Incidental Mutation 'R7449:Pigt'
ID 577541
Institutional Source Beutler Lab
Gene Symbol Pigt
Ensembl Gene ENSMUSG00000017721
Gene Name phosphatidylinositol glycan anchor biosynthesis, class T
Synonyms Ndap7, CGI-06, 4930534E15Rik, NDAP, 2510012P17Rik
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R7449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164339461-164350221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164344419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 356 (L356P)
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: L356P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: L356P

DomainStartEndE-ValueType
Pfam:Gpi16 22 576 4.9e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117066
AA Change: L356P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721
AA Change: L356P

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

DomainStartEndE-ValueType
Pfam:Gpi16 21 134 2.7e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,035,131 (GRCm39) Y306N possibly damaging Het
Adgrv1 A T 13: 81,647,192 (GRCm39) V3116D probably damaging Het
Adss1 A T 12: 112,600,585 (GRCm39) T185S probably damaging Het
Ago2 G A 15: 73,018,348 (GRCm39) P30L probably damaging Het
Arb2a A G 13: 77,907,561 (GRCm39) I41V probably damaging Het
Atp5pf C T 16: 84,628,251 (GRCm39) V44M probably benign Het
Atp7b T A 8: 22,501,865 (GRCm39) I833F probably damaging Het
Birc6 T A 17: 75,009,336 (GRCm39) N4869K probably benign Het
Cacna1c C T 6: 118,579,310 (GRCm39) D1796N Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cnga1 A G 5: 72,762,647 (GRCm39) I289T probably benign Het
Crybg1 C A 10: 43,880,515 (GRCm39) E224D probably benign Het
Dysf T C 6: 84,114,362 (GRCm39) L1217P possibly damaging Het
Ebf2 T A 14: 67,647,469 (GRCm39) N339K probably damaging Het
Eva1c T C 16: 90,673,081 (GRCm39) probably null Het
Fam184a T C 10: 53,574,730 (GRCm39) E293G probably damaging Het
Folh1 G A 7: 86,380,956 (GRCm39) P506S probably benign Het
Ftcd A T 10: 76,415,997 (GRCm39) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm39) V6D possibly damaging Het
Ghitm C A 14: 36,853,538 (GRCm39) G101C probably damaging Het
Gimap5 T A 6: 48,729,838 (GRCm39) V136D probably damaging Het
Grm4 C T 17: 27,654,345 (GRCm39) G535D probably damaging Het
Gse1 T C 8: 120,956,450 (GRCm39) S314P unknown Het
Hnrnpdl A G 5: 100,185,014 (GRCm39) I279T probably damaging Het
Idi2l T A 13: 8,993,340 (GRCm39) H51L probably damaging Het
Itpr1 T C 6: 108,366,345 (GRCm39) S923P probably damaging Het
Krt39 C A 11: 99,408,887 (GRCm39) C303F probably benign Het
Lrrn1 T C 6: 107,545,482 (GRCm39) S427P possibly damaging Het
Lrrn3 T A 12: 41,503,487 (GRCm39) R277W probably damaging Het
Ltb4r1 T C 14: 56,005,375 (GRCm39) L226P probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mcoln1 T C 8: 3,557,285 (GRCm39) L125P probably damaging Het
Nid1 T G 13: 13,656,636 (GRCm39) V589G probably damaging Het
Nlrp5 T G 7: 23,116,951 (GRCm39) F225C probably benign Het
Notch3 C T 17: 32,376,940 (GRCm39) A322T probably damaging Het
Or14c43 A G 7: 86,115,063 (GRCm39) H148R probably benign Het
Or52a5b G T 7: 103,417,026 (GRCm39) Q193K probably benign Het
Or7g34 T A 9: 19,478,162 (GRCm39) T173S probably benign Het
Otogl A G 10: 107,639,524 (GRCm39) C1363R probably damaging Het
Ovol1 T A 19: 5,603,625 (GRCm39) D92V probably benign Het
Plekhg3 A G 12: 76,612,996 (GRCm39) Q434R probably damaging Het
Plekhh1 T C 12: 79,126,326 (GRCm39) F1344L probably benign Het
Polr1has A G 17: 37,275,275 (GRCm39) D16G probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Pus1 A G 5: 110,922,452 (GRCm39) L405P probably damaging Het
Qtrt2 T A 16: 43,701,395 (GRCm39) H55L probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Raver2 T A 4: 100,959,860 (GRCm39) H113Q probably damaging Het
Recql4 T C 15: 76,589,765 (GRCm39) D760G unknown Het
