Incidental Mutation 'IGL02832:Gpld1'
ID361473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpld1
Ensembl Gene ENSMUSG00000021340
Gene Nameglycosylphosphatidylinositol specific phospholipase D1
Synonyms6330541J12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02832
Quality Score
Status
Chromosome13
Chromosomal Location24943152-24992501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24952878 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
Ref Sequence ENSEMBL: ENSMUSP00000021773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021773]
Predicted Effect probably damaging
Transcript: ENSMUST00000021773
AA Change: Y60H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: Y60H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zn_dep_PLPC 28 219 9.8e-28 PFAM
Int_alpha 377 435 7.21e-11 SMART
Int_alpha 446 503 7.43e-13 SMART
Int_alpha 509 565 7.86e-3 SMART
Int_alpha 576 643 4.09e0 SMART
Blast:Int_alpha 644 708 2e-24 BLAST
Int_alpha 716 774 1.86e-4 SMART
Blast:Int_alpha 789 837 1e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128315
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,807,175 T985M probably damaging Het
Alpk1 A G 3: 127,679,943 S804P possibly damaging Het
Ap3b1 A G 13: 94,528,327 I925V unknown Het
Cep135 T A 5: 76,640,949 S1130T probably damaging Het
Cers3 A T 7: 66,781,825 M183L probably benign Het
Col5a1 A G 2: 27,952,340 E409G unknown Het
Cyp4a32 G T 4: 115,614,621 V410F probably damaging Het
Ddx1 G A 12: 13,227,317 Q528* probably null Het
Dio2 G A 12: 90,729,404 probably benign Het
Dnah9 G T 11: 66,040,346 A2008E probably damaging Het
Dnajc2 A G 5: 21,760,410 V457A probably benign Het
Dytn T C 1: 63,643,373 T372A probably benign Het
Fam135a T C 1: 24,028,633 I152V probably benign Het
Fmnl2 C T 2: 52,858,249 A36V possibly damaging Het
Galnt7 G A 8: 57,552,497 T234I probably damaging Het
Gba A C 3: 89,203,502 I6L probably benign Het
Gja10 A G 4: 32,602,147 V79A probably damaging Het
Gpd2 T A 2: 57,338,979 V265E probably damaging Het
Heatr9 A G 11: 83,518,846 probably benign Het
Hist3h2ba A G 11: 58,949,043 K35R probably benign Het
Krt75 T A 15: 101,568,073 D419V probably benign Het
Lrig3 A T 10: 126,007,002 I599F probably benign Het
Lrp4 A G 2: 91,511,580 D1846G probably damaging Het
Mamdc2 C T 19: 23,303,851 A653T probably damaging Het
Myo7a A T 7: 98,091,020 probably null Het
Notch2 A G 3: 98,137,373 D1537G probably benign Het
Olfr370 G A 8: 83,541,471 C109Y probably damaging Het
Olfr559 G T 7: 102,723,651 H280N probably benign Het
Olfr608 A T 7: 103,470,698 I220L probably benign Het
Papss1 A C 3: 131,582,519 D84A probably damaging Het
Pcdhb16 T A 18: 37,478,474 D162E probably damaging Het
Rab11fip1 C T 8: 27,152,812 R653Q possibly damaging Het
Rap1gap2 A T 11: 74,412,455 probably benign Het
Rasal2 T C 1: 157,157,207 D990G probably damaging Het
Rnf32 T C 5: 29,205,703 probably null Het
Rp1 T C 1: 4,349,713 D392G probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Selenon A T 4: 134,540,908 V438D probably damaging Het
Slc47a1 G A 11: 61,363,413 H158Y probably benign Het
Slc5a12 A T 2: 110,640,815 E463D probably benign Het
Taf2 C T 15: 55,016,563 V1126M probably benign Het
Tas2r143 G T 6: 42,400,325 V30L possibly damaging Het
Tcea3 G A 4: 136,268,113 V256M probably damaging Het
