Incidental Mutation 'R1682:Pigx'
ID 189289
Institutional Source Beutler Lab
Gene Symbol Pigx
Ensembl Gene ENSMUSG00000023791
Gene Name phosphatidylinositol glycan anchor biosynthesis, class X
Synonyms 2010319C14Rik
MMRRC Submission 039718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R1682 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31903234-31918545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31906268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 18 (S18T)
Ref Sequence ENSEMBL: ENSMUSP00000156144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096109] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000147003] [ENSMUST00000155966] [ENSMUST00000189013] [ENSMUST00000215073] [ENSMUST00000232321] [ENSMUST00000147688]
AlphaFold Q99LV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000096109
AA Change: S122T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791
AA Change: S122T

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 possibly damaging
Transcript: ENSMUST00000155966
AA Change: S120T

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791
AA Change: S120T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189013
AA Change: S120T

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791
AA Change: S120T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151250
Predicted Effect possibly damaging
Transcript: ENSMUST00000215073
AA Change: S122T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232321
AA Change: S18T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,283,043 (GRCm39) D2203G probably benign Het
Acin1 A G 14: 54,901,175 (GRCm39) S629P probably damaging Het
Agbl2 T A 2: 90,614,434 (GRCm39) I22N probably benign Het
Ank1 A G 8: 23,599,343 (GRCm39) E796G probably damaging Het
Ankrd13d A G 19: 4,332,961 (GRCm39) L13P probably damaging Het
Ankrd36 T C 11: 5,557,143 (GRCm39) S364P possibly damaging Het
Ap2a1 T C 7: 44,565,362 (GRCm39) T126A probably benign Het
Apob A G 12: 8,062,365 (GRCm39) I3616V probably benign Het
Arl5a A T 2: 52,306,214 (GRCm39) N39K probably benign Het
Baiap2 G A 11: 119,888,366 (GRCm39) R334H probably damaging Het
Bbox1 T A 2: 110,122,893 (GRCm39) N132I possibly damaging Het
Bcl11b A G 12: 107,882,908 (GRCm39) L469P probably damaging Het
Brca1 A G 11: 101,416,391 (GRCm39) I581T probably damaging Het
Cacng2 T C 15: 78,002,997 (GRCm39) Y32C probably damaging Het
Capn9 G T 8: 125,338,304 (GRCm39) probably null Het
Cdh18 A G 15: 23,400,671 (GRCm39) T290A probably benign Het
Cdk5rap2 C T 4: 70,220,387 (GRCm39) V593I possibly damaging Het
Cep128 G C 12: 91,197,596 (GRCm39) D91E probably damaging Het
Cep295 T C 9: 15,245,217 (GRCm39) M1080V probably benign Het
Coq8b T A 7: 26,939,549 (GRCm39) M193K probably benign Het
Csn1s2b A G 5: 87,970,162 (GRCm39) Y131C probably damaging Het
D130043K22Rik T C 13: 25,066,539 (GRCm39) S779P probably damaging Het
Dgat1 C T 15: 76,387,219 (GRCm39) C356Y probably benign Het
Dipk1c A T 18: 84,754,988 (GRCm39) I155F possibly damaging Het
Dnah12 A T 14: 26,500,840 (GRCm39) T1543S possibly damaging Het
Dock3 T C 9: 106,851,040 (GRCm39) S821G probably damaging Het
Dock4 G A 12: 40,775,779 (GRCm39) C574Y probably damaging Het
Dr1 T C 5: 108,417,604 (GRCm39) I50T probably damaging Het
Dzip3 A T 16: 48,778,780 (GRCm39) probably null Het
Eln C A 5: 134,732,636 (GRCm39) *861L probably null Het
Eml6 T A 11: 29,709,065 (GRCm39) H24L probably benign Het
Eps8l3 A C 3: 107,798,622 (GRCm39) T503P possibly damaging Het
Fgf1 C A 18: 38,974,985 (GRCm39) D155Y possibly damaging Het
Fkbp15 A T 4: 62,242,431 (GRCm39) M507K probably damaging Het
Flnb A T 14: 7,913,121 (GRCm38) R1463S probably benign Het
Fras1 C T 5: 96,793,732 (GRCm39) T1018I probably benign Het
Gm10803 T A 2: 93,394,533 (GRCm39) C102S probably damaging Het
Gpatch1 C A 7: 35,002,812 (GRCm39) V233L possibly damaging Het
Gramd1a T C 7: 30,842,325 (GRCm39) probably null Het
