Incidental Mutation 'IGL00778:Pigw'
ID13010
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: 0.145) question?
Stock #IGL00778
Quality Score
Status
Chromosome11
Chromosomal Location84876315-84880285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84877324 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 393 (I393T)
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 possibly damaging
Transcript: ENSMUST00000067058
AA Change: I393T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: I393T

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 possibly damaging
Transcript: ENSMUST00000108080
AA Change: I393T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: I393T

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: 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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Pigw
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Pigw APN 11 84877888 missense possibly damaging 0.57
IGL01062:Pigw APN 11 84877943 missense probably benign 0.00
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
R8265:Pigw UTSW 11 84880021 intron probably benign
RF009:Pigw UTSW 11 84877161 missense probably damaging 1.00
Posted On2012-12-06