Incidental Mutation 'V7583:Pigx'
ID152675
Institutional Source Beutler Lab
Gene Symbol Pigx
Ensembl Gene ENSMUSG00000023791
Gene Namephosphatidylinositol glycan anchor biosynthesis, class X
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #V7583 () of strain stinger
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location32084416-32099740 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32087422 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 129 (D129G)
Ref Sequence ENSEMBL: ENSMUSP00000141122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096109] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000147003] [ENSMUST00000147688] [ENSMUST00000155966] [ENSMUST00000189013] [ENSMUST00000215073] [ENSMUST00000232321]
Predicted Effect probably damaging
Transcript: ENSMUST00000096109
AA Change: D131G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791
AA Change: D131G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 49 249 3.24e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133584
SMART Domains Protein: ENSMUSP00000119754
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135677
Predicted Effect probably benign
Transcript: ENSMUST00000136643
SMART Domains Protein: ENSMUSP00000118256
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143011
Predicted Effect probably benign
Transcript: ENSMUST00000147003
SMART Domains Protein: ENSMUSP00000120272
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147688
SMART Domains Protein: ENSMUSP00000121801
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PIG-X 49 105 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151250
Predicted Effect probably damaging
Transcript: ENSMUST00000155966
AA Change: D129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791
AA Change: D129G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189013
AA Change: D129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791
AA Change: D129G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000215073
AA Change: D131G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232321
AA Change: D27G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6818 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,701,257 H102L possibly damaging Het
Atp6v1h A G 1: 5,124,443 T282A possibly damaging Het
Cdc42bpb C T 12: 111,296,391 G1501S probably benign Het
D630003M21Rik T C 2: 158,201,011 T870A probably benign Het
Dcaf4 C A 12: 83,537,701 probably null Het
Dnajc22 T A 15: 99,101,482 Y183N probably damaging Het
Dpyd C T 3: 118,897,126 Q295* probably null Het
Erv3 T C 2: 131,855,926 H171R possibly damaging Het
Fam221b T C 4: 43,665,865 T249A probably benign Het
Fcgr1 T C 3: 96,284,276 *405W probably null Het
Gm10770 T A 2: 150,179,484 K38* probably null Het
Golga4 A G 9: 118,556,075 E727G possibly damaging Het
Hnrnpab A T 11: 51,602,624 N252K probably benign Het
Ing1 T C 8: 11,561,934 V124A probably damaging Het
Izumo4 A T 10: 80,703,891 T155S probably benign Het
Kcnb2 A G 1: 15,710,091 I396V probably benign Het
Lrp4 C T 2: 91,488,518 S900L possibly damaging Het
Mbd5 A G 2: 49,316,410 D1713G probably damaging Het
Muc6 T G 7: 141,647,613 E808A probably benign Het
Mylk G T 16: 34,995,204 probably null Het
Nbeal2 A G 9: 110,637,937 V670A possibly damaging Het
Nphp3 T C 9: 104,035,894 probably null Het
Numbl T C 7: 27,279,602 S379P probably benign Het
Otop3 T A 11: 115,344,838 L432Q probably damaging Het
Pelp1 T A 11: 70,398,150 T257S probably damaging Het
Pik3cd A C 4: 149,657,319 L390R probably damaging Het
Plekhb1 T C 7: 100,654,618 T112A probably benign Het
Recql4 T C 15: 76,706,169 D705G possibly damaging Het
Ror1 A G 4: 100,440,933 Q501R probably damaging Het
Sirpb1b A G 3: 15,503,183 V366A probably benign Het
Slc30a4 T A 2: 122,689,538 M136L probably benign Het
Spaca1 T C 4: 34,039,311 E192G probably damaging Het
Spata31 C A 13: 64,921,648 P537T probably benign Het
Tnrc6c G A 11: 117,723,326 R770H probably damaging Het
Toe1 A T 4: 116,806,111 N56K probably damaging Het
Tprkb A G 6: 85,928,782 K150E probably damaging Het
Trps1 T C 15: 50,831,577 K150E probably damaging Het
Tspyl3 A G 2: 153,225,060 V86A probably benign Het
Vps18 A G 2: 119,297,228 Y844C probably benign Het
Wdr60 A C 12: 116,211,840 S906A possibly damaging Het
Wdr72 T A 9: 74,157,270 I528N probably damaging Het
Zfp292 C T 4: 34,806,783 C2087Y possibly damaging Het
Zfp933 G A 4: 147,826,470 A223V probably damaging Het
Zmynd8 G A 2: 165,812,394 R724* probably null Het
Other mutations in Pigx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Pigx APN 16 32084610 missense probably benign 0.43
IGL02662:Pigx APN 16 32087383 missense probably damaging 0.99
F5770:Pigx UTSW 16 32087422 missense probably damaging 1.00
R1682:Pigx UTSW 16 32087450 missense possibly damaging 0.91
R6195:Pigx UTSW 16 32084586 missense probably damaging 0.99
R6379:Pigx UTSW 16 32084523 missense probably damaging 1.00
R6521:Pigx UTSW 16 32087311 missense probably damaging 1.00
V7580:Pigx UTSW 16 32087422 missense probably damaging 1.00
Z1176:Pigx UTSW 16 32087425 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCATTTGCCGTCCTTGACTAGACC -3'
(R):5'- GCGCCCTAGAAAGTTCTGACCTTTG -3'

Sequencing Primer
(F):5'- GTCCTTGACTAGACCCTCACAC -3'
(R):5'- CCCCACCCCGATTGATATTT -3'
Posted On2014-01-29