Incidental Mutation 'IGL03282:Gpld1'
ID 415621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpld1
Ensembl Gene ENSMUSG00000021340
Gene Name glycosylphosphatidylinositol specific phospholipase D1
Synonyms 6330541J12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03282
Quality Score
Status
Chromosome 13
Chromosomal Location 25127135-25175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25155391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 342 (M342K)
Ref Sequence ENSEMBL: ENSMUSP00000021773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021773]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021773
AA Change: M342K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: M342K

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: ENSMUST00000223873
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl1 A G 12: 70,001,238 (GRCm39) I333M possibly damaging Het
Atxn2 A G 5: 121,923,298 (GRCm39) T52A probably benign Het
Atxn7 T A 14: 14,100,564 (GRCm38) L750H probably damaging Het
Cadps T C 14: 12,465,856 (GRCm38) probably benign Het
Cts6 T A 13: 61,344,261 (GRCm39) I264F possibly damaging Het
Dnah6 G T 6: 73,030,630 (GRCm39) probably benign Het
Epg5 A G 18: 78,029,641 (GRCm39) S1335G probably benign Het
Gm10073 A T 8: 107,299,972 (GRCm39) V4D probably benign Het
Herc1 T A 9: 66,358,741 (GRCm39) F2607L probably benign Het
Ighv2-9-1 T C 12: 113,733,485 (GRCm39) Y112C probably damaging Het
Itga4 A T 2: 79,155,938 (GRCm39) H968L probably damaging Het
Me1 C T 9: 86,495,649 (GRCm39) R286Q probably damaging Het
Med1 G A 11: 98,047,643 (GRCm39) T1051M probably damaging Het
Msh2 T G 17: 87,996,430 (GRCm39) D379E probably benign Het
Mup4 T A 4: 59,958,547 (GRCm39) M118L possibly damaging Het
Ostm1 A T 10: 42,574,227 (GRCm39) S152C probably damaging Het
Pla2g1b A G 5: 115,608,939 (GRCm39) N45D probably damaging Het
Rab21 A G 10: 115,134,803 (GRCm39) probably benign Het
Rapgef4 G A 2: 72,036,096 (GRCm39) probably benign Het
Slc38a8 G T 8: 120,226,455 (GRCm39) N111K probably damaging Het
Snrnp35 A G 5: 124,628,372 (GRCm39) T62A probably damaging Het
Strn3 T C 12: 51,673,992 (GRCm39) I540V probably benign Het
Tgm1 A G 14: 55,948,527 (GRCm39) V208A probably damaging Het
Vmn1r62 A T 7: 5,678,547 (GRCm39) D76V possibly damaging Het
Vmn1r90 T A 7: 14,295,426 (GRCm39) H224L probably benign Het
Vmn1r90 A T 7: 14,296,093 (GRCm39) S2T possibly damaging Het
Other mutations in Gpld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Gpld1 APN 13 25,170,905 (GRCm39) splice site probably benign
IGL00886:Gpld1 APN 13 25,146,336 (GRCm39) nonsense probably null
IGL01060:Gpld1 APN 13 25,166,549 (GRCm39) missense probably damaging 1.00
IGL01450:Gpld1 APN 13 25,163,664 (GRCm39) missense probably damaging 1.00
IGL02176:Gpld1 APN 13 25,168,192 (GRCm39) critical splice donor site probably null
IGL02288:Gpld1 APN 13 25,163,666 (GRCm39) nonsense probably null
IGL02323:Gpld1 APN 13 25,166,757 (GRCm39) missense probably damaging 0.97
IGL02588:Gpld1 APN 13 25,127,682 (GRCm39) missense probably damaging 1.00
IGL02832:Gpld1 APN 13 25,136,861 (GRCm39) missense probably damaging 1.00
IGL02989:Gpld1 APN 13 25,174,019 (GRCm39) missense possibly damaging 0.87
