Incidental Mutation 'IGL00323:Pigk'
ID13005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigk
Ensembl Gene ENSMUSG00000039047
Gene Namephosphatidylinositol glycan anchor biosynthesis, class K
Synonyms3000001O05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.851) question?
Stock #IGL00323
Quality Score
Status
Chromosome3
Chromosomal Location152714100-152980408 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 152747632 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 282 (S282*)
Ref Sequence ENSEMBL: ENSMUSP00000123899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
Predicted Effect probably null
Transcript: ENSMUST00000045029
AA Change: S329*
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: S329*

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 null
Transcript: ENSMUST00000159899
AA Change: S282*
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: S282*

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 null
Transcript: ENSMUST00000161596
AA Change: S282*
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: S282*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 5.5e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162642
AA Change: S282*
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: S282*

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,790 Y106H probably damaging Het
Atrnl1 C A 19: 57,691,817 N716K probably benign Het
Cdk13 A T 13: 17,721,098 N1075K possibly damaging Het
Daam1 G A 12: 71,958,743 probably benign Het
Exd2 T C 12: 80,476,166 V133A probably damaging Het
Fam58b A G 11: 78,750,956 V236A probably benign Het
Glrb T C 3: 80,861,955 D155G probably damaging Het
Gm13941 T A 2: 111,104,853 M11L unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Inpp5d G T 1: 87,683,815 V329F probably benign Het
Lilr4b A T 10: 51,481,251 D61V probably benign Het
Malt1 T A 18: 65,448,963 C299* probably null Het
Olfr1306 A T 2: 111,912,036 M298K possibly damaging Het
Olfr1408 G A 1: 173,130,411 Q269* probably null Het
Pik3r1 T A 13: 101,690,536 M1L probably benign Het
Pnpla1 A G 17: 28,877,442 Y165C probably damaging Het
Rfx7 A G 9: 72,617,420 N631D probably damaging Het
Rp1 T A 1: 4,346,746 D1381V probably damaging Het
Rrp8 T C 7: 105,733,016 probably benign Het
Scn4a A T 11: 106,319,919 D1757E probably benign Het
Sec62 T C 3: 30,810,442 probably benign Het
Smarca5 G A 8: 80,714,041 T598M probably benign Het
Sptbn5 T C 2: 120,054,467 probably benign Het
Srcap T C 7: 127,542,713 probably benign Het
Stab1 T A 14: 31,139,306 E71D probably benign Het
Trhde A T 10: 114,486,747 S716R possibly damaging Het
Ttn T C 2: 76,896,515 probably benign Het
Wscd2 A C 5: 113,551,175 T81P possibly damaging Het
Zfp335 G A 2: 164,892,382 T1295I probably damaging Het
Other mutations in Pigk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02871:Pigk APN 3 152766516 missense probably damaging 1.00
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
Z1177:Pigk UTSW 3 152766472 missense probably benign
Posted On2012-12-06