Incidental Mutation 'R6287:Pigf'
ID 508287
Institutional Source Beutler Lab
Gene Symbol Pigf
Ensembl Gene ENSMUSG00000024145
Gene Name phosphatidylinositol glycan anchor biosynthesis, class F
Synonyms
MMRRC Submission 044457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6287 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 87304684-87332834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87304967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 192 (A192V)
Ref Sequence ENSEMBL: ENSMUSP00000024957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024956] [ENSMUST00000024957] [ENSMUST00000139344]
AlphaFold O09101
Predicted Effect probably benign
Transcript: ENSMUST00000024956
SMART Domains Protein: ENSMUSP00000024956
Gene: ENSMUSG00000024143

DomainStartEndE-ValueType
RHO 12 185 5.31e-124 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000024957
AA Change: A192V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: A192V

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139344
SMART Domains Protein: ENSMUSP00000116780
Gene: ENSMUSG00000024143

DomainStartEndE-ValueType
RHO 12 153 1.91e-84 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 94% (34/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,037,736 (GRCm39) N268S possibly damaging Het
Ahnak T A 19: 8,992,367 (GRCm39) H4550Q probably benign Het
C330018D20Rik A C 18: 57,095,407 (GRCm39) probably null Het
Camta2 G C 11: 70,572,295 (GRCm39) Q310E probably damaging Het
Caskin1 A T 17: 24,715,683 (GRCm39) K149M probably damaging Het
Chml T C 1: 175,514,569 (GRCm39) K108E probably benign Het
Ddx60 T C 8: 62,403,612 (GRCm39) L345P probably damaging Het
Defb6 T A 8: 19,278,085 (GRCm39) C52* probably null Het
Flii A T 11: 60,612,423 (GRCm39) I288N probably damaging Het
Fmnl2 T C 2: 52,904,860 (GRCm39) Y55H probably damaging Het
Galk2 A T 2: 125,712,268 (GRCm39) probably benign Het
Ift140 T A 17: 25,269,408 (GRCm39) C688S probably benign Het
Lmln T C 16: 32,894,555 (GRCm39) probably null Het
Muc16 T C 9: 18,570,330 (GRCm39) T730A unknown Het
Nup88 T C 11: 70,856,581 (GRCm39) E184G probably benign Het
Omt2b T C 9: 78,235,543 (GRCm39) F27L possibly damaging Het
Or10g3 A T 14: 52,609,748 (GRCm39) V254E probably damaging Het
Or2a7 A G 6: 43,151,369 (GRCm39) I150V probably benign Het
Or2y13 A G 11: 49,415,072 (GRCm39) N174S probably damaging Het
Or4a15 G A 2: 89,193,363 (GRCm39) R137* probably null Het
Or6c69b T C 10: 129,627,254 (GRCm39) E68G probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pikfyve T C 1: 65,292,691 (GRCm39) probably null Het
Ppat A T 5: 77,066,061 (GRCm39) Y352* probably null Het
Rapgef6 T G 11: 54,517,164 (GRCm39) probably null Het
Rrp15 A T 1: 186,481,373 (GRCm39) S45T probably benign Het
Sap18 A G 14: 58,035,771 (GRCm39) E30G probably damaging Het
Snx6 G T 12: 54,793,813 (GRCm39) A284E possibly damaging Het
Tm4sf4 T A 3: 57,333,112 (GRCm39) I26N probably damaging Het
Traf5 A G 1: 191,731,833 (GRCm39) L336P probably damaging Het
Ttl G A 2: 128,931,041 (GRCm39) A335T probably damaging Het
Vmn2r87 C T 10: 130,314,291 (GRCm39) probably null Het
Zfp74 G A 7: 29,635,201 (GRCm39) T169I probably benign Het
Zfp937 A T 2: 150,080,261 (GRCm39) H97L possibly damaging Het
Zzef1 G T 11: 72,813,938 (GRCm39) E2842D 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
R5365:Pigf UTSW 17 87,331,136 (GRCm39) missense possibly damaging 0.62
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'- TAAATGGACTGCCCGGCTTG -3'
(R):5'- GTTGCCAGAAGCCTTGTTAC -3'

Sequencing Primer
(F):5'- TGGACCATGTAACTTCTGCACAG -3'
(R):5'- GCCAGAAGCCTTGTTACTGTTTAATG -3'
Posted On 2018-03-15