Incidental Mutation 'R4418:Gbgt1'
ID 326916
Institutional Source Beutler Lab
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Name globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Synonyms
MMRRC Submission 041139-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4418 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28386903-28395427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28388420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 35 (Y35C)
Ref Sequence ENSEMBL: ENSMUSP00000127071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000163121]
AlphaFold Q8VI38
Predicted Effect probably damaging
Transcript: ENSMUST00000028172
AA Change: Y35C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: Y35C

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: Y35C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: Y35C

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 347 1.9e-152 PFAM
Meta Mutation Damage Score 0.4505 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,872,372 (GRCm39) noncoding transcript Het
Acot12 A G 13: 91,932,524 (GRCm39) T507A possibly damaging Het
Agap2 T G 10: 126,927,519 (GRCm39) C1113W probably damaging Het
Ap3s1-ps2 A T 8: 95,131,921 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,146,413 (GRCm39) R39G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdcp3 A T 7: 130,849,194 (GRCm39) D899V possibly damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Col6a1 T A 10: 76,554,239 (GRCm39) K323* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dclre1c T C 2: 3,453,972 (GRCm39) F285S possibly damaging Het
Dctn2 T G 10: 127,114,234 (GRCm39) M360R probably benign Het
Dele1 T C 18: 38,394,340 (GRCm39) probably null Het
Dgka A T 10: 128,563,963 (GRCm39) L462Q probably damaging Het
Drg2 A C 11: 60,358,972 (GRCm39) K364T probably damaging Het
Dync1li1 T A 9: 114,535,238 (GRCm39) S167R probably damaging Het
Entrep1 T C 19: 23,956,799 (GRCm39) T365A probably benign Het
Fer A T 17: 64,336,286 (GRCm39) D554V possibly damaging Het
Fignl2 A G 15: 100,951,830 (GRCm39) S151P possibly damaging Het
Gm6526 T A 14: 43,986,302 (GRCm39) I79K probably damaging Het
Gpr6 T G 10: 40,946,604 (GRCm39) N326T probably damaging Het
H2bc4 C T 13: 23,868,486 (GRCm39) T91M probably damaging Het
Hcn4 C T 9: 58,751,178 (GRCm39) T268M probably benign Het
Hnf4g A G 3: 3,713,154 (GRCm39) M243V possibly damaging Het
Homer1 A G 13: 93,538,577 (GRCm39) E314G probably damaging Het
Hs6st1 T C 1: 36,143,108 (GRCm39) Y348H probably damaging Het
Ifitm6 A T 7: 140,595,984 (GRCm39) I103N probably damaging Het
Ipo5 T G 14: 121,181,305 (GRCm39) C944G possibly damaging Het
Kcnb1 C A 2: 166,947,595 (GRCm39) E418* probably null Het
Kcnk2 G A 1: 188,988,924 (GRCm39) R207C probably damaging Het
Kctd8 T C 5: 69,498,505 (GRCm39) E47G probably damaging Het
Klhdc2 C T 12: 69,354,371 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,509,140 (GRCm39) probably benign Het
Mgat1 A G 11: 49,152,072 (GRCm39) Y185C probably damaging Het
Mmp25 T A 17: 23,863,044 (GRCm39) R122S probably damaging Het
Mrpl39 C A 16: 84,522,012 (GRCm39) probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nek1 T C 8: 61,559,898 (GRCm39) F1007S probably damaging Het
Neto1 T C 18: 86,422,981 (GRCm39) M146T probably benign Het
Opn1sw G A 6: 29,379,423 (GRCm39) R45* probably null Het
Osbpl5 A T 7: 143,263,552 (GRCm39) C98* probably null Het
Pacc1 T A 1: 191,080,629 (GRCm39) V283E probably damaging Het
Pcdhb7 C T 18: 37,476,535 (GRCm39) A557V probably benign Het
Pecam1 A G 11: 106,586,748 (GRCm39) F155L possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pmfbp1 C A 8: 110,257,265 (GRCm39) Q609K probably benign Het
Pnpo A T 11: 96,831,795 (GRCm39) probably null Het
Ppp2cb G A 8: 34,107,077 (GRCm39) R254Q probably benign Het
Qser1 A T 2: 104,619,766 (GRCm39) S349T probably damaging Het
Rnf167 T A 11: 70,538,743 (GRCm39) W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 (GRCm38) noncoding transcript Het
Rxfp2 A T 5: 149,972,265 (GRCm39) H158L probably benign Het
Ryr3 C T 2: 112,661,569 (GRCm39) C1807Y probably damaging Het
Scaper T A 9: 55,745,464 (GRCm39) E601D probably damaging Het
Secisbp2l A T 2: 125,594,835 (GRCm39) C542S probably benign Het
Slc6a19 A G 13: 73,832,514 (GRCm39) V393A possibly damaging Het
Stil A G 4: 114,866,574 (GRCm39) N176S probably benign Het
Tap1 T A 17: 34,407,353 (GRCm39) probably null Het
Tcl1b3 A T 12: 105,159,844 (GRCm39) Q105L probably damaging Het
Trappc10 G T 10: 78,053,022 (GRCm39) A251D probably damaging Het
Trim43a G T 9: 88,464,206 (GRCm39) C39F probably damaging Het
Ttn A T 2: 76,719,825 (GRCm39) probably benign Het
Vmn2r110 A T 17: 20,803,951 (GRCm39) L208* probably null Het
Vmn2r88 G T 14: 51,655,538 (GRCm39) L583F probably damaging Het
Wasf1 C T 10: 40,812,578 (GRCm39) H456Y unknown Het
Zfp120 A G 2: 149,960,105 (GRCm39) I73T possibly damaging Het
Zfp990 T C 4: 145,263,298 (GRCm39) C99R possibly damaging 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
R0031:Gbgt1 UTSW 2 28,388,462 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGGCCCTATGCTAGATATGGG -3'
(R):5'- ATGTTGGAAGGCTGGAATCTC -3'

Sequencing Primer
(F):5'- CTAGATATGGGTCCTTACTCTGCAG -3'
(R):5'- TCGAGTCTACGGCAGCTCTAAG -3'
Posted On 2015-07-07