Incidental Mutation 'R5941:Pigk'
ID 460241
Institutional Source Beutler Lab
Gene Symbol Pigk
Ensembl Gene ENSMUSG00000039047
Gene Name phosphatidylinositol glycan anchor biosynthesis, class K
Synonyms 3000001O05Rik
MMRRC Submission 044133-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R5941 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152419718-152548705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152472150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 354 (I354T)
Ref Sequence ENSEMBL: ENSMUSP00000123753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000045029
AA Change: I401T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: I401T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 183 2.4e-25 PFAM
Pfam:Peptidase_C13 203 353 2.2e-17 PFAM
transmembrane domain 411 430 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051510
Predicted Effect probably benign
Transcript: ENSMUST00000159899
AA Change: I354T

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: I354T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 1.6e-47 PFAM
transmembrane domain 364 383 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160651
Predicted Effect possibly damaging
Transcript: ENSMUST00000161596
AA Change: I354T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: I354T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 5.5e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162642
AA Change: I354T

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: I354T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 1.5e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200224
SMART Domains Protein: ENSMUSP00000142966
Gene: ENSMUSG00000039047

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Meta Mutation Damage Score 0.0800 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 97% (95/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. 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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,190,321 (GRCm39) D70E probably damaging Het
Adamts14 C T 10: 61,057,674 (GRCm39) G561R probably damaging Het
Alpk3 A T 7: 80,728,401 (GRCm39) K510N probably damaging Het
Ap3b1 A G 13: 94,576,781 (GRCm39) N269D probably benign Het
Ap3b1 T C 13: 94,619,773 (GRCm39) S144P probably damaging Het
Apba2 C A 7: 64,395,464 (GRCm39) Q635K probably benign Het
Aspg C T 12: 112,079,519 (GRCm39) T99I probably benign Het
Atp7b A G 8: 22,487,512 (GRCm39) V1179A probably damaging Het
Bbs12 T C 3: 37,374,197 (GRCm39) V215A probably damaging Het
Bcl2l11 C A 2: 127,969,703 (GRCm39) probably benign Het
Bglap3 T G 3: 88,283,653 (GRCm39) probably benign Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cdh26 C T 2: 178,123,443 (GRCm39) Q662* probably null Het
Cftr T A 6: 18,313,645 (GRCm39) F1290I probably damaging Het
Clip3 G A 7: 29,991,731 (GRCm39) E36K probably damaging Het
Cog2 A G 8: 125,272,825 (GRCm39) I541V probably benign Het
Cpt1b A T 15: 89,309,417 (GRCm39) W39R probably damaging Het
Csmd1 A G 8: 15,982,471 (GRCm39) V2732A probably damaging Het
Dlec1 A G 9: 118,955,380 (GRCm39) D688G probably damaging Het
Dnah12 A G 14: 26,428,022 (GRCm39) E216G probably benign Het
Dnah7b C A 1: 46,226,450 (GRCm39) L1294I probably damaging Het
