Incidental Mutation 'R2221:Gbgt1'
ID241468
Institutional Source Beutler Lab
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Namegloboside alpha-1,3-N-acetylgalactosaminyltransferase 1
Synonyms
MMRRC Submission 040223-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2221 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location28496891-28505415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28498423 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000127071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000163121]
Predicted Effect probably damaging
Transcript: ENSMUST00000028172
AA Change: L40P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: L40P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000163121
AA Change: L40P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: L40P

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 347 1.9e-152 PFAM
Meta Mutation Damage Score 0.6678 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A T 7: 131,247,457 probably null Het
Adamtsl1 A C 4: 86,388,525 D1392A probably benign Het
Afdn T C 17: 13,883,737 probably benign Het
Aph1b A T 9: 66,784,639 M121K probably damaging Het
Aspg G A 12: 112,114,434 A120T probably damaging Het
Bicd1 A G 6: 149,517,005 T725A probably damaging Het
Cd1d2 A T 3: 86,988,540 I292F probably damaging Het
Cdk13 A G 13: 17,719,535 V495A probably damaging Het
Cfd A T 10: 79,892,205 probably null Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
Cradd A C 10: 95,175,873 V135G probably benign Het
Cry1 A G 10: 85,143,753 C460R probably damaging Het
Ctu2 A G 8: 122,480,910 E375G probably damaging Het
Dym T G 18: 75,230,165 I580S probably damaging Het
Eif3e A G 15: 43,251,547 L411P possibly damaging Het
Emsy T C 7: 98,590,775 E1091G possibly damaging Het
Enkur A G 2: 21,189,319 probably benign Het
Fam184a G A 10: 53,655,079 T733M probably damaging Het
Frem2 G A 3: 53,516,857 A3053V probably benign Het
Gm5174 T A 10: 86,656,508 noncoding transcript Het
Gys2 G T 6: 142,456,422 D230E probably damaging Het
Herc2 T A 7: 56,169,018 probably null Het
Hps3 A T 3: 20,002,363 S815R probably benign Het
Igf1r C A 7: 68,201,962 S983R probably damaging Het
Itsn1 T A 16: 91,853,768 probably benign Het
Kcnc2 A G 10: 112,456,526 N91D probably damaging Het
Kif28 C A 1: 179,733,111 A210S possibly damaging Het
Klri2 T A 6: 129,740,309 Q37L probably damaging Het
Lrrc38 T A 4: 143,369,849 C243* probably null Het
Map3k5 T C 10: 20,067,920 V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 F5135L probably benign Het
Megf11 G A 9: 64,660,431 G401S possibly damaging Het
Mst1r T C 9: 107,908,348 F402L probably damaging Het
Ntrk3 T C 7: 78,198,852 I759V probably damaging Het
Nup188 T C 2: 30,336,924 probably benign Het
Olfr1243 C T 2: 89,527,937 V158I probably benign Het
Olfr870 T C 9: 20,171,092 S160G possibly damaging Het
Prdm2 T C 4: 143,134,899 N607S possibly damaging Het
Prl2a1 T A 13: 27,806,386 probably null Het
Serpina9 T A 12: 103,998,264 I305F probably damaging Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Slc19a1 C T 10: 77,042,486 T285I probably benign Het
Snap91 T C 9: 86,792,527 T544A possibly damaging Het
Srgap3 A G 6: 112,946,493 S2P probably damaging Het
Tcof1 A G 18: 60,837,901 V210A possibly damaging Het
Tex261 A G 6: 83,771,515 I136T probably benign Het
Trpa1 A T 1: 14,903,256 F279L probably null Het
Ttc39b T C 4: 83,232,762 N532S probably benign Het
Ttn T C 2: 76,742,094 T26152A probably damaging Het
Ube2w A G 1: 16,597,959 S97P possibly damaging Het
Vmn1r25 A C 6: 57,979,238 L22R probably damaging Het
Vmn1r64 T C 7: 5,884,449 I32V probably benign Het
Vmn2r112 T G 17: 22,601,233 M29R possibly damaging Het
Vmn2r71 T A 7: 85,624,093 M705K probably benign Het
Vps13b G A 15: 35,884,597 V3139I probably benign Het
Zfp628 T C 7: 4,920,831 V684A probably benign Het
Other mutations in Gbgt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gbgt1 APN 2 28502195 critical splice acceptor site probably null
IGL01586:Gbgt1 APN 2 28497830 missense probably benign 0.00
R0031:Gbgt1 UTSW 2 28498450 splice site probably benign
R0693:Gbgt1 UTSW 2 28504830 missense probably damaging 0.99
R1623:Gbgt1 UTSW 2 28504976 missense probably benign 0.38
R1739:Gbgt1 UTSW 2 28505052 missense possibly damaging 0.55
R4418:Gbgt1 UTSW 2 28498408 missense probably damaging 1.00
R4674:Gbgt1 UTSW 2 28498441 missense possibly damaging 0.87
R4675:Gbgt1 UTSW 2 28498441 missense possibly damaging 0.87
R4926:Gbgt1 UTSW 2 28503170 missense probably damaging 0.99
R5254:Gbgt1 UTSW 2 28505208 missense probably damaging 1.00
R5341:Gbgt1 UTSW 2 28505007 missense probably damaging 1.00
R5399:Gbgt1 UTSW 2 28503218 missense probably damaging 1.00
R6562:Gbgt1 UTSW 2 28504886 missense probably damaging 0.99
R6658:Gbgt1 UTSW 2 28504986 missense probably benign 0.00
R6830:Gbgt1 UTSW 2 28505208 missense probably damaging 1.00
R7466:Gbgt1 UTSW 2 28502207 missense probably damaging 0.96
R7636:Gbgt1 UTSW 2 28505314 missense probably damaging 1.00
R7839:Gbgt1 UTSW 2 28503170 missense probably damaging 0.99
R7922:Gbgt1 UTSW 2 28503170 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGCTACACACTAGGCCCTATG -3'
(R):5'- TGGAATCTCCGGTTCTCAGC -3'

Sequencing Primer
(F):5'- CACTAGGCCCTATGCTAGATATGG -3'
(R):5'- CTCGAGTCTACGGCAGCTCTAAG -3'
Posted On2014-10-15