Incidental Mutation 'R5365:Pigf'
ID 423105
Institutional Source Beutler Lab
Gene Symbol Pigf
Ensembl Gene ENSMUSG00000024145
Gene Name phosphatidylinositol glycan anchor biosynthesis, class F
Synonyms
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5365 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87304684-87332834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87331136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 62 (V62E)
Ref Sequence ENSEMBL: ENSMUSP00000024957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024957] [ENSMUST00000024959] [ENSMUST00000160269]
AlphaFold O09101
Predicted Effect possibly damaging
Transcript: ENSMUST00000024957
AA Change: V62E

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: V62E

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024959
SMART Domains Protein: ENSMUSP00000024959
Gene: ENSMUSG00000024146

DomainStartEndE-ValueType
Pfam:Cript 11 101 2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160269
SMART Domains Protein: ENSMUSP00000124994
Gene: ENSMUSG00000024146

DomainStartEndE-ValueType
Pfam:Cript 20 109 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160824
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Bpnt2 G A 4: 4,776,385 (GRCm39) T190I probably damaging Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Dgkd C T 1: 87,863,138 (GRCm39) R62C probably damaging Het
Ephx3 A G 17: 32,408,223 (GRCm39) L67P probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Igkv9-120 T C 6: 68,027,433 (GRCm39) S116P probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pla1a A G 16: 38,237,569 (GRCm39) L43P probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A probably damaging 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
R0684:Pigf UTSW 17 87,327,923 (GRCm39) missense probably benign 0.31
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
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'- GCATTGAAGGAGTCATAATTCCAC -3'
(R):5'- CTGACATCAAGAGACTTCTGTATACC -3'

Sequencing Primer
(F):5'- GGAGTCATAATTCCACAATGAATGC -3'
(R):5'- TCTGTATACCAATCTTTTGTGCG -3'
Posted On 2016-08-04