Incidental Mutation 'R0959:Pigw'
ID 81784
Institutional Source Beutler Lab
Gene Symbol Pigw
Ensembl Gene ENSMUSG00000045140
Gene Name phosphatidylinositol glycan anchor biosynthesis, class W
Synonyms 2610044A17Rik, Gwt1
MMRRC Submission 039088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0959 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 84767141-84771111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84769033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 99 (H99Y)
Ref Sequence ENSEMBL: ENSMUSP00000103715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020837] [ENSMUST00000067058] [ENSMUST00000093969] [ENSMUST00000108080]
AlphaFold Q8C398
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: H99Y

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: H99Y

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: H99Y

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: H99Y

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: ENSMUST00000141705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141173
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 95.8%
  • 20x: 89.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,434 (GRCm39) V919A probably damaging Het
Adam28 G A 14: 68,845,387 (GRCm39) P761L possibly damaging Het
Aoc1l3 T A 6: 48,965,566 (GRCm39) C525S possibly damaging Het
Aplf G A 6: 87,623,065 (GRCm39) P338L probably benign Het
Arl5b T A 2: 15,077,942 (GRCm39) I89N probably damaging Het
Asap2 T C 12: 21,297,320 (GRCm39) V596A probably damaging Het
Baz1b T G 5: 135,273,076 (GRCm39) F1400C probably damaging Het
Ccdc149 A T 5: 52,542,497 (GRCm39) L365Q probably damaging Het
Ccdc60 A G 5: 116,318,870 (GRCm39) S149P probably damaging Het
Ces1b A G 8: 93,794,775 (GRCm39) C275R probably damaging Het
Creb3 T C 4: 43,563,509 (GRCm39) L163P probably damaging Het
Dhx37 T G 5: 125,500,496 (GRCm39) N570T probably benign Het
Epc1 T C 18: 6,453,657 (GRCm39) N223D probably damaging Het
Gbp5 C T 3: 142,208,885 (GRCm39) H143Y possibly damaging Het
Gfod1 A T 13: 43,456,905 (GRCm39) D23E probably benign Het
Gm7361 A T 5: 26,467,051 (GRCm39) E223D possibly damaging Het
Izumo1 A G 7: 45,274,415 (GRCm39) K161E probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Lrp1b T C 2: 41,158,366 (GRCm39) N1617S possibly damaging Het
Med13l A T 5: 118,892,350 (GRCm39) E1924D possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtg2 T G 2: 179,725,221 (GRCm39) S145A probably benign Het
Mug2 G A 6: 122,062,454 (GRCm39) S1442N probably benign Het
Myo1b A T 1: 51,836,246 (GRCm39) I315N probably damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nsrp1 G A 11: 76,937,285 (GRCm39) R304* probably null Het
Or2a56 G T 6: 42,932,686 (GRCm39) V85L probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Parp4 T C 14: 56,885,576 (GRCm39) F1552L unknown Het
Ppp6r2 G A 15: 89,158,379 (GRCm39) M444I possibly damaging Het
Rchy1 A G 5: 92,105,476 (GRCm39) F82L probably damaging Het
Reln A C 5: 22,432,626 (GRCm39) F125V probably damaging Het
Riok1 G A 13: 38,241,149 (GRCm39) E435K probably damaging Het
Rnf213 A G 11: 119,343,407 (GRCm39) R3590G probably damaging Het
Scart2 A G 7: 139,874,704 (GRCm39) E394G probably damaging Het
Scrib G C 15: 75,923,310 (GRCm39) P1249A probably benign Het
Shc4 C T 2: 125,520,607 (GRCm39) probably null Het
Slc12a2 T A 18: 58,037,450 (GRCm39) I520N probably damaging Het
Slc26a5 A G 5: 22,021,959 (GRCm39) I484T probably benign Het
Slc39a11 G T 11: 113,354,899 (GRCm39) T110K probably benign Het
Snd1 T A 6: 28,884,970 (GRCm39) S774T probably benign Het
Spata31d1c C T 13: 65,184,129 (GRCm39) P557L probably damaging Het
Tada1 A G 1: 166,216,198 (GRCm39) D133G probably benign Het
Tg A T 15: 66,579,859 (GRCm39) T1555S probably damaging Het
Thra A G 11: 98,644,455 (GRCm39) E15G possibly damaging Het
Timd5 A T 11: 46,427,247 (GRCm39) R187* probably null Het
Ttn T A 2: 76,625,440 (GRCm39) I15128F probably damaging Het
Ube2r2 A G 4: 41,174,066 (GRCm39) Y68C probably damaging Het
Uncx A T 5: 139,532,442 (GRCm39) N169I probably damaging Het
Vmn2r100 A G 17: 19,743,786 (GRCm39) Y483C possibly damaging Het
Xkr4 T C 1: 3,286,897 (GRCm39) D431G probably damaging Het
Xylb C A 9: 119,209,091 (GRCm39) A311E possibly damaging Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb39 C A 10: 127,578,931 (GRCm39) H502N probably damaging Het
Zfp82 A G 7: 29,755,876 (GRCm39) L402P probably damaging Het
Zpbp2 G A 11: 98,448,451 (GRCm39) R256Q probably benign Het
Other mutations in Pigw
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Pigw APN 11 84,768,714 (GRCm39) missense possibly damaging 0.57
IGL00778:Pigw APN 11 84,768,150 (GRCm39) missense possibly damaging 0.64
IGL01062:Pigw APN 11 84,768,769 (GRCm39) missense probably benign 0.00
IGL02741:Pigw APN 11 84,769,192 (GRCm39) missense probably benign
IGL03136:Pigw APN 11 84,768,603 (GRCm39) missense probably benign 0.43
R1446:Pigw UTSW 11 84,769,186 (GRCm39) missense probably benign 0.04
R1692:Pigw UTSW 11 84,767,892 (GRCm39) missense probably damaging 1.00
R1851:Pigw UTSW 11 84,768,874 (GRCm39) missense probably damaging 1.00
R2061:Pigw UTSW 11 84,768,136 (GRCm39) missense probably benign 0.00
R3617:Pigw UTSW 11 84,769,133 (GRCm39) missense probably damaging 0.98
R3693:Pigw UTSW 11 84,769,209 (GRCm39) missense probably benign 0.09
R7136:Pigw UTSW 11 84,768,585 (GRCm39) missense probably damaging 1.00
R7312:Pigw UTSW 11 84,768,585 (GRCm39) missense probably damaging 1.00
R7317:Pigw UTSW 11 84,768,066 (GRCm39) missense probably benign 0.00
R7336:Pigw UTSW 11 84,767,930 (GRCm39) missense probably damaging 1.00
R7436:Pigw UTSW 11 84,768,789 (GRCm39) missense probably damaging 0.97
R8002:Pigw UTSW 11 84,769,249 (GRCm39) missense probably benign 0.03
R8265:Pigw UTSW 11 84,770,847 (GRCm39) intron probably benign
R8726:Pigw UTSW 11 84,768,643 (GRCm39) missense possibly damaging 0.84
R8893:Pigw UTSW 11 84,767,961 (GRCm39) missense possibly damaging 0.88
R9456:Pigw UTSW 11 84,768,040 (GRCm39) missense probably benign 0.04
RF009:Pigw UTSW 11 84,767,987 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCTGGACAAACCATTGCCG -3'
(R):5'- TCTTTCTCAAACACCTGGAGCACAC -3'

Sequencing Primer
(F):5'- GTCCCATAAAGTTCAGTTTTGGC -3'
(R):5'- CTGGAGCACACGATTCCTC -3'
Posted On 2013-11-08