Incidental Mutation 'IGL01062:Pigw'
ID52192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigw
Ensembl Gene ENSMUSG00000045140
Gene Namephosphatidylinositol glycan anchor biosynthesis, class W
Synonyms2610044A17Rik, Gwt1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01062
Quality Score
Status
Chromosome11
Chromosomal Location84876315-84880285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84877943 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 187 (R187G)
Ref Sequence ENSEMBL: ENSMUSP00000103715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020837] [ENSMUST00000067058] [ENSMUST00000093969] [ENSMUST00000108080]
Predicted Effect probably benign
Transcript: ENSMUST00000020837
SMART Domains Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527

DomainStartEndE-ValueType
MYSc 29 205 2.18e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067058
AA Change: R187G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: R187G

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 62 95 N/A INTRINSIC
transmembrane domain 134 152 N/A INTRINSIC
transmembrane domain 162 181 N/A INTRINSIC
transmembrane domain 202 219 N/A INTRINSIC
transmembrane domain 232 254 N/A INTRINSIC
transmembrane domain 261 280 N/A INTRINSIC
Pfam:GWT1 300 462 1.3e-37 PFAM
transmembrane domain 470 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093969
SMART Domains Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527

DomainStartEndE-ValueType
MYSc 29 759 4.07e-219 SMART
IQ 760 782 1.74e1 SMART
IQ 783 804 1.97e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108080
AA Change: R187G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: R187G

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 62 95 N/A INTRINSIC
transmembrane domain 134 152 N/A INTRINSIC
transmembrane domain 162 181 N/A INTRINSIC
transmembrane domain 202 219 N/A INTRINSIC
transmembrane domain 232 254 N/A INTRINSIC
transmembrane domain 261 280 N/A INTRINSIC
Pfam:GWT1 300 462 1.6e-36 PFAM
transmembrane domain 470 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141705
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of West syndrome and hyperphosphatasia with mental retardation syndrome. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 Q354H probably null Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Nol6 T C 4: 41,118,205 I811V probably benign Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Olfr49 A T 14: 54,282,724 M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Plekhg5 G A 4: 152,108,496 D603N probably damaging Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp454 T C 11: 50,874,206 E22G probably benign Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Pigw
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Pigw APN 11 84877888 missense possibly damaging 0.57
IGL00778:Pigw APN 11 84877324 missense possibly damaging 0.64
IGL02741:Pigw APN 11 84878366 missense probably benign
IGL03136:Pigw APN 11 84877777 missense probably benign 0.43
R0959:Pigw UTSW 11 84878207 missense probably benign 0.17
R1446:Pigw UTSW 11 84878360 missense probably benign 0.04
R1692:Pigw UTSW 11 84877066 missense probably damaging 1.00
R1851:Pigw UTSW 11 84878048 missense probably damaging 1.00
R2061:Pigw UTSW 11 84877310 missense probably benign 0.00
R3617:Pigw UTSW 11 84878307 missense probably damaging 0.98
R3693:Pigw UTSW 11 84878383 missense probably benign 0.09
R7136:Pigw UTSW 11 84877759 missense probably damaging 1.00
R7312:Pigw UTSW 11 84877759 missense probably damaging 1.00
R7317:Pigw UTSW 11 84877240 missense probably benign 0.00
R7336:Pigw UTSW 11 84877104 missense probably damaging 1.00
R7436:Pigw UTSW 11 84877963 missense probably damaging 0.97
R8002:Pigw UTSW 11 84878423 missense probably benign 0.03
RF009:Pigw UTSW 11 84877161 missense probably damaging 1.00
Posted On2013-06-21