Incidental Mutation 'R7839:Gbgt1'
ID 606146
Institutional Source Beutler Lab
Gene Symbol Gbgt1
Ensembl Gene ENSMUSG00000026829
Gene Name globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Synonyms
MMRRC Submission 045893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7839 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 28386903-28395427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28393182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000127071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000074761] [ENSMUST00000163121]
AlphaFold Q8VI38
Predicted Effect probably damaging
Transcript: ENSMUST00000028172
AA Change: V90A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: V90A

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_6 33 347 1.6e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074761
SMART Domains Protein: ENSMUSP00000082978
Gene: ENSMUSG00000063611

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127958
Predicted Effect probably damaging
Transcript: ENSMUST00000163121
AA Change: V90A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: V90A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 347 1.9e-152 PFAM
Meta Mutation Damage Score 0.8199 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Degs2 CTTAGTGAAT CT 12: 108,658,460 (GRCm39) probably null Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Glt8d1 G T 14: 30,723,788 (GRCm39) probably benign Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Or6c76b A T 10: 129,692,899 (GRCm39) I171F possibly damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tmt1a T C 15: 100,202,957 (GRCm39) V77A possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp40 T C 17: 23,395,963 (GRCm39) D208G probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I 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
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
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'- TGTGTGTCTATCCCAACTCTCAGG -3'
(R):5'- CATACTCCACAGCACTTGGC -3'

Sequencing Primer
(F):5'- AACTCTCAGGCTGCCCAG -3'
(R):5'- AGCACTTGGCCAGGCAG -3'
Posted On 2019-12-20