Incidental Mutation 'R6889:Pigt'
ID 537086
Institutional Source Beutler Lab
Gene Symbol Pigt
Ensembl Gene ENSMUSG00000017721
Gene Name phosphatidylinositol glycan anchor biosynthesis, class T
Synonyms 2510012P17Rik, 4930534E15Rik, NDAP, Ndap7, CGI-06
MMRRC Submission 044983-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.791) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164497520-164508301 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164507331 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 518 (L518Q)
Ref Sequence ENSEMBL: ENSMUSP00000099390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103101] [ENSMUST00000117066]
AlphaFold Q8BXQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000103101
AA Change: L518Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: L518Q

Pfam:Gpi16 22 576 4.9e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117066
SMART Domains Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721

Pfam:Gpi16 11 419 4.9e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152522
SMART Domains Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721

Pfam:Gpi16 21 134 2.7e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation do not survive. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,943,053 (GRCm38) D103E probably benign Het
Abcc3 A T 11: 94,375,555 (GRCm38) S70T possibly damaging Het
Atp6v0a1 A G 11: 101,029,183 (GRCm38) Y214C possibly damaging Het
Azi2 A G 9: 118,049,895 (GRCm38) probably null Het
BC067074 C A 13: 113,318,378 (GRCm38) S319R probably damaging Het
Cacnb2 T A 2: 14,986,015 (GRCm38) V636E possibly damaging Het
Cd8a A C 6: 71,374,562 (GRCm38) T169P probably damaging Het
Cfap44 G A 16: 44,404,132 (GRCm38) V68I probably benign Het
Eea1 G T 10: 96,037,478 (GRCm38) C1134F probably benign Het
Ehmt2 T G 17: 34,912,772 (GRCm38) F1192V probably damaging Het
Emc1 T C 4: 139,365,350 (GRCm38) F531L probably damaging Het
Eme1 G A 11: 94,650,477 (GRCm38) T173I probably benign Het
Gli2 A T 1: 118,844,416 (GRCm38) C520S probably damaging Het
Gm43302 T C 5: 105,280,138 (GRCm38) K186E probably benign Het
Gpr108 A T 17: 57,236,990 (GRCm38) N405K probably damaging Het
Hmgcl C A 4: 135,955,642 (GRCm38) T135N probably benign Het
Hydin G A 8: 110,532,856 (GRCm38) D2487N possibly damaging Het
Igfl3 G T 7: 18,179,800 (GRCm38) R25L probably benign Het
Igsf10 A C 3: 59,331,933 (GRCm38) S276A probably benign Het
Kctd1 A G 18: 14,973,988 (GRCm38) S211P probably damaging Het
Kctd7 A T 5: 130,152,501 (GRCm38) Q255L probably benign Het
Lrig1 A G 6: 94,625,063 (GRCm38) Y270H probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myh15 A G 16: 49,153,111 (GRCm38) N1248S possibly damaging Het
Nod1 A G 6: 54,944,109 (GRCm38) F408S probably benign Het
Nrp1 T C 8: 128,493,057 (GRCm38) F652S probably damaging Het
Olfr1338 G A 4: 118,754,307 (GRCm38) T79I probably damaging Het
Olfr487 A T 7: 108,211,918 (GRCm38) F204I probably benign Het
Olfr574 A T 7: 102,948,768 (GRCm38) H91L possibly damaging Het
Olfr821 T C 10: 130,034,532 (GRCm38) M302T probably benign Het
Opa1 G T 16: 29,620,868 (GRCm38) R792L probably benign Het
Pcdha6 G T 18: 36,968,343 (GRCm38) L196F probably damaging Het
Pdia2 A T 17: 26,196,970 (GRCm38) Y347* probably null Het
Pdpr G T 8: 111,124,613 (GRCm38) probably null Het
Ppfibp2 A C 7: 107,737,981 (GRCm38) D591A possibly damaging Het
Prrg2 G A 7: 45,059,989 (GRCm38) T97M possibly damaging Het
Qars A G 9: 108,513,183 (GRCm38) T428A probably damaging Het
Rai1 T C 11: 60,185,715 (GRCm38) F202L probably damaging Het
Rars A T 11: 35,808,486 (GRCm38) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,925 (GRCm38) probably benign Het