Duox1 T A 2: 122,174,637 (GRCm39) L1265Q probably damaging Het
Fam91a1 T A 15: 58,303,166 (GRCm39) D358E probably benign Het
Fat3 A C 9: 15,910,797 (GRCm39) I1735S probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabrr1 T A 4: 33,162,676 (GRCm39) M414K probably benign Het
Gm21915 A C 9: 40,581,995 (GRCm39) E29D possibly damaging Het
Gm9955 G A 18: 24,842,320 (GRCm39) probably benign Het
Gpat2 C A 2: 127,270,195 (GRCm39) D69E possibly damaging Het
Grin2b T G 6: 135,713,371 (GRCm39) I837L probably damaging Het
Gucy2g T C 19: 55,203,563 (GRCm39) D745G probably damaging Het
H2-Q1 A G 17: 35,540,332 (GRCm39) Y139C probably damaging Het
Ints2 G C 11: 86,141,798 (GRCm39) N216K probably benign Het
Jmy G A 13: 93,635,333 (GRCm39) P161L probably benign Het
Kctd11 G A 11: 69,770,799 (GRCm39) R80W possibly damaging Het
Kif7 A G 7: 79,360,880 (GRCm39) probably benign Het
Kifc1 C T 17: 34,102,059 (GRCm39) probably benign Het
Lcor G A 19: 41,574,839 (GRCm39) R1198Q probably damaging Het
Mir412 C A 12: 109,709,733 (GRCm39) noncoding transcript Het
Mknk1 T A 4: 115,733,834 (GRCm39) probably benign Het
Mmp16 A G 4: 18,054,354 (GRCm39) probably benign Het
Mmp7 A G 9: 7,697,646 (GRCm39) H227R probably damaging Het
Myh4 A C 11: 67,150,126 (GRCm39) D1861A probably damaging Het
Nup205 T C 6: 35,209,343 (GRCm39) L1550P probably damaging Het
Or10g1 C T 14: 52,647,525 (GRCm39) G268D probably benign Het
Or2a56 G T 6: 42,932,650 (GRCm39) A73S possibly damaging Het
Or4c113 T A 2: 88,884,963 (GRCm39) H269L probably benign Het
Or4c58 T A 2: 89,674,859 (GRCm39) I153F probably benign Het
Or51af1 A G 7: 103,141,927 (GRCm39) S53P possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pafah1b2 A T 9: 45,887,405 (GRCm39) C35* probably null Het
Pappa T A 4: 65,232,830 (GRCm39) F1323Y possibly damaging Het
Phtf2 A T 5: 20,979,071 (GRCm39) F519Y probably damaging Het
Plekha7 T C 7: 115,724,040 (GRCm39) D1265G possibly damaging Het
Prss12 A G 3: 123,299,150 (GRCm39) R641G probably benign Het
Prss28 A G 17: 25,528,717 (GRCm39) Y53C probably damaging Het
Rabgap1 G T 2: 37,451,908 (GRCm39) C936F possibly damaging Het
Rap1a T C 3: 105,639,385 (GRCm39) I91M possibly damaging Het
Rap1gap2 A T 11: 74,283,063 (GRCm39) M679K probably damaging Het
Rapgef5 T A 12: 117,692,473 (GRCm39) L352I probably damaging Het
Rhbdl3 G A 11: 80,222,715 (GRCm39) V255M probably benign Het
Rhot1 T C 11: 80,141,996 (GRCm39) probably benign Het
Rita1 A C 5: 120,747,626 (GRCm39) V224G probably benign Het
Ryr2 T A 13: 11,702,788 (GRCm39) Y2900F probably damaging Het
Scaf11 A C 15: 96,318,189 (GRCm39) H458Q probably damaging Het
Scamp4 T A 10: 80,448,255 (GRCm39) S159T probably benign Het
Setd5 T A 6: 113,105,451 (GRCm39) Y828N probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sipa1l2 A G 8: 126,200,275 (GRCm39) S684P probably damaging Het
Stard9 A T 2: 120,544,039 (GRCm39) I4446F probably damaging Het
Sult1c2 T C 17: 54,138,926 (GRCm39) D217G probably benign Het
Supt16 C A 14: 52,419,653 (GRCm39) K148N probably benign Het
Syne3 G A 12: 104,913,251 (GRCm39) S570L probably benign Het
Tcf3 G T 10: 80,248,878 (GRCm39) D534E probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trbv3 T C 6: 41,025,335 (GRCm39) I3T probably benign Het
