Incidental Mutation 'IGL03305:B4galt5'
ID 416372
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03305
Quality Score
Status
Chromosome 2
Chromosomal Location 167140364-167191103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167147703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 224 (D224G)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
AlphaFold Q9JMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000109221
AA Change: D224G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: D224G

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 noncoding transcript
Transcript: ENSMUST00000133557
Predicted Effect probably benign
Transcript: ENSMUST00000149698
SMART Domains Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929

DomainStartEndE-ValueType
SCOP:d1j8wb_ 15 86 9e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155623
Coding Region Coverage
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik T A 8: 100,146,462 (GRCm39) probably benign Het
Akap3 G A 6: 126,841,728 (GRCm39) V116I probably benign Het
Bmpr1b G T 3: 141,548,785 (GRCm39) probably benign Het
Chmp2a T C 7: 12,766,082 (GRCm39) K137E possibly damaging Het
Cpeb1 T C 7: 81,011,464 (GRCm39) K159R probably benign Het
Dhx36 G A 3: 62,408,257 (GRCm39) Q194* probably null Het
Gm4922 T A 10: 18,659,232 (GRCm39) K497* probably null Het
Grid1 A G 14: 34,973,664 (GRCm39) N247S probably damaging Het
Npy6r A G 18: 44,408,921 (GRCm39) Y114C probably damaging Het
Ppl A G 16: 4,911,097 (GRCm39) V785A possibly damaging Het
Tmprss11d T C 5: 86,474,279 (GRCm39) H88R probably damaging Het
Wdr64 G A 1: 175,583,152 (GRCm39) V373M 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
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
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
Posted On 2016-08-02