Incidental Mutation 'IGL01414:B4galt4'
ID80166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galt4
Ensembl Gene ENSMUSG00000022793
Gene NameUDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL01414
Quality Score
Status
Chromosome16
Chromosomal Location38742264-38769049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38757791 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 200 (E200G)
Ref Sequence ENSEMBL: ENSMUSP00000118593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023482] [ENSMUST00000114708] [ENSMUST00000114710] [ENSMUST00000114711] [ENSMUST00000114712] [ENSMUST00000154902] [ENSMUST00000231655] [ENSMUST00000232454]
Predicted Effect probably damaging
Transcript: ENSMUST00000023482
AA Change: E200G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: E200G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 209 8.4e-63 PFAM
Pfam:Glyco_transf_7C 213 290 1e-30 PFAM
Pfam:Glyco_tranf_2_2 224 289 2.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114708
SMART Domains Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114710
SMART Domains Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114711
SMART Domains Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000114712
AA Change: E200G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: E200G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 211 6.2e-58 PFAM
Pfam:Glyco_transf_7C 213 290 6.9e-31 PFAM
Pfam:Glyco_tranf_2_2 224 289 3.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154902
AA Change: E200G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: E200G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 211 5.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231655
Predicted Effect probably benign
Transcript: ENSMUST00000232454
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 enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,195,239 probably null Het
Arhgap45 T A 10: 80,027,104 S705T probably damaging Het
Cdh12 A T 15: 21,492,689 N265Y probably damaging Het
Cerk T A 15: 86,159,142 T153S probably benign Het
Ddx58 C A 4: 40,222,176 V368F probably damaging Het
Ect2 A T 3: 27,127,729 probably benign Het
Ep300 T A 15: 81,627,266 probably benign Het
Gm26920 T G 7: 30,068,078 probably benign Het
Ighv1-66 T C 12: 115,593,309 Y51C probably benign Het
Ints1 T C 5: 139,758,498 D1503G probably benign Het
Lhpp A G 7: 132,642,520 K189E probably damaging Het
Myh13 A G 11: 67,342,472 T606A probably benign Het
Naip1 T C 13: 100,409,173 probably null Het
Nckap5 G T 1: 126,528,713 Q38K probably damaging Het
Nlgn3 A G X: 101,302,260 I93V probably benign Het
Nxpe2 A G 9: 48,320,623 F345L probably benign Het
Pcdhb22 A G 18: 37,519,496 N339S probably damaging Het
Rbbp7 T A X: 162,774,581 I322N probably damaging Het
Rprd2 A T 3: 95,765,525 F855L probably damaging Het
Scin A T 12: 40,124,699 H128Q probably damaging Het
Sema4g A G 19: 44,997,996 Y337C probably damaging Het
Stx6 C T 1: 155,201,945 R233C possibly damaging Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Trem3 G T 17: 48,249,815 V105L probably benign Het
Vmn2r108 T A 17: 20,471,680 M194L probably benign Het
Zfyve16 A T 13: 92,522,196 D402E probably benign Het
Other mutations in B4galt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:B4galt4 APN 16 38754144 missense probably damaging 1.00
R0831:B4galt4 UTSW 16 38767979 missense probably benign 0.01
R2125:B4galt4 UTSW 16 38765938 missense probably damaging 0.99
R3950:B4galt4 UTSW 16 38768022 missense probably benign
R4334:B4galt4 UTSW 16 38752259 missense probably damaging 0.99
R4773:B4galt4 UTSW 16 38752296 missense probably benign 0.37
R6499:B4galt4 UTSW 16 38757822 missense probably benign 0.00
R6706:B4galt4 UTSW 16 38757811 missense probably benign 0.06
R7208:B4galt4 UTSW 16 38753940 missense probably damaging 1.00
R7500:B4galt4 UTSW 16 38768014 missense probably damaging 1.00
R7548:B4galt4 UTSW 16 38754066 missense probably damaging 1.00
R7792:B4galt4 UTSW 16 38757810 nonsense probably null
R8058:B4galt4 UTSW 16 38766021 critical splice donor site probably null
R8202:B4galt4 UTSW 16 38767912 missense probably benign
R8900:B4galt4 UTSW 16 38752042 utr 5 prime probably benign
Posted On2013-11-05