Incidental Mutation 'R8371:B4galt5'
ID 646376
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 067740-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8371 (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 167151145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 121 (M121T)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000109221
AA Change: M121T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: M121T

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: 98.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G T 11: 109,945,473 (GRCm39) Q1050K probably benign Het
Birc2 A G 9: 7,849,427 (GRCm39) L549P probably damaging Het
Cacna1b T C 2: 24,610,036 (GRCm39) N368S possibly damaging Het
Cbr1 A G 16: 93,406,779 (GRCm39) E165G probably damaging Het
Ccdc178 T C 18: 21,944,561 (GRCm39) D866G possibly damaging Het
Cd40 G A 2: 164,908,458 (GRCm39) G178E probably damaging Het
Cers1 T A 8: 70,782,223 (GRCm39) L349H probably benign Het
Chd8 T C 14: 52,470,275 (GRCm39) K445R probably benign Het
Clca3a2 G T 3: 144,513,114 (GRCm39) S477* probably null Het
Clec4a1 T A 6: 122,910,882 (GRCm39) *246R probably null Het
CN725425 T C 15: 91,124,973 (GRCm39) I171T probably benign Het
Crybg3 A G 16: 59,377,414 (GRCm39) M1280T probably benign Het
Csf1r A T 18: 61,250,663 (GRCm39) Q458L probably benign Het
Cyp3a11 A T 5: 145,805,438 (GRCm39) V193E possibly damaging Het
Cys1 A G 12: 24,718,694 (GRCm39) I53T probably benign Het
Dhrs3 A C 4: 144,645,953 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,919 (GRCm39) R229G probably benign Het
Dhx9 T C 1: 153,331,961 (GRCm39) N1336D unknown Het
Dmgdh T A 13: 93,845,238 (GRCm39) H410Q probably benign Het
Dmxl1 T A 18: 50,031,781 (GRCm39) M2225K probably benign Het
Eif4g3 T G 4: 137,824,156 (GRCm39) Y80D probably damaging Het
Ephx4 A T 5: 107,561,384 (GRCm39) I164F possibly damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fhl4 G A 10: 84,934,637 (GRCm39) A48V probably benign Het
Fmn2 T C 1: 174,437,173 (GRCm39) L1048S unknown Het
Gemin5 T C 11: 58,017,384 (GRCm39) M1212V probably benign Het
Gm9195 C T 14: 72,697,899 (GRCm39) V1294I probably benign Het
Gpr55 A T 1: 85,868,849 (GRCm39) V244E probably damaging Het
Hgfac T A 5: 35,202,787 (GRCm39) F429Y probably damaging Het
Jade2 T A 11: 51,715,959 (GRCm39) E415D probably benign Het
Kcnj4 T A 15: 79,369,342 (GRCm39) I213F probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Klhl33 C T 14: 51,129,689 (GRCm39) R312Q probably damaging Het
Krt82 T C 15: 101,453,546 (GRCm39) E280G probably benign Het
Lemd1 C A 1: 132,156,687 (GRCm39) Q40K probably damaging Het
Lmo7 T C 14: 102,124,444 (GRCm39) L423P possibly damaging Het
Lrp8 A G 4: 107,726,268 (GRCm39) Y773C probably damaging Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mroh8 A T 2: 157,094,896 (GRCm39) Y363* probably null Het
Or2n1c G A 17: 38,519,189 (GRCm39) A18T probably benign Het
Or51a25 C A 7: 102,372,790 (GRCm39) K302N probably damaging Het
Or5p61 G A 7: 107,758,435 (GRCm39) T215I probably benign Het
Pcdha2 T C 18: 37,073,316 (GRCm39) Y316H possibly damaging Het
Pcdha6 T A 18: 37,102,920 (GRCm39) C704* probably null Het
Pik3c2g G A 6: 139,881,782 (GRCm39) V923M unknown Het
Rhd A G 4: 134,603,694 (GRCm39) S72G probably benign Het
Rhot1 T C 11: 80,134,292 (GRCm39) L295P probably damaging Het
Rrp1b A G 17: 32,268,458 (GRCm39) E139G possibly damaging Het
Scnn1a T G 6: 125,320,806 (GRCm39) Y620D possibly damaging Het
Serpinb12 A T 1: 106,884,135 (GRCm39) I294L probably benign Het
Serpinb3d T C 1: 107,008,469 (GRCm39) D132G probably damaging Het
Slc26a3 A T 12: 31,502,541 (GRCm39) D254V probably damaging Het
Srrm1 A T 4: 135,052,532 (GRCm39) I614N unknown Het
Stt3b A G 9: 115,095,243 (GRCm39) Y263H probably damaging Het
Taf7 T A 18: 37,776,552 (GRCm39) K5I probably damaging Het
Tbck C A 3: 132,458,285 (GRCm39) H638Q possibly damaging Het
Tnfsf9 A C 17: 57,412,541 (GRCm39) D37A probably benign Het
Trim71 C A 9: 114,344,857 (GRCm39) V354F probably benign Het
Tspoap1 T G 11: 87,669,127 (GRCm39) C1467G probably benign Het
Xirp1 C T 9: 119,848,499 (GRCm39) R128Q possibly damaging Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zfhx2 T C 14: 55,301,549 (GRCm39) D2145G probably damaging Het
Zfy2 T C Y: 2,117,168 (GRCm39) T220A probably benign 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
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
R8956:B4galt5 UTSW 2 167,143,260 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCATTACACGGGACAGAACAC -3'
(R):5'- CACCAGTTACAGAGCGCTTC -3'

Sequencing Primer
(F):5'- CCACCAAGCATATGGGGCAG -3'
(R):5'- CTTCTGAGGGGCTGGAGGAAC -3'
Posted On 2020-09-02