Incidental Mutation 'IGL01450:Gpld1'
ID84587
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 #IGL01450
Quality Score
Status
Chromosome13
Chromosomal Location24943152-24992501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24979681 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 486 (Y486H)
Ref Sequence ENSEMBL: ENSMUSP00000021773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021773]
Predicted Effect probably damaging
Transcript: ENSMUST00000021773
AA Change: Y486H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: Y486H

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 probably damaging
Transcript: ENSMUST00000143010
AA Change: Y41H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120943
Gene: ENSMUSG00000021340
AA Change: Y41H

DomainStartEndE-ValueType
Int_alpha 1 58 7.43e-13 SMART
Int_alpha 64 117 2.31e0 SMART
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,051,483 R143Q possibly damaging Het
Adh4 T A 3: 138,424,033 C207S probably benign Het
Akap8 C A 17: 32,315,687 R317L probably damaging Het
Aptx T C 4: 40,688,133 T182A probably damaging Het
Ccar2 A T 14: 70,139,751 probably benign Het
Cd300ld2 T A 11: 115,012,543 probably benign Het
Cgnl1 T C 9: 71,631,862 probably benign Het
Cubn A G 2: 13,350,862 probably benign Het
Cyp2j5 T A 4: 96,658,690 T196S probably damaging Het
Dctn1 T C 6: 83,194,110 probably benign Het
Dync2li1 A T 17: 84,633,556 T67S possibly damaging Het
Fetub A G 16: 22,929,236 N54S probably benign Het
Grb10 T A 11: 11,970,432 H62L probably damaging Het
H6pd T G 4: 149,984,118 H264P probably damaging Het
Lmtk2 T C 5: 144,174,702 S747P probably benign Het
Nkpd1 T C 7: 19,523,625 F293S probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Osbpl1a A C 18: 12,871,095 F422V possibly damaging Het
Pclo A T 5: 14,677,193 probably benign Het
Phc3 G A 3: 30,914,504 R825C probably damaging Het
Plk2 G A 13: 110,396,324 V140M probably damaging Het
Racgap1 A G 15: 99,626,363 S388P probably benign Het
Rap1gds1 A T 3: 138,965,920 N146K probably damaging Het
Rgs7 C T 1: 175,086,180 V1M probably benign Het
Rps6ka5 A T 12: 100,552,991 probably benign Het
Scn4a A G 11: 106,324,661 I1163T probably damaging Het
Selenop C T 15: 3,277,273 T178M probably benign Het
Shank2 G T 7: 144,285,068 E680* probably null Het
Sipa1l2 A C 8: 125,422,577 probably null Het
Slc14a2 T C 18: 78,183,530 T437A probably damaging Het
Smarcc2 C T 10: 128,469,320 P307S probably damaging Het
Soga3 T A 10: 29,196,323 M537K probably damaging Het
Sptb C A 12: 76,624,240 R443L possibly damaging Het
Stpg3 T C 2: 25,214,610 probably benign Het
Tinag T A 9: 77,045,576 E42V possibly damaging Het
Topors C A 4: 40,262,417 R289L probably damaging Het
Ubash3a C A 17: 31,208,231 A38E probably damaging Het
Vmn2r121 T A X: 124,131,191 Y481F possibly damaging Het
Vps54 A T 11: 21,291,135 E359D probably benign Het
Xkr6 G A 14: 63,798,215 R255H probably damaging Het
Zfp750 C T 11: 121,513,029 R340H 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
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
IGL02832:Gpld1 APN 13 24952878 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
X0024:Gpld1 UTSW 13 24982596 missense probably benign
Posted On2013-11-11