Incidental Mutation 'IGL02404:Pigs'
ID292000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigs
Ensembl Gene ENSMUSG00000041958
Gene Namephosphatidylinositol glycan anchor biosynthesis, class S
SynonymsLOC245087, LOC276846
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.900) question?
Stock #IGL02404
Quality Score
Status
Chromosome11
Chromosomal Location78328415-78342782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78340031 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 368 (I368N)
Ref Sequence ENSEMBL: ENSMUSP00000044871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002127] [ENSMUST00000048073] [ENSMUST00000108295]
Predicted Effect probably benign
Transcript: ENSMUST00000002127
SMART Domains Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 29 54 N/A INTRINSIC
Pfam:GMP_PDE_delta 78 237 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048073
AA Change: I368N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: I368N

DomainStartEndE-ValueType
Pfam:PIG-S 22 547 3.3e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108295
SMART Domains Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 29 54 N/A INTRINSIC
Pfam:GMP_PDE_delta 80 212 1.3e-60 PFAM
Pfam:GMP_PDE_delta 218 258 1.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154700
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 that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,187,284 I662T possibly damaging Het
Adcy6 T C 15: 98,596,938 I745V probably benign Het
Alppl2 A G 1: 87,088,863 V163A possibly damaging Het
Atad2b T A 12: 4,941,972 S190R probably benign Het
Cep68 A G 11: 20,240,004 V336A possibly damaging Het
Clcn4 A C 7: 7,287,858 N587K probably benign Het
Clic1 A G 17: 35,052,876 E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 S232G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Daw1 A G 1: 83,197,231 T151A probably benign Het
Dysf A G 6: 84,116,061 E1052G probably damaging Het
Gpr12 G A 5: 146,583,923 A63V probably damaging Het
Inmt C T 6: 55,171,110 R178Q possibly damaging Het
Metap1 A T 3: 138,489,308 C22S probably damaging Het
Mst1r A T 9: 107,913,067 probably benign Het
Olfr699 A C 7: 106,790,359 I214S probably damaging Het
Phkb T C 8: 85,878,115 S58P possibly damaging Het
Plekhm1 C T 11: 103,394,998 D204N probably benign Het
Pot1a A T 6: 25,764,432 probably benign Het
Rps4l A G 6: 148,354,779 probably benign Het
Scn8a T A 15: 101,039,730 M1660K probably damaging Het
Sec31b A C 19: 44,534,788 V23G probably damaging Het
Sorcs3 T C 19: 48,704,370 probably benign Het
Thap12 A G 7: 98,710,133 Y73C probably damaging Het
Thsd7b G A 1: 129,613,151 C254Y probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn T A 2: 76,939,978 N2623I possibly damaging Het
Ulk1 A T 5: 110,796,234 probably null Het
Vps13d T C 4: 145,148,735 Y1734C probably damaging Het
Vsig10l A G 7: 43,463,747 D143G possibly damaging Het
Wac A G 18: 7,917,570 T347A probably damaging Het
Wdr62 G T 7: 30,267,873 R319S probably damaging Het
Zfp668 T C 7: 127,866,360 K551E probably damaging Het
Other mutations in Pigs
AlleleSourceChrCoordTypePredicted EffectPPH Score
feral UTSW 11 78336739 missense possibly damaging 0.94
R0094:Pigs UTSW 11 78340038 missense probably damaging 0.98
R0490:Pigs UTSW 11 78335625 missense probably damaging 1.00
R1027:Pigs UTSW 11 78336825 missense probably damaging 1.00
R1073:Pigs UTSW 11 78335605 missense probably benign 0.09
R1157:Pigs UTSW 11 78328994 missense possibly damaging 0.87
R1754:Pigs UTSW 11 78337847 missense probably damaging 0.99
R1881:Pigs UTSW 11 78341756 missense probably benign 0.00
R2171:Pigs UTSW 11 78328812 missense probably damaging 1.00
R2386:Pigs UTSW 11 78332986 missense probably damaging 1.00
R4928:Pigs UTSW 11 78329002 missense probably damaging 0.99
R5206:Pigs UTSW 11 78333723 missense probably damaging 0.98
R5480:Pigs UTSW 11 78329075 missense possibly damaging 0.58
R5665:Pigs UTSW 11 78328769 synonymous probably null
R6039:Pigs UTSW 11 78341825 missense probably damaging 1.00
R6039:Pigs UTSW 11 78341825 missense probably damaging 1.00
R6159:Pigs UTSW 11 78328500 missense probably benign 0.01
R6572:Pigs UTSW 11 78339364 missense probably damaging 0.98
R6618:Pigs UTSW 11 78341230 missense probably damaging 1.00
R7052:Pigs UTSW 11 78341385 missense probably damaging 1.00
R7065:Pigs UTSW 11 78336739 missense possibly damaging 0.94
R7352:Pigs UTSW 11 78328812 missense probably damaging 1.00
Posted On2015-04-16