Trbv4 T A 6: 41,036,563 (GRCm39) Y29* probably null Het
Ttl A G 2: 128,917,904 (GRCm39) N122S probably benign Het
Txndc11 T C 16: 10,892,935 (GRCm39) T932A probably benign Het
Ube2e2 G A 14: 18,586,910 (GRCm38) A150V probably damaging Het
Ube2ql1 T C 13: 69,887,459 (GRCm39) M1V probably null Het
Uqcrc1 A G 9: 108,776,554 (GRCm39) probably benign Het
Utrn T C 10: 12,362,227 (GRCm39) D2702G probably damaging Het
Vcan T A 13: 89,840,810 (GRCm39) D618V probably damaging Het
Vdac3-ps1 A G 13: 18,205,787 (GRCm39) noncoding transcript Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zap70 G A 1: 36,810,030 (GRCm39) V47M probably damaging Het
Zfp770 A G 2: 114,028,027 (GRCm39) M14T possibly damaging Het
Zup1 C T 10: 33,825,458 (GRCm39) G8D probably damaging Het
Other mutations in Pigk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pigk APN 3 152,453,269 (GRCm39) nonsense probably null
IGL00668:Pigk APN 3 152,448,173 (GRCm39) missense possibly damaging 0.50
IGL01335:Pigk APN 3 152,448,173 (GRCm39) missense probably benign 0.30
IGL01657:Pigk APN 3 152,428,157 (GRCm39) missense probably damaging 1.00
IGL01813:Pigk APN 3 152,448,156 (GRCm39) missense probably damaging 1.00
IGL02426:Pigk APN 3 152,448,120 (GRCm39) splice site probably null
IGL02871:Pigk APN 3 152,472,153 (GRCm39) missense probably damaging 1.00
IGL02963:Pigk APN 3 152,472,098 (GRCm39) nonsense probably null
R0135:Pigk UTSW 3 152,450,343 (GRCm39) splice site probably benign
R1750:Pigk UTSW 3 152,450,101 (GRCm39) missense probably damaging 1.00
R1766:Pigk UTSW 3 152,445,793 (GRCm39) missense probably damaging 1.00
R1990:Pigk UTSW 3 152,450,131 (GRCm39) missense probably damaging 1.00
R1991:Pigk UTSW 3 152,450,131 (GRCm39) missense probably damaging 1.00
R2010:Pigk UTSW 3 152,472,151 (GRCm39) missense probably damaging 1.00
R2864:Pigk UTSW 3 152,428,189 (GRCm39) missense probably damaging 1.00
R3883:Pigk UTSW 3 152,419,832 (GRCm39) missense probably benign 0.00
R4153:Pigk UTSW 3 152,445,766 (GRCm39) missense probably damaging 1.00
R4730:Pigk UTSW 3 152,448,203 (GRCm39) nonsense probably null
R4911:Pigk UTSW 3 152,445,841 (GRCm39) missense probably damaging 1.00
R4942:Pigk UTSW 3 152,450,154 (GRCm39) missense probably damaging 1.00
R5323:Pigk UTSW 3 152,443,837 (GRCm39) missense probably damaging 1.00
R5655:Pigk UTSW 3 152,445,858 (GRCm39) missense probably damaging 1.00
R5986:Pigk UTSW 3 152,446,486 (GRCm39) missense probably benign 0.00
R6391:Pigk UTSW 3 152,446,486 (GRCm39) missense probably benign
R7182:Pigk UTSW 3 152,428,188 (GRCm39) missense possibly damaging 0.95
R7349:Pigk UTSW 3 152,453,238 (GRCm39) missense probably benign 0.04
R7947:Pigk UTSW 3 152,453,404 (GRCm39) missense probably benign 0.00
R7971:Pigk UTSW 3 152,450,176 (GRCm39) missense probably benign 0.26
R8915:Pigk UTSW 3 152,472,098 (GRCm39) missense probably benign 0.00
R8932:Pigk UTSW 3 152,445,871 (GRCm39) missense possibly damaging 0.64
Z1177:Pigk UTSW 3 152,472,109 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTAGGTCCTGGCCATTGC -3'
(R):5'- ACTGAGCTTCATATGGGAGTG -3'

Sequencing Primer
(F):5'- CGCTGGGTAGTTTTTCCAAAATTGTC -3'
(R):5'- ACTGAGCTTCATATGGGAGTGTTCAC -3'
Posted On 2017-02-28