Rhobtb3 C T 13: 76,058,860 (GRCm39) V313M probably benign Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf185 T C 11: 3,376,578 (GRCm39) Q135R probably benign Het
Sema3f T C 9: 107,561,235 (GRCm39) S584G probably damaging Het
Sh3pxd2a T A 19: 47,256,091 (GRCm39) T904S probably benign Het
Slc4a10 T C 2: 62,134,290 (GRCm39) V1002A probably benign Het
Taf1b T C 12: 24,554,992 (GRCm39) I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tenm4 A T 7: 96,523,420 (GRCm39) D1654V possibly damaging Het
Tgfb1 G A 7: 25,404,263 (GRCm39) V357M probably damaging Het
Tnxb C T 17: 34,922,335 (GRCm39) P2383S possibly damaging Het
Trpm1 A T 7: 63,858,723 (GRCm39) M382L probably benign Het
Trrap A G 5: 144,788,019 (GRCm39) Y3516C probably damaging Het
Txnrd1 T A 10: 82,721,067 (GRCm39) Y494* probably null Het
Ubr2 C T 17: 47,275,714 (GRCm39) E811K probably damaging Het
Ubxn4 T A 1: 128,172,280 (GRCm39) F25I possibly damaging Het
Vmn2r117 A G 17: 23,678,869 (GRCm39) M785T probably damaging Het
Vmn2r99 G A 17: 19,599,407 (GRCm39) D364N probably benign Het
Vps45 C A 3: 95,954,448 (GRCm39) probably null Het
Wdr25 A C 12: 108,992,367 (GRCm39) H426P probably damaging Het
Wdr83 A T 8: 85,806,310 (GRCm39) W136R probably damaging Het
Xylt1 A C 7: 117,191,232 (GRCm39) I343L possibly damaging Het
Zscan4b T C 7: 10,637,985 (GRCm39) Q53R possibly damaging Het
Other mutations in Pigt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03076:Pigt APN 2 164,339,585 (GRCm39) missense probably damaging 1.00
BB003:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R1548:Pigt UTSW 2 164,343,439 (GRCm39) missense probably benign 0.37
R1551:Pigt UTSW 2 164,349,323 (GRCm39) missense probably damaging 0.99
R1605:Pigt UTSW 2 164,349,419 (GRCm39) missense probably damaging 1.00
R3712:Pigt UTSW 2 164,343,565 (GRCm39) missense probably benign 0.00
R3848:Pigt UTSW 2 164,340,500 (GRCm39) critical splice donor site probably benign
R4672:Pigt UTSW 2 164,339,498 (GRCm39) unclassified probably benign
R4719:Pigt UTSW 2 164,343,544 (GRCm39) missense probably damaging 0.98
R5481:Pigt UTSW 2 164,348,342 (GRCm39) missense probably damaging 1.00
R5567:Pigt UTSW 2 164,343,482 (GRCm39) nonsense probably null
R5570:Pigt UTSW 2 164,343,482 (GRCm39) nonsense probably null
R5998:Pigt UTSW 2 164,349,374 (GRCm39) missense possibly damaging 0.82
R6112:Pigt UTSW 2 164,348,365 (GRCm39) nonsense probably null
R6816:Pigt UTSW 2 164,343,052 (GRCm39) missense probably damaging 1.00
R6889:Pigt UTSW 2 164,349,251 (GRCm39) missense probably damaging 1.00
R7019:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R7037:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R7197:Pigt UTSW 2 164,344,436 (GRCm39) missense probably damaging 1.00
R7288:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R7822:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R7926:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8005:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8019:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8330:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8675:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8893:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R8968:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9155:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9334:Pigt UTSW 2 164,349,420 (GRCm39) makesense probably null
R9386:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9418:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9426:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9558:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9637:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
R9676:Pigt UTSW 2 164,341,589 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCTCTGTAAGCGAGGGAAGATG -3'
(R):5'- CTTGCCCTTGGAGGTAATGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TAATGGTGAGCGTGTGCACATAC -3'
Posted On 2019-10-07