Incidental Mutation 'IGL01484:Pigf'
ID 88850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigf
Ensembl Gene ENSMUSG00000024145
Gene Name phosphatidylinositol glycan anchor biosynthesis, class F
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01484
Quality Score
Status
Chromosome 17
Chromosomal Location 87304684-87332834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87316308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 157 (I157V)
Ref Sequence ENSEMBL: ENSMUSP00000024957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024957]
AlphaFold O09101
Predicted Effect probably benign
Transcript: ENSMUST00000024957
AA Change: I157V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145
AA Change: I157V

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,579,006 (GRCm39) H90R possibly damaging Het
Arsj A G 3: 126,158,685 (GRCm39) D88G probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Dagla A C 19: 10,225,884 (GRCm39) L760R possibly damaging Het
Dnah1 T C 14: 31,021,897 (GRCm39) E1202G probably damaging Het
Hdac9 T C 12: 34,487,164 (GRCm39) H100R probably damaging Het
Hhip T C 8: 80,723,412 (GRCm39) H414R probably damaging Het
Hk2 G A 6: 82,713,711 (GRCm39) T457M probably damaging Het
Iapp A G 6: 142,249,165 (GRCm39) T73A possibly damaging Het
Ifit1 A G 19: 34,626,243 (GRCm39) N460D probably damaging Het
Itpa T C 2: 130,514,019 (GRCm39) F77L probably benign Het
Knop1 T C 7: 118,452,032 (GRCm39) D229G probably damaging Het
Lrrc32 T C 7: 98,143,442 (GRCm39) I5T probably damaging Het
Myo7a C T 7: 97,734,629 (GRCm39) V622M probably damaging Het
N4bp1 T C 8: 87,571,400 (GRCm39) E866G probably damaging Het
Or2t48 A T 11: 58,420,222 (GRCm39) W197R probably benign Het
Palmd G A 3: 116,746,794 (GRCm39) probably benign Het
Pcbp4 A G 9: 106,337,848 (GRCm39) probably null Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Prl7a2 T A 13: 27,843,191 (GRCm39) D204V probably damaging Het
Rfc3 A T 5: 151,566,401 (GRCm39) D349E probably benign Het
Sarm1 A T 11: 78,381,839 (GRCm39) C215S probably damaging Het
Serpine1 T C 5: 137,092,326 (GRCm39) probably benign Het
Strip1 A G 3: 107,520,575 (GRCm39) V825A probably damaging Het
Stx12 A G 4: 132,611,673 (GRCm39) S2P probably damaging Het
Sycp1 A C 3: 102,823,183 (GRCm39) S311R probably benign Het
Tfpi A T 2: 84,275,169 (GRCm39) C139* probably null Het
Tmc5 T A 7: 118,256,010 (GRCm39) I695N probably damaging Het
Tmem169 T C 1: 72,340,263 (GRCm39) V231A probably damaging Het
Ttbk2 T G 2: 120,570,314 (GRCm39) S1211R possibly damaging Het
Ubr3 C T 2: 69,851,888 (GRCm39) R1855* probably null Het
Urb1 A T 16: 90,574,448 (GRCm39) S878T probably benign Het
Vmn1r174 T A 7: 23,453,749 (GRCm39) Y138* probably null Het
Zfp282 A G 6: 47,867,054 (GRCm39) N214D possibly damaging Het
Other mutations in Pigf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pigf APN 17 87,327,876 (GRCm39) missense probably null 0.41
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
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
Posted On 2013-11-18