Incidental Mutation 'IGL02608:Pigg'
ID 300339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigg
Ensembl Gene ENSMUSG00000029263
Gene Name phosphatidylinositol glycan anchor biosynthesis, class G
Synonyms Gpi7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02608
Quality Score
Status
Chromosome 5
Chromosomal Location 108460679-108497225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108460869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 27 (F27L)
Ref Sequence ENSEMBL: ENSMUSP00000113818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031189] [ENSMUST00000118910] [ENSMUST00000119014]
AlphaFold D3Z3Y1
Predicted Effect possibly damaging
Transcript: ENSMUST00000031189
AA Change: F27L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: F27L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 68 314 6.3e-15 PFAM
transmembrane domain 428 450 N/A INTRINSIC
transmembrane domain 463 482 N/A INTRINSIC
transmembrane domain 497 519 N/A INTRINSIC
transmembrane domain 540 562 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
transmembrane domain 688 705 N/A INTRINSIC
transmembrane domain 712 734 N/A INTRINSIC
transmembrane domain 749 766 N/A INTRINSIC
transmembrane domain 785 802 N/A INTRINSIC
transmembrane domain 876 898 N/A INTRINSIC
transmembrane domain 911 933 N/A INTRINSIC
transmembrane domain 948 967 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118910
AA Change: F27L

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: F27L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SCOP:d1eqja2 127 202 8e-8 SMART
transmembrane domain 303 325 N/A INTRINSIC
transmembrane domain 338 357 N/A INTRINSIC
transmembrane domain 372 394 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
transmembrane domain 563 580 N/A INTRINSIC
transmembrane domain 587 609 N/A INTRINSIC
transmembrane domain 624 641 N/A INTRINSIC
transmembrane domain 660 677 N/A INTRINSIC
transmembrane domain 751 773 N/A INTRINSIC
transmembrane domain 786 808 N/A INTRINSIC
transmembrane domain 823 842 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119014
AA Change: F27L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: F27L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 164 286 2.2e-9 PFAM
transmembrane domain 436 458 N/A INTRINSIC
transmembrane domain 471 490 N/A INTRINSIC
transmembrane domain 505 527 N/A INTRINSIC
transmembrane domain 548 570 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
transmembrane domain 696 713 N/A INTRINSIC
transmembrane domain 720 742 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
transmembrane domain 793 810 N/A INTRINSIC
transmembrane domain 884 906 N/A INTRINSIC
transmembrane domain 919 941 N/A INTRINSIC
transmembrane domain 956 975 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199082
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 an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Pigg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Pigg APN 5 108,489,944 (GRCm39) missense probably damaging 1.00
IGL01308:Pigg APN 5 108,484,343 (GRCm39) missense probably damaging 1.00
IGL01485:Pigg APN 5 108,484,067 (GRCm39) missense possibly damaging 0.90
IGL02043:Pigg APN 5 108,492,190 (GRCm39) missense probably damaging 1.00
IGL02104:Pigg APN 5 108,489,963 (GRCm39) missense probably damaging 1.00
IGL02238:Pigg APN 5 108,466,794 (GRCm39) missense possibly damaging 0.64
IGL02311:Pigg APN 5 108,484,246 (GRCm39) missense probably benign
IGL03338:Pigg APN 5 108,467,816 (GRCm39) missense probably damaging 1.00
P0033:Pigg UTSW 5 108,489,944 (GRCm39) missense probably damaging 1.00
R0082:Pigg UTSW 5 108,460,751 (GRCm39) start gained probably benign
R0449:Pigg UTSW 5 108,484,277 (GRCm39) missense probably benign 0.00
R0616:Pigg UTSW 5 108,461,951 (GRCm39) missense probably damaging 1.00
R1246:Pigg UTSW 5 108,489,686 (GRCm39) missense probably damaging 0.99
R1368:Pigg UTSW 5 108,465,154 (GRCm39) missense probably damaging 1.00
R1777:Pigg UTSW 5 108,465,257 (GRCm39) missense probably damaging 1.00
R1898:Pigg UTSW 5 108,484,408 (GRCm39) missense probably benign
R2022:Pigg UTSW 5 108,460,788 (GRCm39) start gained probably benign
R2037:Pigg UTSW 5 108,486,518 (GRCm39) missense probably damaging 1.00
R2157:Pigg UTSW 5 108,466,755 (GRCm39) missense probably damaging 1.00
R2181:Pigg UTSW 5 108,484,366 (GRCm39) missense probably damaging 0.96
R2291:Pigg UTSW 5 108,480,783 (GRCm39) missense probably damaging 0.97
R3157:Pigg UTSW 5 108,462,014 (GRCm39) missense probably damaging 1.00
R4117:Pigg UTSW 5 108,495,908 (GRCm39) missense probably benign 0.15
R4572:Pigg UTSW 5 108,480,751 (GRCm39) missense probably benign 0.27
R4589:Pigg UTSW 5 108,480,556 (GRCm39) missense probably benign
R5019:Pigg UTSW 5 108,480,015 (GRCm39) missense probably damaging 1.00
R5094:Pigg UTSW 5 108,484,123 (GRCm39) missense possibly damaging 0.90
R5329:Pigg UTSW 5 108,462,026 (GRCm39) missense probably damaging 0.99
R5960:Pigg UTSW 5 108,484,160 (GRCm39) missense probably benign 0.01
R5976:Pigg UTSW 5 108,480,057 (GRCm39) missense probably null 1.00
R6089:Pigg UTSW 5 108,489,788 (GRCm39) missense probably benign
R6797:Pigg UTSW 5 108,480,694 (GRCm39) missense probably damaging 0.99
R6960:Pigg UTSW 5 108,474,707 (GRCm39) missense probably damaging 0.98
R7090:Pigg UTSW 5 108,484,378 (GRCm39) missense possibly damaging 0.92
R7659:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7660:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7661:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7732:Pigg UTSW 5 108,466,841 (GRCm39) missense probably benign 0.00
R7749:Pigg UTSW 5 108,484,162 (GRCm39) missense probably benign
R7765:Pigg UTSW 5 108,461,920 (GRCm39) missense probably benign 0.00
R8021:Pigg UTSW 5 108,467,805 (GRCm39) missense probably damaging 1.00
R8268:Pigg UTSW 5 108,486,509 (GRCm39) missense probably damaging 0.99
R8320:Pigg UTSW 5 108,495,717 (GRCm39) missense probably benign
R8545:Pigg UTSW 5 108,489,726 (GRCm39) missense probably damaging 1.00
R8943:Pigg UTSW 5 108,484,066 (GRCm39) missense probably damaging 0.99
R9502:Pigg UTSW 5 108,495,782 (GRCm39) missense
R9720:Pigg UTSW 5 108,467,800 (GRCm39) nonsense probably null
R9722:Pigg UTSW 5 108,495,767 (GRCm39) missense possibly damaging 0.70
Posted On 2015-04-16