Gsk3a T C 7: 24,935,133 (GRCm39) T106A possibly damaging Het
Hap1 A G 11: 100,240,302 (GRCm39) V136A possibly damaging Het
Helq A T 5: 100,940,679 (GRCm39) S307T probably benign Het
Herc2 T A 7: 55,738,148 (GRCm39) S264T possibly damaging Het
Htr4 A G 18: 62,561,137 (GRCm39) M133V possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jakmip2 A G 18: 43,714,896 (GRCm39) probably null Het
Ldhd T A 8: 112,354,745 (GRCm39) S358C possibly damaging Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Ltbp3 A G 19: 5,801,782 (GRCm39) D700G probably benign Het
Magel2 T G 7: 62,029,983 (GRCm39) S962R unknown Het
Map2 A C 1: 66,454,781 (GRCm39) probably null Het
Map3k1 T A 13: 111,893,684 (GRCm39) E704V probably damaging Het
Mrpl39 A T 16: 84,527,347 (GRCm39) V180D probably damaging Het
Myef2 T C 2: 124,939,978 (GRCm39) M383V probably damaging Het
Myh3 A G 11: 66,979,891 (GRCm39) Y610C probably damaging Het
Or10ak7 A G 4: 118,791,778 (GRCm39) L89P probably damaging Het
Or51h1 T C 7: 102,308,904 (GRCm39) V292A probably damaging Het
Or8g54 T A 9: 39,706,954 (GRCm39) Y94* probably null Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pabpc1 T A 15: 36,605,785 (GRCm39) N135I possibly damaging Het
Pcsk6 T A 7: 65,559,976 (GRCm39) H100Q probably damaging Het
Pdss1 A G 2: 22,805,531 (GRCm39) K270E probably damaging Het
Plbd2 T A 5: 120,623,849 (GRCm39) T558S probably damaging Het
Plppr1 A T 4: 49,325,617 (GRCm39) probably null Het
Plppr2 T A 9: 21,855,717 (GRCm39) V230E possibly damaging Het
Pola2 A G 19: 6,003,091 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,089,505 (GRCm39) S273P probably benign Het
Prkdc A G 16: 15,494,853 (GRCm39) E741G probably benign Het
Prom2 C A 2: 127,382,082 (GRCm39) V111L possibly damaging Het
Rapgef4 A G 2: 72,056,912 (GRCm39) D557G possibly damaging Het
Rgs10 T C 7: 127,975,694 (GRCm39) T158A probably benign Het
Rnf123 A C 9: 107,954,597 (GRCm39) Y40D probably benign Het
Rnf14 A G 18: 38,441,242 (GRCm39) T211A probably benign Het
Rp1l1 T A 14: 64,266,417 (GRCm39) S668T probably damaging Het
Sema6d T A 2: 124,507,069 (GRCm39) L946Q probably benign Het
Sgcd T G 11: 47,085,869 (GRCm39) K94Q probably benign Het
Skor2 A T 18: 76,947,211 (GRCm39) D311V unknown Het
Slc34a1 A T 13: 23,996,623 (GRCm39) I43F probably damaging Het
Spdye4c C A 2: 128,434,542 (GRCm39) P40T probably damaging Het
Srp72 C A 5: 77,135,717 (GRCm39) Q216K possibly damaging Het
Tmem62 C T 2: 120,837,538 (GRCm39) T485I probably benign Het
Tmem94 G T 11: 115,681,056 (GRCm39) V432L probably damaging Het
Trio T C 15: 27,744,232 (GRCm39) probably null Het
Uggt2 A T 14: 119,292,055 (GRCm39) D581E probably benign Het
Unc5d T A 8: 29,249,109 (GRCm39) S319C probably damaging Het
Vmn1r211 T C 13: 23,035,813 (GRCm39) I285V probably damaging Het
Vmn2r68 A G 7: 84,882,574 (GRCm39) Y393H possibly damaging Het
Vmn2r99 A C 17: 19,598,207 (GRCm39) N77T probably damaging Het
Other mutations in Pigx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Pigx APN 16 31,903,428 (GRCm39) missense probably benign 0.43
IGL02662:Pigx APN 16 31,906,201 (GRCm39) missense probably damaging 0.99
F5770:Pigx UTSW 16 31,906,240 (GRCm39) missense probably damaging 1.00
R6195:Pigx UTSW 16 31,903,404 (GRCm39) missense probably damaging 0.99
R6379:Pigx UTSW 16 31,903,341 (GRCm39) missense probably damaging 1.00
R6521:Pigx UTSW 16 31,906,129 (GRCm39) missense probably damaging 1.00
R9437:Pigx UTSW 16 31,918,310 (GRCm39) missense probably benign 0.05
V7580:Pigx UTSW 16 31,906,240 (GRCm39) missense probably damaging 1.00
V7583:Pigx UTSW 16 31,906,240 (GRCm39) missense probably damaging 1.00
Z1176:Pigx UTSW 16 31,906,243 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCCTCACCTTGGTCACAGTACATC -3'
(R):5'- CGCCCTAGAAAGTTCTGACCTTTGC -3'

Sequencing Primer
(F):5'- TGGTCACAGTACATCAGTAAGTCG -3'
(R):5'- ACAGGCAGTGATGCTATCAG -3'
Posted On 2014-05-14