Incidental Mutation 'IGL02871:Pigk'
ID 362582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigk
Ensembl Gene ENSMUSG00000039047
Gene Name phosphatidylinositol glycan anchor biosynthesis, class K
Synonyms 3000001O05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.883) question?
Stock # IGL02871
Quality Score
Status
Chromosome 3
Chromosomal Location 152714100-152980408 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152766516 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 355 (I355K)
Ref Sequence ENSEMBL: ENSMUSP00000123899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect probably damaging
Transcript: ENSMUST00000045029
AA Change: I402K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: I402K

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 damaging
Transcript: ENSMUST00000159899
AA Change: I355K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: I355K

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: I355K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: I355K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 5.5e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162642
AA Change: I355K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: I355K

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
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 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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,154,838 H179Q probably benign Het
Bin3 T A 14: 70,128,905 C72* probably null Het
Brca2 C T 5: 150,542,552 T1927I probably benign Het
Cap2 A G 13: 46,525,492 D26G probably benign Het
Casz1 T G 4: 148,944,319 S1074A possibly damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Exosc9 A G 3: 36,565,281 N408S probably benign Het
Ezr G A 17: 6,742,390 Q352* probably null Het
Fbxl4 T A 4: 22,386,213 D273E probably benign Het
Gm3269 A T 14: 4,841,042 N193I probably damaging Het
Haus8 A T 8: 71,256,494 M90K probably benign Het
Igkv5-39 A T 6: 69,900,506 S89T probably benign Het
Nlrp4b A C 7: 10,715,265 D465A probably benign Het
Nsf A G 11: 103,862,056 probably benign Het
Nt5c1b G A 12: 10,381,325 M409I probably damaging Het
Olfr1195 T A 2: 88,683,084 Y216F probably damaging Het
Olfr1248 T C 2: 89,618,160 I11V probably benign Het
Olfr199 T A 16: 59,216,374 K80* probably null Het
Pga5 T C 19: 10,671,780 probably benign Het
Prom1 T C 5: 44,029,676 Y404C probably damaging Het
Ptprs T C 17: 56,447,443 E199G probably damaging Het
Sec24c T C 14: 20,692,882 S935P probably benign Het
Slc22a13 T C 9: 119,196,011 T200A probably benign Het
Svep1 T A 4: 58,100,871 I1264L probably benign Het
Tcf7l2 T A 19: 55,918,997 C349S probably damaging Het
Thbs2 T C 17: 14,685,786 H284R probably benign Het
Vmn2r19 C T 6: 123,336,083 S704L probably damaging Het
Vmn2r50 A G 7: 10,047,787 Y344H possibly damaging Het
Other mutations in Pigk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pigk APN 3 152747632 nonsense probably null
IGL00668:Pigk APN 3 152742536 missense possibly damaging 0.50
IGL01335:Pigk APN 3 152742536 missense probably benign 0.30
IGL01657:Pigk APN 3 152722520 missense probably damaging 1.00
IGL01813:Pigk APN 3 152742519 missense probably damaging 1.00
IGL02426:Pigk APN 3 152742483 splice site probably null
IGL02963:Pigk APN 3 152766461 nonsense probably null
R0135:Pigk UTSW 3 152744706 splice site probably benign
R1750:Pigk UTSW 3 152744464 missense probably damaging 1.00
R1766:Pigk UTSW 3 152740156 missense probably damaging 1.00
R1990:Pigk UTSW 3 152744494 missense probably damaging 1.00
R1991:Pigk UTSW 3 152744494 missense probably damaging 1.00
R2010:Pigk UTSW 3 152766514 missense probably damaging 1.00
R2864:Pigk UTSW 3 152722552 missense probably damaging 1.00
R3883:Pigk UTSW 3 152714195 missense probably benign 0.00
R4153:Pigk UTSW 3 152740129 missense probably damaging 1.00
R4730:Pigk UTSW 3 152742566 nonsense probably null
R4911:Pigk UTSW 3 152740204 missense probably damaging 1.00
R4942:Pigk UTSW 3 152744517 missense probably damaging 1.00
R5323:Pigk UTSW 3 152738200 missense probably damaging 1.00
R5655:Pigk UTSW 3 152740221 missense probably damaging 1.00
R5941:Pigk UTSW 3 152766513 missense possibly damaging 0.94
R5986:Pigk UTSW 3 152740849 missense probably benign 0.00
R6391:Pigk UTSW 3 152740849 missense probably benign
R7182:Pigk UTSW 3 152722551 missense possibly damaging 0.95
R7349:Pigk UTSW 3 152747601 missense probably benign 0.04
R7947:Pigk UTSW 3 152747767 missense probably benign 0.00
R7971:Pigk UTSW 3 152744539 missense probably benign 0.26
R8915:Pigk UTSW 3 152766461 missense probably benign 0.00
R8932:Pigk UTSW 3 152740234 missense possibly damaging 0.64
Z1177:Pigk UTSW 3 152766472 missense probably benign
Posted On 2015-12-18