Incidental Mutation 'IGL02176:Pigo'
ID283129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigo
Ensembl Gene ENSMUSG00000028454
Gene Namephosphatidylinositol glycan anchor biosynthesis, class O
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02176
Quality Score
Status
Chromosome4
Chromosomal Location43017635-43025819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43019352 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 957 (S957P)
Ref Sequence ENSEMBL: ENSMUSP00000069749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067481] [ENSMUST00000098109]
Predicted Effect probably benign
Transcript: ENSMUST00000067481
AA Change: S957P

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: S957P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 173 300 7.3e-17 PFAM
low complexity region 308 321 N/A INTRINSIC
low complexity region 323 336 N/A INTRINSIC
low complexity region 349 360 N/A INTRINSIC
low complexity region 417 428 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 477 499 N/A INTRINSIC
transmembrane domain 509 528 N/A INTRINSIC
low complexity region 539 559 N/A INTRINSIC
transmembrane domain 669 688 N/A INTRINSIC
transmembrane domain 703 722 N/A INTRINSIC
transmembrane domain 743 765 N/A INTRINSIC
transmembrane domain 829 851 N/A INTRINSIC
transmembrane domain 858 880 N/A INTRINSIC
transmembrane domain 921 940 N/A INTRINSIC
low complexity region 955 979 N/A INTRINSIC
transmembrane domain 992 1014 N/A INTRINSIC
transmembrane domain 1029 1051 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098109
AA Change: S989P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: S989P

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Phosphodiest 129 304 6.5e-18 PFAM
low complexity region 316 329 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 357 368 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
transmembrane domain 456 478 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 517 536 N/A INTRINSIC
low complexity region 547 567 N/A INTRINSIC
transmembrane domain 677 696 N/A INTRINSIC
transmembrane domain 711 730 N/A INTRINSIC
transmembrane domain 751 773 N/A INTRINSIC
transmembrane domain 837 859 N/A INTRINSIC
transmembrane domain 866 888 N/A INTRINSIC
transmembrane domain 953 972 N/A INTRINSIC
low complexity region 987 1011 N/A INTRINSIC
transmembrane domain 1024 1046 N/A INTRINSIC
transmembrane domain 1061 1083 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000149333
AA Change: S566P
SMART Domains Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: S566P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 123 299 2.7e-18 PFAM
low complexity region 311 324 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 420 431 N/A INTRINSIC
low complexity region 450 460 N/A INTRINSIC
transmembrane domain 531 550 N/A INTRINSIC
low complexity region 565 589 N/A INTRINSIC
transmembrane domain 602 624 N/A INTRINSIC
transmembrane domain 639 661 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155429
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,970,916 R415L probably benign Het
Ankle1 C A 8: 71,406,259 H45Q probably damaging Het
Anks1b A T 10: 90,042,668 H113L probably damaging Het
Arhgap33 T A 7: 30,524,051 H851L possibly damaging Het
Atp12a C T 14: 56,387,179 S972L probably damaging Het
Atrip T C 9: 109,067,046 D301G probably benign Het
Bckdk A G 7: 127,906,373 T223A probably benign Het
C3 C A 17: 57,226,337 probably benign Het
C8g A G 2: 25,499,110 S154P probably damaging Het
Casz1 A G 4: 148,934,619 D459G probably damaging Het
Cdca7 A G 2: 72,484,644 T293A probably damaging Het
