Incidental Mutation 'IGL00668:Pigk'
ID 13687
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
Essential gene? Probably essential (E-score: 0.859) question?
Stock # IGL00668
Quality Score
Status
Chromosome 3
Chromosomal Location 152419718-152548705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152448173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 179 (T179A)
Ref Sequence ENSEMBL: ENSMUSP00000123899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect probably benign
Transcript: ENSMUST00000045029
AA Change: T226A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: T226A

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 noncoding transcript
Transcript: ENSMUST00000159045
Predicted Effect possibly damaging
Transcript: ENSMUST00000159899
AA Change: T179A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: T179A

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 probably benign
Transcript: ENSMUST00000161596
AA Change: T179A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: T179A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 5.5e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162642
AA Change: T179A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: T179A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 1.5e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162835
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Csmd3 A T 15: 47,777,341 (GRCm39) D1188E probably damaging Het
Dmxl1 T C 18: 50,072,620 (GRCm39) L2726P possibly damaging Het
Dync2i1 T C 12: 116,221,048 (GRCm39) H21R probably benign Het
Il23r T C 6: 67,400,612 (GRCm39) T573A probably damaging Het
Lima1 A T 15: 99,700,038 (GRCm39) V147E possibly damaging Het
Med12 T C X: 100,324,792 (GRCm39) S666P probably benign Het
Mpo A G 11: 87,688,160 (GRCm39) N273S probably benign Het
Phf20l1 T A 15: 66,504,698 (GRCm39) Y780N probably damaging Het
Sec23b A G 2: 144,401,138 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,985 (GRCm39) E894G probably damaging Het
Slc38a11 T A 2: 65,184,126 (GRCm39) D175V probably damaging Het
Sptan1 G A 2: 29,883,968 (GRCm39) probably null Het
Tsbp1 A G 17: 34,639,394 (GRCm39) probably benign Het
Wmp T A X: 106,990,802 (GRCm39) Y37F possibly damaging Het
Other mutations in Pigk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pigk APN 3 152,453,269 (GRCm39) nonsense probably null
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
R5941:Pigk UTSW 3 152,472,150 (GRCm39) missense possibly damaging 0.94
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
Posted On 2012-12-06