Thy1 A G 9: 44,046,814 T80A probably benign Het
Tmem9 A G 1: 136,019,731 N47S probably damaging Het
Tmprss11g T C 5: 86,497,269 Q101R probably benign Het
Trim66 C T 7: 109,460,497 C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 M226K probably damaging Het
Utrn G T 10: 12,738,193 T378K possibly damaging Het
Vmn2r23 A G 6: 123,704,396 I88V probably benign Het
Other mutations in Gpld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Gpld1 APN 13 24986922 splice site probably benign
IGL00886:Gpld1 APN 13 24962353 nonsense probably null
IGL01060:Gpld1 APN 13 24982566 missense probably damaging 1.00
IGL01450:Gpld1 APN 13 24979681 missense probably damaging 1.00
IGL02176:Gpld1 APN 13 24984209 critical splice donor site probably null
IGL02288:Gpld1 APN 13 24979683 nonsense probably null
IGL02323:Gpld1 APN 13 24982774 missense probably damaging 0.97
IGL02588:Gpld1 APN 13 24943699 missense probably damaging 1.00
IGL02989:Gpld1 APN 13 24990036 missense possibly damaging 0.87
IGL03282:Gpld1 APN 13 24971408 missense probably benign 0.01
IGL03345:Gpld1 APN 13 24987024 missense probably damaging 1.00
R0017:Gpld1 UTSW 13 24990118 missense probably damaging 1.00
R0017:Gpld1 UTSW 13 24990118 missense probably damaging 1.00
R0308:Gpld1 UTSW 13 24962835 missense possibly damaging 0.81
R0441:Gpld1 UTSW 13 24962320 nonsense probably null
R1172:Gpld1 UTSW 13 24957566 splice site probably null
R1411:Gpld1 UTSW 13 24962808 missense probably damaging 0.99
R1502:Gpld1 UTSW 13 24971416 missense probably benign 0.00
R1565:Gpld1 UTSW 13 24956068 missense probably damaging 0.99
R1931:Gpld1 UTSW 13 24943710 missense possibly damaging 0.71
R1999:Gpld1 UTSW 13 24962647 missense probably benign 0.23
R2150:Gpld1 UTSW 13 24962647 missense probably benign 0.23
R2240:Gpld1 UTSW 13 24982507 critical splice acceptor site probably null
R2327:Gpld1 UTSW 13 24984821 missense probably benign 0.00
R2373:Gpld1 UTSW 13 24962856 missense probably benign 0.26
R3153:Gpld1 UTSW 13 24943620 missense unknown
R3154:Gpld1 UTSW 13 24943620 missense unknown
R3154:Gpld1 UTSW 13 24956163 critical splice donor site probably null
R3911:Gpld1 UTSW 13 24962322 missense probably damaging 1.00
R4616:Gpld1 UTSW 13 24984816 missense probably damaging 1.00
R4660:Gpld1 UTSW 13 24982603 unclassified probably null
R4755:Gpld1 UTSW 13 24979688 missense probably benign 0.13
R4755:Gpld1 UTSW 13 24979692 nonsense probably null
R4835:Gpld1 UTSW 13 24982716 missense probably benign 0.00
R4895:Gpld1 UTSW 13 24979728 missense probably damaging 0.97
R5050:Gpld1 UTSW 13 24962756 missense probably benign 0.00
R5182:Gpld1 UTSW 13 24984070 unclassified probably null
R6161:Gpld1 UTSW 13 24971414 missense probably benign 0.00
R6626:Gpld1 UTSW 13 24979970 missense probably damaging 1.00
R7021:Gpld1 UTSW 13 24984708 missense probably damaging 1.00
R7577:Gpld1 UTSW 13 24962405 missense probably benign 0.05
R7583:Gpld1 UTSW 13 24975760 missense probably damaging 1.00
R7659:Gpld1 UTSW 13 24979981 missense probably benign 0.00
R7737:Gpld1 UTSW 13 24975726 missense probably damaging 1.00
R7738:Gpld1 UTSW 13 24962322 missense probably damaging 1.00
R7752:Gpld1 UTSW 13 24962775 missense probably damaging 1.00
R7759:Gpld1 UTSW 13 24962400 missense probably damaging 0.99
X0024:Gpld1 UTSW 13 24982596 missense probably benign
Posted On2015-12-18