Incidental Mutation 'IGL01586:Gbgt1'
ID91794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Namegloboside alpha-1,3-N-acetylgalactosaminyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01586
Quality Score
Status
Chromosome2
Chromosomal Location28496891-28505415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28497830 bp
ZygosityHeterozygous
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]
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: 48,128,515 Y144N unknown Het
Abca9 A C 11: 110,154,417 C363W probably damaging Het
Acmsd G A 1: 127,759,710 R243H probably damaging Het
Adam33 T C 2: 131,054,050 T490A probably damaging Het
Ank1 A G 8: 23,120,912 D1411G probably benign Het
Arhgap39 T C 15: 76,730,438 E842G probably benign Het
Asgr2 T C 11: 70,105,367 probably benign Het
Bbs9 T C 9: 22,645,997 V14A possibly damaging Het
Cer1 A G 4: 82,884,843 S81P probably damaging Het
Cln6 T A 9: 62,844,618 H41Q probably damaging Het
Dock1 A G 7: 134,753,377 D334G probably damaging Het
Dpy19l2 A G 9: 24,666,975 I261T probably benign Het
Fhod3 T G 18: 25,090,747 I1050S probably damaging Het
Izumo3 A G 4: 92,146,295 probably null Het
Kif11 T C 19: 37,384,233 probably benign Het
Krt2 C A 15: 101,811,390 G615V unknown Het
Midn A G 10: 80,156,643 probably benign Het
Mier1 C T 4: 103,155,572 T342I probably damaging Het
Mycbp2 A T 14: 103,140,869 probably null Het
Nrp1 A T 8: 128,432,032 S267C possibly damaging Het
Olfr145 A G 9: 37,897,976 T191A possibly damaging Het
Pcdh20 A T 14: 88,470,908 M28K probably benign Het
Prmt5 G A 14: 54,509,951 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps6ka5 T C 12: 100,570,914 E519G probably damaging Het
Samm50 T A 15: 84,195,838 I39N probably benign Het
Shc2 A T 10: 79,622,304 M515K probably damaging Het
Sorbs2 T A 8: 45,795,594 F608L probably damaging Het
Sos2 T C 12: 69,607,398 K727E probably damaging Het
Sox13 A T 1: 133,389,444 H150Q possibly damaging Het
Tmem132e T C 11: 82,434,669 V165A probably damaging Het
Trmt11 T C 10: 30,597,751 T43A probably benign Het
Tyrp1 G T 4: 80,844,898 V341L probably benign Het
Ugt2b35 C A 5: 87,011,391 H481Q probably benign Het
Zzz3 T A 3: 152,455,839 I290N possibly damaging Het
Other mutations in Gbgt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gbgt1 APN 2 28502195 critical splice acceptor site probably null
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
R2221:Gbgt1 UTSW 2 28498423 missense probably damaging 1.00
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
Posted On2013-12-09