Incidental Mutation 'R8005:B4galt5'
ID 616554
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 046045-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8005 (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 167143384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 347 (S347P)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000109221
AA Change: S347P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: S347P

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: S54P

DomainStartEndE-ValueType
SCOP:d1j8wb_ 15 86 9e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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
Acot1 A G 12: 84,063,774 (GRCm39) D294G probably benign Het
Ak8 A T 2: 28,602,314 (GRCm39) S83C probably benign Het
Ankrd34b C A 13: 92,575,230 (GRCm39) A154E possibly damaging Het
Anks1 A G 17: 28,278,341 (GRCm39) D1175G probably damaging Het
Ano4 T A 10: 88,807,183 (GRCm39) L799F probably benign Het
Aplp1 T C 7: 30,135,470 (GRCm39) probably null Het
Apob A T 12: 8,059,744 (GRCm39) H2742L probably benign Het
Apol7e C T 15: 77,602,277 (GRCm39) Q292* probably null Het
Atp2b1 G A 10: 98,830,661 (GRCm39) G374D probably damaging Het
Bcl11b T C 12: 107,882,456 (GRCm39) T620A probably benign Het
Bco2 T A 9: 50,450,213 (GRCm39) D329V probably damaging Het
Cd200l2 T C 16: 45,352,400 (GRCm39) probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Copg2 T A 6: 30,873,632 (GRCm39) M1L possibly damaging Het
D430041D05Rik G A 2: 104,088,599 (GRCm39) H164Y possibly damaging Het
Dscaml1 G T 9: 45,628,808 (GRCm39) G1121C probably damaging Het
Gas2l1 A T 11: 5,011,552 (GRCm39) S426T probably benign Het
Gm9195 T A 14: 72,663,840 (GRCm39) I2740F probably benign Het
Irgm1 A G 11: 48,757,217 (GRCm39) I214T probably damaging Het
Kbtbd3 C T 9: 4,330,655 (GRCm39) T343I probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Ly75 A T 2: 60,163,278 (GRCm39) Y804N probably damaging Het
Mgat2 A G 12: 69,232,722 (GRCm39) H432R probably damaging Het
Nsrp1 A T 11: 76,936,612 (GRCm39) M528K probably damaging Het
Nup54 T C 5: 92,576,006 (GRCm39) I162V probably benign Het
Obsl1 T A 1: 75,482,096 (GRCm39) N258I probably damaging Het
Or1j4 A G 2: 36,740,156 (GRCm39) T33A probably benign Het
Or2y1b G T 11: 49,208,968 (GRCm39) M198I probably benign Het
Or5p6 T C 7: 107,631,470 (GRCm39) R27G possibly damaging Het
Or5p73 T C 7: 108,064,693 (GRCm39) V54A probably benign Het
Pax2 G A 19: 44,749,328 (GRCm39) V20M probably damaging Het
Pigb A T 9: 72,922,546 (GRCm39) M13K unknown Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pik3c2a T C 7: 116,017,271 (GRCm39) Y162C probably damaging Het
Pik3c2g A T 6: 139,599,067 (GRCm39) D61V probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pramel17 A G 4: 101,694,448 (GRCm39) V145A probably damaging Het
Prss46 A G 9: 110,685,144 (GRCm39) D256G probably benign Het
Rims1 G T 1: 22,482,437 (GRCm39) D196E Het
Sbf1 A G 15: 89,178,408 (GRCm39) L1498P probably damaging Het
Sh2b1 T C 7: 126,068,479 (GRCm39) D444G possibly damaging Het
Slc7a15 T G 12: 8,589,395 (GRCm39) M51L probably damaging Het
Slitrk1 T C 14: 109,150,697 (GRCm39) I5V probably benign Het
Spart T A 3: 55,024,773 (GRCm39) C123S probably benign Het
Sry C T Y: 2,663,303 (GRCm39) R119K possibly damaging Het
Tasor2 C T 13: 3,625,681 (GRCm39) S1423N probably benign Het
Tbcc T C 17: 47,201,686 (GRCm39) V24A possibly damaging Het
Tfap2a T A 13: 40,872,684 (GRCm39) M331L possibly damaging Het
Thnsl1 A G 2: 21,216,755 (GRCm39) I170V probably benign Het
Ticrr T G 7: 79,343,796 (GRCm39) S1220R probably damaging Het
Tmem262 T C 19: 6,130,507 (GRCm39) M77T possibly damaging Het
Tmem67 A G 4: 12,047,821 (GRCm39) S771P probably damaging Het
Tsc2 G A 17: 24,818,570 (GRCm39) A1423V probably damaging Het
Ubr4 T A 4: 139,139,941 (GRCm39) Y1175N probably damaging Het
Usp25 G A 16: 76,873,956 (GRCm39) A511T probably benign Het
Vmn2r115 T A 17: 23,563,124 (GRCm39) Y58* probably null Het
Wt1 T C 2: 104,957,789 (GRCm39) probably null Het
Zfp735 A T 11: 73,603,140 (GRCm39) K695* probably null Het
Zkscan14 A G 5: 145,132,568 (GRCm39) F321S possibly damaging Het
Zswim9 T C 7: 12,995,064 (GRCm39) E364G probably 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
R7995:B4galt5 UTSW 2 167,143,296 (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'- CAGTTTTCTGGAACCCCTATGG -3'
(R):5'- CAGTTCTGACCTGGGATTCG -3'

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