Incidental Mutation 'R8005:Pigt'
ID 616553
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 046045-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R8005 (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: 99.8%
  • 20x: 99.3%
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
Acot1 A G 12: 84,063,774 (GRCm39) D294G probably benign Het
Ak8 A T 2: 28,602,314 (GRCm39) S83C probably benign Het
Ankrd34b C A 13: 92,575,230 (GRCm39) A154E possibly damaging Het
Anks1 A G 17: 28,278,341 (GRCm39) D1175G probably damaging Het
Ano4 T A 10: 88,807,183 (GRCm39) L799F probably benign Het
Aplp1 T C 7: 30,135,470 (GRCm39) probably null Het
Apob A T 12: 8,059,744 (GRCm39) H2742L probably benign Het
Apol7e C T 15: 77,602,277 (GRCm39) Q292* probably null Het
Atp2b1 G A 10: 98,830,661 (GRCm39) G374D probably damaging Het
B4galt5 A G 2: 167,143,384 (GRCm39) S347P probably damaging Het
Bcl11b T C 12: 107,882,456 (GRCm39) T620A probably benign Het
Bco2 T A 9: 50,450,213 (GRCm39) D329V probably damaging Het
Cd200l2 T C 16: 45,352,400 (GRCm39) probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Copg2 T A 6: 30,873,632 (GRCm39) M1L possibly damaging Het
D430041D05Rik G A 2: 104,088,599 (GRCm39) H164Y possibly damaging Het
Dscaml1 G T 9: 45,628,808 (GRCm39) G1121C probably damaging Het
Gas2l1 A T 11: 5,011,552 (GRCm39) S426T probably benign Het
Gm9195 T A 14: 72,663,840 (GRCm39) I2740F probably benign Het
Irgm1 A G 11: 48,757,217 (GRCm39) I214T probably damaging Het
Kbtbd3 C T 9: 4,330,655 (GRCm39) T343I probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Ly75 A T 2: 60,163,278 (GRCm39) Y804N probably damaging Het
Mgat2 A G 12: 69,232,722 (GRCm39) H432R probably damaging Het
Nsrp1 A T 11: 76,936,612 (GRCm39) M528K probably damaging Het
Nup54 T C 5: 92,576,006 (GRCm39) I162V probably benign Het
Obsl1 T A 1: 75,482,096 (GRCm39) N258I probably damaging Het
Or1j4 A G 2: 36,740,156 (GRCm39) T33A probably benign Het
Or2y1b G T 11: 49,208,968 (GRCm39) M198I probably benign Het
Or5p6 T C 7: 107,631,470 (GRCm39) R27G possibly damaging Het
Or5p73 T C 7: 108,064,693 (GRCm39) V54A probably benign Het
Pax2 G A 19: 44,749,328 (GRCm39) V20M probably damaging Het
Pigb A T 9: 72,922,546 (GRCm39) M13K unknown Het
Pik3c2a T C 7: 116,017,271 (GRCm39) Y162C probably damaging Het
Pik3c2g A T 6: 139,599,067 (GRCm39) D61V probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pramel17 A G 4: 101,694,448 (GRCm39) V145A probably damaging Het
Prss46 A G 9: 110,685,144 (GRCm39) D256G probably benign Het
Rims1 G T 1: 22,482,437 (GRCm39) D196E Het
Sbf1 A G 15: 89,178,408 (GRCm39) L1498P probably damaging Het
Sh2b1 T C 7: 126,068,479 (GRCm39) D444G possibly damaging Het
Slc7a15 T G 12: 8,589,395 (GRCm39) M51L probably damaging Het
Slitrk1 T C 14: 109,150,697 (GRCm39) I5V probably benign Het
Spart T A 3: 55,024,773 (GRCm39) C123S probably benign Het
Sry C T Y: 2,663,303 (GRCm39) R119K possibly damaging Het
Tasor2 C T 13: 3,625,681 (GRCm39) S1423N probably benign Het
Tbcc T C 17: 47,201,686 (GRCm39) V24A possibly damaging Het
Tfap2a T A 13: 40,872,684 (GRCm39) M331L possibly damaging Het
Thnsl1 A G 2: 21,216,755 (GRCm39) I170V probably benign Het
Ticrr T G 7: 79,343,796 (GRCm39) S1220R probably damaging Het
Tmem262 T C 19: 6,130,507 (GRCm39) M77T possibly damaging Het
Tmem67 A G 4: 12,047,821 (GRCm39) S771P probably damaging Het
Tsc2 G A 17: 24,818,570 (GRCm39) A1423V probably damaging Het
Ubr4 T A 4: 139,139,941 (GRCm39) Y1175N probably damaging Het
Usp25 G A 16: 76,873,956 (GRCm39) A511T probably benign Het
Vmn2r115 T A 17: 23,563,124 (GRCm39) Y58* probably null Het
Wt1 T C 2: 104,957,789 (GRCm39) probably null Het
Zfp735 A T 11: 73,603,140 (GRCm39) K695* probably null Het
Zkscan14 A G 5: 145,132,568 (GRCm39) F321S possibly damaging Het
Zswim9 T C 7: 12,995,064 (GRCm39) E364G 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
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
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'- TTCCCAGGCAAGATGGACAC -3'
(R):5'- AGGGATGCACAGAAGATCCC -3'

Sequencing Primer
(F):5'- CTTGAACAAAGACCTGCAGGGC -3'
(R):5'- TGCACAGAAGATCCCCGAGAG -3'
Posted On 2020-01-23