Incidental Mutation 'R1157:Pigs'
ID101817
Institutional Source Beutler Lab
Gene Symbol Pigs
Ensembl Gene ENSMUSG00000041958
Gene Namephosphatidylinositol glycan anchor biosynthesis, class S
SynonymsLOC245087, LOC276846
MMRRC Submission 039230-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.906) question?
Stock #R1157 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location78328415-78342782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78328994 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 65 (V65A)
Ref Sequence ENSEMBL: ENSMUSP00000044871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017534] [ENSMUST00000048073] [ENSMUST00000102478]
Predicted Effect probably benign
Transcript: ENSMUST00000017534
SMART Domains Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390

DomainStartEndE-ValueType
Pfam:Glycolytic 15 363 2.6e-185 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048073
AA Change: V65A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: V65A

DomainStartEndE-ValueType
Pfam:PIG-S 22 547 3.3e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102478
SMART Domains Protein: ENSMUSP00000099536
Gene: ENSMUSG00000017390

DomainStartEndE-ValueType
Pfam:Glycolytic 15 363 5.5e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156039
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C A 3: 95,683,661 S332I possibly damaging Het
Alpl A G 4: 137,754,020 V107A probably damaging Het
Baz1a A T 12: 54,929,564 F442L probably damaging Het
Cachd1 T A 4: 100,974,840 M733K possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cenpf A T 1: 189,658,453 C1061S probably benign Het
Crispld1 G A 1: 17,745,363 V90M possibly damaging Het
Ergic1 T A 17: 26,614,395 L41Q probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gas2l2 G A 11: 83,423,328 P386L probably benign Het
Gm21726 T C 13: 90,583,605 noncoding transcript Het
Gm7257 G A 9: 36,432,847 C42Y probably benign Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,260,635 probably null Het
Iqsec1 A G 6: 90,669,384 V771A possibly damaging Het
Klhl29 T C 12: 5,090,650 N664S possibly damaging Het
Krit1 T C 5: 3,832,176 Y659H probably damaging Het
Lap3 T A 5: 45,507,148 D373E probably damaging Het
Lrrc7 A G 3: 158,160,255 I1283T probably damaging Het
Lrrk1 T C 7: 66,262,283 Y1843C probably benign Het
Mapre1 T A 2: 153,758,017 D120E probably benign Het
Mgp A T 6: 136,873,206 M44K possibly damaging Het
Mrps25 A T 6: 92,183,966 M3K probably damaging Het
Myo3a G T 2: 22,542,414 probably null Het
Nedd9 C T 13: 41,314,503 probably null Het
Olfr371 G T 8: 85,231,260 C255F probably damaging Het
Olfr677 A G 7: 105,056,884 I213V probably benign Het
Olfr765 T G 10: 129,046,158 T302P probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pip5k1a G A 3: 95,078,112 T60I probably benign Het
Rp9 A T 9: 22,458,740 Y44N probably damaging Het
Tcea1 T A 1: 4,889,447 probably null Het
Trim33 C T 3: 103,353,830 T1098I probably damaging Het
Vmn2r114 T A 17: 23,310,340 I263F possibly damaging Het
Wdr12 A T 1: 60,078,230 S402R probably damaging Het
Zfp619 A G 7: 39,536,858 S771G probably damaging Het
Other mutations in Pigs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Pigs APN 11 78340031 missense probably benign
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
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
R7851:Pigs UTSW 11 78336787 missense probably damaging 1.00
R7934:Pigs UTSW 11 78336787 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15