Cmya5 T A 13: 93,090,150 D2810V probably damaging Het
CN725425 G A 15: 91,245,821 V296I probably benign Het
Col17a1 A G 19: 47,651,219 M1077T probably benign Het
Ddhd1 A T 14: 45,616,600 H426Q probably damaging Het
Dpp6 C T 5: 27,723,577 T799M probably damaging Het
Efs C T 14: 54,921,042 G53D probably damaging Het
Fer1l4 A G 2: 156,048,451 V221A probably benign Het
Gabre G A X: 72,274,653 Q17* probably null Het
Gpld1 T C 13: 24,984,209 probably null Het
Gpr107 T A 2: 31,168,846 V116D probably benign Het
Huwe1 T C X: 151,903,968 S2283P possibly damaging Het
Ksr1 A G 11: 79,020,791 S722P probably benign Het
Lmbrd2 A G 15: 9,182,574 E532G probably damaging Het
Lrfn1 T C 7: 28,458,686 probably benign Het
Lrrc4c A G 2: 97,630,253 D408G probably damaging Het
Mbp A G 18: 82,554,545 E122G probably damaging Het
Myo9a T A 9: 59,870,553 D1197E probably benign Het
Ncor1 A T 11: 62,329,659 probably benign Het
Olfr1390 A G 11: 49,341,306 Y258C probably benign Het
Pdcd1lg2 A G 19: 29,437,332 E53G probably benign Het
Phex G T X: 157,268,493 A469E probably damaging Het
Ppargc1b C A 18: 61,310,874 R422I probably damaging Het
Ppargc1b T A 18: 61,310,875 R406* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Thnsl1 G T 2: 21,211,854 A140S possibly damaging Het
Tm9sf3 A G 19: 41,246,637 probably benign Het
Tma7 T A 9: 109,082,085 probably benign Het
Tmtc2 T G 10: 105,348,493 S514R probably benign Het
Unc79 G A 12: 102,998,747 probably null Het
Wdr89 A T 12: 75,633,123 I119N probably damaging Het
Wiz C A 17: 32,356,902 R843S probably damaging Het
Zfp275 T A X: 73,353,283 S12T probably damaging Het
Other mutations in Pigo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Pigo APN 4 43021767 missense possibly damaging 0.63
IGL03197:Pigo APN 4 43022103 missense possibly damaging 0.92
R0207:Pigo UTSW 4 43023824 splice site probably benign
R0464:Pigo UTSW 4 43019814 missense probably benign 0.02
R0891:Pigo UTSW 4 43020519 nonsense probably null
R1445:Pigo UTSW 4 43021460 missense probably benign
R1484:Pigo UTSW 4 43024779 missense probably damaging 0.99
R1547:Pigo UTSW 4 43020689 missense probably benign 0.01
R1624:Pigo UTSW 4 43024661 missense probably damaging 1.00
R1847:Pigo UTSW 4 43024710 nonsense probably null
R3110:Pigo UTSW 4 43021083 missense probably benign 0.00
R3111:Pigo UTSW 4 43021083 missense probably benign 0.00
R3112:Pigo UTSW 4 43021083 missense probably benign 0.00
R3824:Pigo UTSW 4 43020909 missense possibly damaging 0.95
R3850:Pigo UTSW 4 43025084 missense probably benign 0.01
R3980:Pigo UTSW 4 43019231 missense probably damaging 1.00
R3982:Pigo UTSW 4 43023482 missense probably benign 0.00
R4520:Pigo UTSW 4 43020301 missense probably benign 0.16
R5033:Pigo UTSW 4 43019412 missense probably null 1.00
R5054:Pigo UTSW 4 43021337 missense probably damaging 1.00
R5240:Pigo UTSW 4 43020675 missense possibly damaging 0.95
R5390:Pigo UTSW 4 43019645 critical splice donor site probably null
R5468:Pigo UTSW 4 43024562 critical splice donor site probably null
R5775:Pigo UTSW 4 43023475 missense probably damaging 1.00
R5839:Pigo UTSW 4 43022104 missense probably damaging 1.00
R5924:Pigo UTSW 4 43023389 nonsense probably null
R6111:Pigo UTSW 4 43019724 missense probably benign 0.18
R6451:Pigo UTSW 4 43021412 missense probably benign
R6533:Pigo UTSW 4 43022697 missense probably benign 0.07
R6884:Pigo UTSW 4 43022627 missense possibly damaging 0.88
R7026:Pigo UTSW 4 43023380 nonsense probably null
R7591:Pigo UTSW 4 43025093 missense probably benign
Z1088:Pigo UTSW 4 43019409 missense probably damaging 1.00
Posted On2015-04-16