Incidental Mutation 'R0684:Pigf'
ID 218639
Institutional Source Beutler Lab
Gene Symbol Pigf
Ensembl Gene ENSMUSG00000024145
Gene Name phosphatidylinositol glycan anchor biosynthesis, class F
Synonyms
MMRRC Submission 038869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0684 (G1)
Quality Score 80
Status Validated
Chromosome 17
Chromosomal Location 87304684-87332834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87327923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 115 (F115I)
Ref Sequence ENSEMBL: ENSMUSP00000024957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024957]
AlphaFold O09101
Predicted Effect probably benign
Transcript: ENSMUST00000024957
AA Change: F115I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: F115I

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Meta Mutation Damage Score 0.1151 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.1%
  • 20x: 88.8%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,428 (GRCm39) L731H probably damaging Het
Adora2b C T 11: 62,139,995 (GRCm39) A23V probably benign Het
Ankrd17 T C 5: 90,411,857 (GRCm39) I1336V probably damaging Het
Asxl1 G A 2: 153,239,442 (GRCm39) R410H probably damaging Het
Atp8a2 T C 14: 60,260,593 (GRCm39) E419G probably benign Het
Atxn1l A T 8: 110,459,016 (GRCm39) N415K probably damaging Het
Bcl2l12 T A 7: 44,646,025 (GRCm39) T65S probably benign Het
Bdh2 A G 3: 134,996,774 (GRCm39) I90V probably benign Het
Bsph1 T A 7: 13,206,988 (GRCm39) N121K probably damaging Het
Cd96 T C 16: 45,938,153 (GRCm39) Y104C possibly damaging Het
Chdh T C 14: 29,753,570 (GRCm39) W160R probably damaging Het
Clock A G 5: 76,393,365 (GRCm39) F193L probably damaging Het
Copz1 A G 15: 103,204,958 (GRCm39) probably null Het
Cyp2c38 T C 19: 39,379,500 (GRCm39) T450A probably damaging Het
Cyp2d34 A T 15: 82,501,751 (GRCm39) I253K probably benign Het
Dhrs13 G T 11: 77,927,789 (GRCm39) A212S probably damaging Het
Ecsit T C 9: 21,987,796 (GRCm39) N81S probably benign Het
Efl1 A G 7: 82,301,094 (GRCm39) T33A probably damaging Het
Emid1 T C 11: 5,093,866 (GRCm39) R92G probably damaging Het
Ermp1 A G 19: 29,609,941 (GRCm39) probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Hps5 A G 7: 46,432,893 (GRCm39) probably null Het
Hsd17b3 T C 13: 64,236,882 (GRCm39) M21V probably benign Het
Kat6b T C 14: 21,718,849 (GRCm39) V1176A probably benign Het
Midn A G 10: 79,992,336 (GRCm39) K463E probably damaging Het
Mier1 A G 4: 102,996,631 (GRCm39) E103G probably damaging Het
Muc15 A G 2: 110,564,160 (GRCm39) N232S possibly damaging Het
Ncoa2 T A 1: 13,294,875 (GRCm39) E15V probably damaging Het
Or10a5 A T 7: 106,635,889 (GRCm39) N176Y probably damaging Het
Or2n1d A G 17: 38,646,735 (GRCm39) K229R probably benign Het
Or52n2b T A 7: 104,565,841 (GRCm39) T221S probably benign Het
Pate14 C T 9: 36,549,176 (GRCm39) G28E probably benign Het
Prpsap1 A T 11: 116,362,317 (GRCm39) V355E probably damaging Het
Ptprk G T 10: 28,359,294 (GRCm39) probably benign Het
Rae1 G A 2: 172,846,957 (GRCm39) R67H probably damaging Het
Sema3a G A 5: 13,606,494 (GRCm39) probably null Het
Slc22a22 T C 15: 57,126,758 (GRCm39) T104A probably benign Het
Slc38a2 A T 15: 96,593,168 (GRCm39) L137* probably null Het
Smgc A G 15: 91,725,670 (GRCm39) probably benign Het
Syce3 A G 15: 89,274,648 (GRCm39) probably benign Het
Syt9 T A 7: 107,024,343 (GRCm39) W79R probably damaging Het
Tgoln1 A C 6: 72,592,974 (GRCm39) S169A probably benign Het
Thnsl1 A G 2: 21,216,477 (GRCm39) D77G probably benign Het
Tsr1 T A 11: 74,798,767 (GRCm39) V712E probably damaging Het
Wdr12 C T 1: 60,128,525 (GRCm39) probably benign Het
Xdh T A 17: 74,250,886 (GRCm39) N22I probably damaging Het
Zfp3 T A 11: 70,662,395 (GRCm39) L118Q probably benign Het
Zfp592 A G 7: 80,687,623 (GRCm39) N883D probably benign Het
Zfp609 T A 9: 65,638,483 (GRCm39) M250L probably benign Het
Zfp94 A T 7: 24,002,495 (GRCm39) S316T probably damaging Het
Zfp955b A G 17: 33,521,947 (GRCm39) N472S probably benign Het
Other mutations in Pigf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pigf APN 17 87,327,876 (GRCm39) missense probably null 0.41
IGL01484:Pigf APN 17 87,316,308 (GRCm39) missense probably benign 0.04
R0506:Pigf UTSW 17 87,316,337 (GRCm39) missense probably benign 0.00
R0987:Pigf UTSW 17 87,304,973 (GRCm39) missense probably damaging 1.00
R4295:Pigf UTSW 17 87,331,184 (GRCm39) missense probably benign 0.00
R5365:Pigf UTSW 17 87,331,136 (GRCm39) missense possibly damaging 0.62
R6287:Pigf UTSW 17 87,304,967 (GRCm39) missense probably damaging 1.00
R8420:Pigf UTSW 17 87,327,910 (GRCm39) nonsense probably null
R8465:Pigf UTSW 17 87,304,964 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- GGCACTGCCTAGAAACGCTCATAG -3'
(R):5'- GCAGAGCAGGAAAGTCTTGTCTTGG -3'

Sequencing Primer
(F):5'- CGCTCATAGGATGAGTATATTGACAC -3'
(R):5'- TGTGTATGTGCACCGCTAAG -3'
Posted On 2014-08-18