Incidental Mutation 'R5206:Pigs'
ID 402036
Institutional Source Beutler Lab
Gene Symbol Pigs
Ensembl Gene ENSMUSG00000041958
Gene Name phosphatidylinositol glycan anchor biosynthesis, class S
Synonyms LOC276846, LOC245087
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78219272-78233602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78224549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 145 (Y145N)
Ref Sequence ENSEMBL: ENSMUSP00000044871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048073]
AlphaFold Q6PD26
Predicted Effect probably damaging
Transcript: ENSMUST00000048073
AA Change: Y145N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: Y145N

DomainStartEndE-ValueType
Pfam:PIG-S 22 547 3.3e-144 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Pigs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Pigs APN 11 78,230,857 (GRCm39) missense probably benign
feral UTSW 11 78,227,565 (GRCm39) missense possibly damaging 0.94
R0094:Pigs UTSW 11 78,230,864 (GRCm39) missense probably damaging 0.98
R0490:Pigs UTSW 11 78,226,451 (GRCm39) missense probably damaging 1.00
R1027:Pigs UTSW 11 78,227,651 (GRCm39) missense probably damaging 1.00
R1073:Pigs UTSW 11 78,226,431 (GRCm39) missense probably benign 0.09
R1157:Pigs UTSW 11 78,219,820 (GRCm39) missense possibly damaging 0.87
R1754:Pigs UTSW 11 78,228,673 (GRCm39) missense probably damaging 0.99
R1881:Pigs UTSW 11 78,232,582 (GRCm39) missense probably benign 0.00
R2171:Pigs UTSW 11 78,219,638 (GRCm39) missense probably damaging 1.00
R2386:Pigs UTSW 11 78,223,812 (GRCm39) missense probably damaging 1.00
R4928:Pigs UTSW 11 78,219,828 (GRCm39) missense probably damaging 0.99
R5480:Pigs UTSW 11 78,219,901 (GRCm39) missense possibly damaging 0.58
R5665:Pigs UTSW 11 78,219,595 (GRCm39) splice site probably null
R6039:Pigs UTSW 11 78,232,651 (GRCm39) missense probably damaging 1.00
R6039:Pigs UTSW 11 78,232,651 (GRCm39) missense probably damaging 1.00
R6159:Pigs UTSW 11 78,219,326 (GRCm39) missense probably benign 0.01
R6572:Pigs UTSW 11 78,230,190 (GRCm39) missense probably damaging 0.98
R6618:Pigs UTSW 11 78,232,056 (GRCm39) missense probably damaging 1.00
R7052:Pigs UTSW 11 78,232,211 (GRCm39) missense probably damaging 1.00
R7065:Pigs UTSW 11 78,227,565 (GRCm39) missense possibly damaging 0.94
R7352:Pigs UTSW 11 78,219,638 (GRCm39) missense probably damaging 1.00
R7851:Pigs UTSW 11 78,227,613 (GRCm39) missense probably damaging 1.00
R9408:Pigs UTSW 11 78,230,213 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAAAGGGAGATGCCATGG -3'
(R):5'- ACCAAGAGACGGCATGAAGC -3'

Sequencing Primer
(F):5'- CCATGGGCTTCTGCTGAG -3'
(R):5'- TACAGTCTCTGAAAAAGGCCCTGG -3'
Posted On 2016-07-22