Incidental Mutation 'R0031:Gbgt1'
ID 18652
Institutional Source Beutler Lab
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Name globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
MMRRC Submission 038325-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 28386903-28395427 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 28388462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000163121]
AlphaFold Q8VI38
Predicted Effect probably benign
Transcript: ENSMUST00000028172
SMART Domains Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829

transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_6 33 347 1.6e-154 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127958
Predicted Effect probably benign
Transcript: ENSMUST00000163121
SMART Domains Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829

Pfam:Glyco_transf_6 11 347 1.9e-152 PFAM
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Agr3 T C 12: 35,997,590 (GRCm39) M100T probably benign Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Klc1 T C 12: 111,743,467 (GRCm39) Y265H probably damaging Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Pwp1 T C 10: 85,721,760 (GRCm39) I422T probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc25a12 C T 2: 71,163,958 (GRCm39) V106M possibly damaging Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Taf1c A T 8: 120,325,829 (GRCm39) C678S probably benign Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Other mutations in Gbgt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gbgt1 APN 2 28,392,207 (GRCm39) critical splice acceptor site probably null
IGL01586:Gbgt1 APN 2 28,387,842 (GRCm39) missense probably benign 0.00
R0693:Gbgt1 UTSW 2 28,394,842 (GRCm39) missense probably damaging 0.99
R1623:Gbgt1 UTSW 2 28,394,988 (GRCm39) missense probably benign 0.38
R1739:Gbgt1 UTSW 2 28,395,064 (GRCm39) missense possibly damaging 0.55
R2221:Gbgt1 UTSW 2 28,388,435 (GRCm39) missense probably damaging 1.00
R4418:Gbgt1 UTSW 2 28,388,420 (GRCm39) missense probably damaging 1.00
R4674:Gbgt1 UTSW 2 28,388,453 (GRCm39) missense possibly damaging 0.87
R4675:Gbgt1 UTSW 2 28,388,453 (GRCm39) missense possibly damaging 0.87
R4926:Gbgt1 UTSW 2 28,393,182 (GRCm39) missense probably damaging 0.99
R5254:Gbgt1 UTSW 2 28,395,220 (GRCm39) missense probably damaging 1.00
R5341:Gbgt1 UTSW 2 28,395,019 (GRCm39) missense probably damaging 1.00
R5399:Gbgt1 UTSW 2 28,393,230 (GRCm39) missense probably damaging 1.00
R6562:Gbgt1 UTSW 2 28,394,898 (GRCm39) missense probably damaging 0.99
R6658:Gbgt1 UTSW 2 28,394,998 (GRCm39) missense probably benign 0.00
R6830:Gbgt1 UTSW 2 28,395,220 (GRCm39) missense probably damaging 1.00
R7466:Gbgt1 UTSW 2 28,392,219 (GRCm39) missense probably damaging 0.96
R7636:Gbgt1 UTSW 2 28,395,326 (GRCm39) missense probably damaging 1.00
R7839:Gbgt1 UTSW 2 28,393,182 (GRCm39) missense probably damaging 0.99
R9803:Gbgt1 UTSW 2 28,394,866 (GRCm39) missense probably damaging 1.00
Z1177:Gbgt1 UTSW 2 28,395,200 (GRCm39) nonsense probably null
Posted On 2013-03-25