Incidental Mutation 'IGL02426:Pigk'
ID292926
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: 0.855) question?
Stock #IGL02426
Quality Score
Status
Chromosome3
Chromosomal Location152714100-152980408 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 152742483 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000045029] [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000159899] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
Predicted Effect probably null
Transcript: ENSMUST00000045029
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047

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 null
Transcript: ENSMUST00000045029
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047

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 null
Transcript: ENSMUST00000045029
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047

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 probably null
Transcript: ENSMUST00000159899
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047

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: ENSMUST00000159899
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047

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: ENSMUST00000159899
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047

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
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047

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

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,338,925 T1294M probably damaging Het
Bad A G 19: 6,951,417 S128G probably damaging Het
Casp9 T G 4: 141,812,204 probably null Het
Ccdc39 T C 3: 33,825,398 K507R possibly damaging Het
Cep76 A G 18: 67,634,917 S182P probably benign Het
Cmtr2 A G 8: 110,221,690 M211V possibly damaging Het
Cobl T A 11: 12,254,351 K777* probably null Het
Cul9 T G 17: 46,523,258 T1253P possibly damaging Het
Dmd T A X: 84,848,736 L3002H probably damaging Het
Dnah9 C T 11: 66,125,153 V421I probably benign Het
Eif4a2 A G 16: 23,110,649 I234V probably benign Het
Epha4 T C 1: 77,444,877 M323V probably benign Het
Fam47c A G X: 78,738,337 D175G probably benign Het
Gm13101 T C 4: 143,966,659 D83G possibly damaging Het
Gm14178 T C 11: 99,747,515 Het
Gpr1 T C 1: 63,183,668 Y136C probably damaging Het
Hes3 T C 4: 152,286,940 N184S probably benign Het
Kdm6a A G X: 18,246,310 E45G probably damaging Het
Kdr T C 5: 75,974,466 K33E probably benign Het
Olfr1097 A G 2: 86,890,620 L185S probably damaging Het
Olfr1281 A T 2: 111,328,575 D52V probably damaging Het
Olfr1295 A T 2: 111,564,538 I302K probably benign Het
Olfr437 A C 6: 43,167,088 D10A probably benign Het
Olfr503 A G 7: 108,544,980 T150A probably benign Het
Pi4ka A T 16: 17,378,432 probably benign Het
Pikfyve A G 1: 65,251,612 T1197A possibly damaging Het
Plppr4 T C 3: 117,322,295 I638V probably benign Het
Rtl9 T C X: 143,103,102 V1170A probably damaging Het
Ryr3 A G 2: 112,900,905 S687P possibly damaging Het
Skint5 T C 4: 113,940,784 T201A probably benign Het
Socs5 G T 17: 87,134,892 R420L probably damaging Het
Sos1 C T 17: 80,434,943 S385N possibly damaging Het
Tomm34 A T 2: 164,064,955 V106D probably damaging Het
Tubal3 T C 13: 3,932,750 S177P probably damaging Het
Wbp2nl G A 15: 82,306,173 A101T probably 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
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
Posted On2015-04-16