Slc16a6 A C 11: 109,455,040 (GRCm38) F382V probably damaging Het
Slc30a7 T C 3: 115,954,153 (GRCm38) T330A probably damaging Het
Smc1b A T 15: 85,067,759 (GRCm38) L1157Q probably damaging Het
Snx4 G T 16: 33,251,470 (GRCm38) A4S possibly damaging Het
Sv2b A C 7: 75,125,767 (GRCm38) probably null Het
Syt9 A T 7: 107,425,286 (GRCm38) I129L probably damaging Het
Ttbk2 T C 2: 120,773,353 (GRCm38) E198G probably damaging Het
Ubr3 A T 2: 69,944,300 (GRCm38) D488V possibly damaging Het
Ush2a T A 1: 188,797,871 (GRCm38) C3286S probably damaging Het
Vill A G 9: 119,065,882 (GRCm38) D56G possibly damaging Het
Vmn1r41 A T 6: 89,747,370 (GRCm38) I298F probably damaging Het
Vmn2r2 A T 3: 64,117,267 (GRCm38) V631D probably damaging Het
Vmn2r32 A G 7: 7,472,574 (GRCm38) S437P possibly damaging Het
Vmn2r53 A G 7: 12,601,142 (GRCm38) V197A probably benign Het
Wasf1 A T 10: 40,920,369 (GRCm38) I32F probably damaging Het
Wasf2 G T 4: 133,194,730 (GRCm38) A387S unknown Het
Wdr92 G A 11: 17,222,309 (GRCm38) V133M probably damaging Het
Zbtb14 G A 17: 69,387,679 (GRCm38) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm38) A37S probably damaging Het
Zfp532 A G 18: 65,686,990 (GRCm38) E882G possibly damaging Het
Other mutations in Pigt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03076:Pigt APN 2 164,497,665 (GRCm38) missense probably damaging 1.00
BB003:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R1548:Pigt UTSW 2 164,501,519 (GRCm38) missense probably benign 0.37
R1551:Pigt UTSW 2 164,507,403 (GRCm38) missense probably damaging 0.99
R1605:Pigt UTSW 2 164,507,499 (GRCm38) missense probably damaging 1.00
R3712:Pigt UTSW 2 164,501,645 (GRCm38) missense probably benign 0.00
R3848:Pigt UTSW 2 164,498,580 (GRCm38) critical splice donor site probably benign
R4672:Pigt UTSW 2 164,497,578 (GRCm38) unclassified probably benign
R4719:Pigt UTSW 2 164,501,624 (GRCm38) missense probably damaging 0.98
R5481:Pigt UTSW 2 164,506,422 (GRCm38) missense probably damaging 1.00
R5567:Pigt UTSW 2 164,501,562 (GRCm38) nonsense probably null
R5570:Pigt UTSW 2 164,501,562 (GRCm38) nonsense probably null
R5998:Pigt UTSW 2 164,507,454 (GRCm38) missense possibly damaging 0.82
R6112:Pigt UTSW 2 164,506,445 (GRCm38) nonsense probably null
R6816:Pigt UTSW 2 164,501,132 (GRCm38) missense probably damaging 1.00
R7019:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R7037:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R7197:Pigt UTSW 2 164,502,516 (GRCm38) missense probably damaging 1.00
R7288:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R7449:Pigt UTSW 2 164,502,499 (GRCm38) missense probably damaging 1.00
R7822:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R7926:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8005:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8019:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8330:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8675:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8893:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R8968:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9155:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9334:Pigt UTSW 2 164,507,500 (GRCm38) makesense probably null
R9386:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9418:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9426:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9558:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9637:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
R9676:Pigt UTSW 2 164,499,669 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-10-18