Incidental Mutation 'R6159:Pigs'
ID 489766
Institutional Source Beutler Lab
Gene Symbol Pigs
Ensembl Gene ENSMUSG00000041958
Gene Name phosphatidylinositol glycan anchor biosynthesis, class S
Synonyms LOC276846, LOC245087
MMRRC Submission 044306-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R6159 (G1)
Quality Score 87.0076
Status Validated
Chromosome 11
Chromosomal Location 78219272-78233602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78219326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 9 (T9M)
Ref Sequence ENSEMBL: ENSMUSP00000044871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017534] [ENSMUST00000048073] [ENSMUST00000102478]
AlphaFold Q6PD26
Predicted Effect probably benign
Transcript: ENSMUST00000017534
SMART Domains Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390

DomainStartEndE-ValueType
Pfam:Glycolytic 15 363 2.6e-185 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048073
AA Change: T9M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: T9M

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 96% (54/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A C 6: 29,908,457 (GRCm39) N609T possibly damaging Het
Ankzf1 G A 1: 75,170,888 (GRCm39) C98Y probably damaging Het
Atg101 T A 15: 101,188,519 (GRCm39) M208K possibly damaging Het
Baiap2l2 A G 15: 79,143,930 (GRCm39) I388T probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Chrnd T A 1: 87,118,812 (GRCm39) D56E probably benign Het
Col28a1 A T 6: 8,162,247 (GRCm39) probably null Het
Col4a1 G T 8: 11,270,007 (GRCm39) P899Q probably damaging Het
Cts3 C A 13: 61,714,655 (GRCm39) A217S probably damaging Het
Dab2 A G 15: 6,465,941 (GRCm39) N495S possibly damaging Het
Dnah2 T A 11: 69,349,368 (GRCm39) I2423F probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock6 T C 9: 21,733,041 (GRCm39) H1053R probably benign Het
Eif1ad14 G A 12: 87,886,521 (GRCm39) A36V probably damaging Het
Fam184a G A 10: 53,574,869 (GRCm39) L191F probably damaging Het
Fbxl9 T C 8: 106,049,925 (GRCm39) Y33C probably damaging Het
Fip1l1 C T 5: 74,752,608 (GRCm39) R472W probably damaging Het
Gbp2 T C 3: 142,338,018 (GRCm39) F378S probably damaging Het
Ggt1 A T 10: 75,420,799 (GRCm39) E388V probably damaging Het
Gm14496 A G 2: 181,638,050 (GRCm39) T375A probably benign Het
Gm43302 A G 5: 105,436,894 (GRCm39) S71P probably benign Het
Gnrhr G T 5: 86,330,216 (GRCm39) T268K probably damaging Het
Htt T C 5: 34,962,020 (GRCm39) V335A probably benign Het
Klhl20 A T 1: 160,933,037 (GRCm39) L257H probably damaging Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Muc5ac T A 7: 141,369,323 (GRCm39) C2433S possibly damaging Het
Nasp A G 4: 116,461,086 (GRCm39) probably null Het
Nipal2 A C 15: 34,600,172 (GRCm39) V215G probably damaging Het
Or10al5 A T 17: 38,063,038 (GRCm39) I98F probably damaging Het
Or9i1b C T 19: 13,897,104 (GRCm39) T240I probably damaging Het
Oxct2b G A 4: 123,011,244 (GRCm39) R388H probably damaging Het
Pbrm1 A G 14: 30,774,240 (GRCm39) I469V possibly damaging Het
Phyhip A G 14: 70,704,294 (GRCm39) H171R possibly damaging Het
Plek T C 11: 16,935,539 (GRCm39) D256G probably damaging Het
Prss50 T C 9: 110,693,371 (GRCm39) V369A probably benign Het
Psmc5 A G 11: 106,152,088 (GRCm39) K82E possibly damaging Het
Qrsl1 A T 10: 43,758,189 (GRCm39) F301L probably benign Het
Rasal1 T C 5: 120,797,673 (GRCm39) L135P probably damaging Het
Rbm47 A G 5: 66,184,159 (GRCm39) V148A probably damaging Het
Scyl1 T A 19: 5,814,785 (GRCm39) D381V probably benign Het
Selplg G T 5: 113,957,162 (GRCm39) D381E probably benign Het
Sh3rf2 C A 18: 42,289,200 (GRCm39) Q674K probably damaging Het
Sned1 A G 1: 93,210,659 (GRCm39) T987A probably benign Het
Sntb1 A G 15: 55,539,698 (GRCm39) probably null Het
Synj2 A T 17: 6,036,327 (GRCm39) I14F probably damaging Het
Taf2 A T 15: 54,926,440 (GRCm39) M170K possibly damaging Het
Tg A G 15: 66,607,096 (GRCm39) E211G possibly damaging Het
Thnsl1 G T 2: 21,217,016 (GRCm39) E257* probably null Het
Tlr4 A G 4: 66,758,070 (GRCm39) R288G possibly damaging Het
Trbc1 T C 6: 41,515,385 (GRCm39) probably benign Het
Trim37 G A 11: 87,107,374 (GRCm39) probably null Het
Txnrd3 T C 6: 89,640,176 (GRCm39) probably null Het
Tyk2 C A 9: 21,021,800 (GRCm39) Q875H probably damaging Het
Vmn2r55 A G 7: 12,385,698 (GRCm39) Y761H probably damaging Het
Zswim5 T C 4: 116,836,876 (GRCm39) L720P probably damaging 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
R5206:Pigs UTSW 11 78,224,549 (GRCm39) missense probably damaging 0.98
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
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'- ATTGAAAGTGTAGCCGAGCG -3'
(R):5'- GGTAAGTCTCCGTCGTCTTC -3'

Sequencing Primer
(F):5'- AAGTGTAGCCGAGCGCGTAC -3'
(R):5'- AACTAGGGTGCGATGCCC -3'
Posted On 2017-10-10