Incidental Mutation 'IGL01586:Gbgt1'
ID 91794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Name globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01586
Quality Score
Status
Chromosome 2
Chromosomal Location 28386903-28395427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28387842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Ref Sequence ENSEMBL: ENSMUSP00000127071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000163121]
AlphaFold Q8VI38
Predicted Effect probably benign
Transcript: ENSMUST00000028172
AA Change: V22A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: V22A

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 benign
Transcript: ENSMUST00000163121
AA Change: V22A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: V22A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 347 1.9e-152 PFAM
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,125 (GRCm39) Y144N unknown Het
Abca9 A C 11: 110,045,243 (GRCm39) C363W probably damaging Het
Acmsd G A 1: 127,687,447 (GRCm39) R243H probably damaging Het
Adam33 T C 2: 130,895,970 (GRCm39) T490A probably damaging Het
Ank1 A G 8: 23,610,928 (GRCm39) D1411G probably benign Het
Arhgap39 T C 15: 76,614,638 (GRCm39) E842G probably benign Het
Asgr2 T C 11: 69,996,193 (GRCm39) probably benign Het
Bbs9 T C 9: 22,557,293 (GRCm39) V14A possibly damaging Het
Cer1 A G 4: 82,803,080 (GRCm39) S81P probably damaging Het
Cln6 T A 9: 62,751,900 (GRCm39) H41Q probably damaging Het
Dock1 A G 7: 134,355,106 (GRCm39) D334G probably damaging Het
Dpy19l2 A G 9: 24,578,271 (GRCm39) I261T probably benign Het
Fhod3 T G 18: 25,223,804 (GRCm39) I1050S probably damaging Het
Izumo3 A G 4: 92,034,532 (GRCm39) probably null Het
Kif11 T C 19: 37,372,681 (GRCm39) probably benign Het
Krt1c C A 15: 101,719,825 (GRCm39) G615V unknown Het
Midn A G 10: 79,992,477 (GRCm39) probably benign Het
Mier1 C T 4: 103,012,769 (GRCm39) T342I probably damaging Het
Mycbp2 A T 14: 103,378,305 (GRCm39) probably null Het
Nrp1 A T 8: 129,158,513 (GRCm39) S267C possibly damaging Het
Or8b8 A G 9: 37,809,272 (GRCm39) T191A possibly damaging Het
Pcdh20 A T 14: 88,708,344 (GRCm39) M28K probably benign Het
Prmt5 G A 14: 54,747,408 (GRCm39) probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rps6ka5 T C 12: 100,537,173 (GRCm39) E519G probably damaging Het
Samm50 T A 15: 84,080,039 (GRCm39) I39N probably benign Het
Shc2 A T 10: 79,458,138 (GRCm39) M515K probably damaging Het
Sorbs2 T A 8: 46,248,631 (GRCm39) F608L probably damaging Het
Sos2 T C 12: 69,654,172 (GRCm39) K727E probably damaging Het
Sox13 A T 1: 133,317,182 (GRCm39) H150Q possibly damaging Het
Tmem132e T C 11: 82,325,495 (GRCm39) V165A probably damaging Het
Trmt11 T C 10: 30,473,747 (GRCm39) T43A probably benign Het
Tyrp1 G T 4: 80,763,135 (GRCm39) V341L probably benign Het
Ugt2b35 C A 5: 87,159,250 (GRCm39) H481Q probably benign Het
Zzz3 T A 3: 152,161,476 (GRCm39) I290N possibly damaging Het
Other mutations in Gbgt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gbgt1 APN 2 28,392,207 (GRCm39) critical splice acceptor site probably null
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
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 2013-12-09