Incidental Mutation 'R7288:Pigt'
ID 566140
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 045395-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R7288 (G1)
Quality Score 214.458
Status Not validated
Chromosome 2
Chromosomal Location 164339461-164350221 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT to CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT at 164341589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103101] [ENSMUST00000117066]
AlphaFold Q8BXQ2
Predicted Effect probably null
Transcript: ENSMUST00000103101
SMART Domains Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721

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

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: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cdk6 T A 5: 3,479,001 (GRCm39) F127Y probably benign Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Crygb A G 1: 65,121,084 (GRCm39) L81P probably benign Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Evpl T C 11: 116,114,775 (GRCm39) N972D probably benign Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Gemin4 A T 11: 76,104,206 (GRCm39) M185K possibly damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Khdrbs3 A G 15: 68,921,262 (GRCm39) E281G possibly damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G probably 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
R7449:Pigt UTSW 2 164,344,419 (GRCm39) missense probably damaging 1.00
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'- AGTGTTCCCAGGCAAGATGG -3'
(R):5'- ATGCACAGAAGATCCCCGAG -3'

Sequencing Primer
(F):5'- TTCCCAGGCAAGATGGACACTTG -3'
(R):5'- AGAGGACATTGCTGAGCTCC -3'
Posted On 2019-06-26