IGL03345:Gpld1 APN 13 25,171,007 (GRCm39) missense probably damaging 1.00
R0017:Gpld1 UTSW 13 25,174,101 (GRCm39) missense probably damaging 1.00
R0017:Gpld1 UTSW 13 25,174,101 (GRCm39) missense probably damaging 1.00
R0308:Gpld1 UTSW 13 25,146,818 (GRCm39) missense possibly damaging 0.81
R0441:Gpld1 UTSW 13 25,146,303 (GRCm39) nonsense probably null
R1172:Gpld1 UTSW 13 25,141,549 (GRCm39) splice site probably null
R1411:Gpld1 UTSW 13 25,146,791 (GRCm39) missense probably damaging 0.99
R1502:Gpld1 UTSW 13 25,155,399 (GRCm39) missense probably benign 0.00
R1565:Gpld1 UTSW 13 25,140,051 (GRCm39) missense probably damaging 0.99
R1931:Gpld1 UTSW 13 25,127,693 (GRCm39) missense possibly damaging 0.71
R1999:Gpld1 UTSW 13 25,146,630 (GRCm39) missense probably benign 0.23
R2150:Gpld1 UTSW 13 25,146,630 (GRCm39) missense probably benign 0.23
R2240:Gpld1 UTSW 13 25,166,490 (GRCm39) critical splice acceptor site probably null
R2327:Gpld1 UTSW 13 25,168,804 (GRCm39) missense probably benign 0.00
R2373:Gpld1 UTSW 13 25,146,839 (GRCm39) missense probably benign 0.26
R3153:Gpld1 UTSW 13 25,127,603 (GRCm39) missense unknown
R3154:Gpld1 UTSW 13 25,140,146 (GRCm39) critical splice donor site probably null
R3154:Gpld1 UTSW 13 25,127,603 (GRCm39) missense unknown
R3911:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R4616:Gpld1 UTSW 13 25,168,799 (GRCm39) missense probably damaging 1.00
R4660:Gpld1 UTSW 13 25,166,586 (GRCm39) splice site probably null
R4755:Gpld1 UTSW 13 25,163,675 (GRCm39) nonsense probably null
R4755:Gpld1 UTSW 13 25,163,671 (GRCm39) missense probably benign 0.13
R4835:Gpld1 UTSW 13 25,166,699 (GRCm39) missense probably benign 0.00
R4895:Gpld1 UTSW 13 25,163,711 (GRCm39) missense probably damaging 0.97
R5050:Gpld1 UTSW 13 25,146,739 (GRCm39) missense probably benign 0.00
R5182:Gpld1 UTSW 13 25,168,053 (GRCm39) splice site probably null
R6161:Gpld1 UTSW 13 25,155,397 (GRCm39) missense probably benign 0.00
R6626:Gpld1 UTSW 13 25,163,953 (GRCm39) missense probably damaging 1.00
R7021:Gpld1 UTSW 13 25,168,691 (GRCm39) missense probably damaging 1.00
R7577:Gpld1 UTSW 13 25,146,388 (GRCm39) missense probably benign 0.05
R7583:Gpld1 UTSW 13 25,159,743 (GRCm39) missense probably damaging 1.00
R7659:Gpld1 UTSW 13 25,163,964 (GRCm39) missense probably benign 0.00
R7737:Gpld1 UTSW 13 25,159,709 (GRCm39) missense probably damaging 1.00
R7738:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R7752:Gpld1 UTSW 13 25,146,758 (GRCm39) missense probably damaging 1.00
R7759:Gpld1 UTSW 13 25,146,383 (GRCm39) missense probably damaging 0.99
R7901:Gpld1 UTSW 13 25,146,758 (GRCm39) missense probably damaging 1.00
R8855:Gpld1 UTSW 13 25,170,890 (GRCm39) missense probably benign 0.00
R8866:Gpld1 UTSW 13 25,170,890 (GRCm39) missense probably benign 0.00
R9150:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R9228:Gpld1 UTSW 13 25,136,900 (GRCm39) missense probably damaging 1.00
R9359:Gpld1 UTSW 13 25,163,712 (GRCm39) missense probably benign 0.00
R9403:Gpld1 UTSW 13 25,163,712 (GRCm39) missense probably benign 0.00
X0024:Gpld1 UTSW 13 25,166,579 (GRCm39) missense probably benign
Posted On 2016-08-02