GRCm39) N355K possibly damaging Het
Rabep1 C A 11: 70,830,815 (GRCm39) T829N probably damaging Het
Rptn A G 3: 93,303,261 (GRCm39) E198G probably benign Het
Ryr2 A T 13: 11,680,799 (GRCm39) I3182N possibly damaging Het
Sectm1a T A 11: 120,960,708 (GRCm39) I36F possibly damaging Het
Sez6l T C 5: 112,621,346 (GRCm39) S243G probably benign Het
Spata31h1 T C 10: 82,122,876 (GRCm39) E3378G probably benign Het
Taf2 T A 15: 54,925,537 (GRCm39) H235L probably benign Het
Tbc1d7 T C 13: 43,306,493 (GRCm39) Q161R probably benign Het
Tfcp2 T C 15: 100,416,468 (GRCm39) T271A possibly damaging Het
Thrsp G T 7: 97,066,295 (GRCm39) T139K probably damaging Het
Timm10 T A 2: 84,660,333 (GRCm39) *91R probably null Het
Tlr11 T A 14: 50,599,598 (GRCm39) I528N possibly damaging Het
Tnnt2 T A 1: 135,779,444 (GRCm39) L278Q probably damaging Het
Toe1 A T 4: 116,664,715 (GRCm39) M1K probably null Het
Trpv5 G A 6: 41,652,242 (GRCm39) R148* probably null Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Ttn A G 2: 76,783,550 (GRCm39) V860A unknown Het
Txnip T C 3: 96,466,991 (GRCm39) Y222H probably damaging Het
Ubr4 G A 4: 139,170,725 (GRCm39) S1600N probably damaging Het
Uhrf1 T C 17: 56,622,193 (GRCm39) Y364H probably damaging Het
Unc5a A T 13: 55,138,833 (GRCm39) T71S probably damaging Het
Vmn1r123 A T 7: 20,896,537 (GRCm39) Y143F possibly damaging Het
Vmn1r180 T A 7: 23,651,891 (GRCm39) I18N probably damaging Het
Washc2 A G 6: 116,185,168 (GRCm39) M1V probably null Het
Zfp174 C A 16: 3,666,111 (GRCm39) H125Q probably benign Het
Zfpl1 T C 19: 6,131,943 (GRCm39) H227R 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
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
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'- CACATACTCAGGAGAGGCAC -3'
(R):5'- GTCAGCGTTAAAGGATGCCTG -3'

Sequencing Primer
(F):5'- CACAGGAATGTGCTGATTGTCAACC -3'
(R):5'- GGGGCAAGAAGAGGAGCCTC -3'
Posted On 2019-06-26