Incidental Mutation 'R3848:Pigt'
ID 275742
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 040896-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R3848 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164339461-164350221 bp(+) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) G to A at 164340500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000103101] [ENSMUST00000117066]
AlphaFold Q8BXQ2
Predicted Effect probably benign
Transcript: ENSMUST00000103101
SMART Domains Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721

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

DomainStartEndE-ValueType
Pfam:Gpi16 11 419 4.9e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138038
Predicted Effect probably benign
Transcript: ENSMUST00000152522
SMART Domains Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721

DomainStartEndE-ValueType
Pfam:Gpi16 21 134 2.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152522
SMART Domains Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721

DomainStartEndE-ValueType
Pfam:Gpi16 21 134 2.7e-28 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Adgrv1 A G 13: 81,588,191 (GRCm39) V4465A probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Anxa2 G T 9: 69,374,624 (GRCm39) D34Y probably damaging Het
Asic1 A G 15: 99,570,814 (GRCm39) N143S probably benign Het
Catsperb A C 12: 101,475,585 (GRCm39) Q376H probably damaging Het
Cd72 T C 4: 43,452,525 (GRCm39) E132G possibly damaging Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Col15a1 T C 4: 47,289,374 (GRCm39) V48A possibly damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpeb2 T G 5: 43,394,788 (GRCm39) S64A probably damaging Het
Cplx3 G A 9: 57,515,600 (GRCm39) A425V possibly damaging Het
Ctsc A G 7: 87,958,818 (GRCm39) H366R probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Efhb A T 17: 53,734,024 (GRCm39) probably benign Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Fbxo38 G A 18: 62,648,144 (GRCm39) S798F possibly damaging Het
Fggy T C 4: 95,489,361 (GRCm39) probably benign Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Hoxd8 A G 2: 74,535,929 (GRCm39) Y13C possibly damaging Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Jph2 G A 2: 163,181,332 (GRCm39) P611S probably benign Het
Kifbp A G 10: 62,405,249 (GRCm39) Y64H probably damaging Het
Kndc1 T C 7: 139,488,893 (GRCm39) S183P probably damaging Het
L3mbtl1 A G 2: 162,790,121 (GRCm39) E132G probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrpprc T C 17: 85,078,355 (GRCm39) I308V probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Or51v8 A G 7: 103,319,908 (GRCm39) V110A probably damaging Het
Or52e8b A G 7: 104,673,539 (GRCm39) V216A probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Orc2 T C 1: 58,520,151 (GRCm39) T225A probably benign Het
P2ry1 G A 3: 60,910,880 (GRCm39) W6* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,963,785 (GRCm39) C71* probably null Het
Plcxd2 T C 16: 45,792,629 (GRCm39) T237A probably damaging Het
Pnrc1 T C 4: 33,246,252 (GRCm39) K236E probably damaging Het
Ppargc1b T A 18: 61,444,113 (GRCm39) D350V probably damaging Het
Rapgef6 T C 11: 54,582,134 (GRCm39) S1349P probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Sell A T 1: 163,893,230 (GRCm39) K149* probably null Het
Sidt1 A G 16: 44,076,322 (GRCm39) probably benign Het
Slc6a5 C G 7: 49,577,306 (GRCm39) probably benign Het
Slc7a14 A T 3: 31,291,623 (GRCm39) N218K probably damaging Het
Spice1 C T 16: 44,199,254 (GRCm39) R569* probably null Het
Stk35 G T 2: 129,642,656 (GRCm39) A66S probably benign Het
Tmem245 A G 4: 56,926,298 (GRCm39) probably benign Het
Tnxb A C 17: 34,909,369 (GRCm39) R1632S possibly damaging Het
Ttc6 G A 12: 57,723,932 (GRCm39) R1020H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Vmn2r15 A T 5: 109,445,312 (GRCm39) D37E probably benign Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G 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
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
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'- TAGGTAGCGGTCACACCAAG -3'
(R):5'- TTCACAAAGACCATCCTGTAGC -3'

Sequencing Primer
(F):5'- CCTACATTAAAAGTCGGGTTGCTGC -3'
(R):5'- GACCATCCTGTAGCCCACTG -3'
Posted On 2015-04-06