Incidental Mutation 'IGL03136:Pigw'
ID410525
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: 0.142) question?
Stock #IGL03136
Quality Score
Status
Chromosome11
Chromosomal Location84876315-84880285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84877777 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 242 (I242T)
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: I242T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: I242T

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: I242T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: I242T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null 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
IGL01062:Pigw APN 11 84877943 missense probably benign 0.00
IGL02741:Pigw APN 11 84878366 missense probably benign
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 On2016-08-02