Incidental Mutation 'IGL02963:Pigk'
ID 365444
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 # IGL02963
Quality Score
Status
Chromosome 3
Chromosomal Location 152419718-152548705 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 152472098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 337 (E337*)
Ref Sequence ENSEMBL: ENSMUSP00000123899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect probably null
Transcript: ENSMUST00000045029
AA Change: E384*
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: E384*

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: E337*
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: E337*

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 probably null
Transcript: ENSMUST00000161596
AA Change: E337*
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: E337*

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: E337*
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: E337*

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown 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
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 2015-12-18