Incidental Mutation 'IGL01450:Gpld1'
| ID |
84587 |
| 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)
|
| Stock # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25163664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 486
(Y486H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021773]
|
| AlphaFold |
no structure available at present |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
probably benign |
Het |
|
| Other mutations in Gpld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
IGL03282:Gpld1
|
APN |
13 |
25,155,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-11-11 |
Incidental Mutation