Incidental Mutation 'IGL00886:Gpld1'
ID |
28814 |
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 # |
IGL00886
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 25146336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 193
(Y193*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021773]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000021773
AA Change: Y193*
|
SMART Domains |
Protein: ENSMUSP00000021773 Gene: ENSMUSG00000021340 AA Change: Y193*
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 |
noncoding transcript
Transcript: ENSMUST00000128315
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
T |
11: 110,054,101 (GRCm39) |
R67H |
possibly damaging |
Het |
Ak4 |
G |
T |
4: 101,304,386 (GRCm39) |
E59* |
probably null |
Het |
Ano10 |
T |
C |
9: 122,100,390 (GRCm39) |
N116S |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,177,254 (GRCm39) |
H658Q |
probably damaging |
Het |
Atf2 |
G |
A |
2: 73,675,847 (GRCm39) |
T208I |
possibly damaging |
Het |
Bco1 |
T |
C |
8: 117,857,376 (GRCm39) |
W448R |
probably damaging |
Het |
Cel |
A |
T |
2: 28,449,397 (GRCm39) |
C277S |
probably damaging |
Het |
Chd5 |
T |
A |
4: 152,444,156 (GRCm39) |
D296E |
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Fmo9 |
T |
C |
1: 166,507,714 (GRCm39) |
|
probably null |
Het |
Gdpgp1 |
T |
G |
7: 79,889,100 (GRCm39) |
L377R |
probably damaging |
Het |
Gm26938 |
T |
A |
5: 139,812,091 (GRCm39) |
D3V |
probably damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,980,874 (GRCm39) |
H265R |
probably damaging |
Het |
Hadh |
G |
T |
3: 131,043,465 (GRCm39) |
T83K |
probably benign |
Het |
Hao1 |
T |
C |
2: 134,365,079 (GRCm39) |
M183V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift88 |
T |
C |
14: 57,715,525 (GRCm39) |
Y523H |
probably damaging |
Het |
Il23r |
G |
T |
6: 67,450,874 (GRCm39) |
Q202K |
possibly damaging |
Het |
Iyd |
T |
C |
10: 3,540,444 (GRCm38) |
D50A |
probably benign |
Het |
Katnal2 |
A |
T |
18: 77,090,450 (GRCm39) |
L248Q |
probably damaging |
Het |
Krtap26-1 |
A |
T |
16: 88,444,267 (GRCm39) |
V118E |
possibly damaging |
Het |
Lzic |
T |
C |
4: 149,577,753 (GRCm39) |
|
probably null |
Het |
Meak7 |
T |
C |
8: 120,500,007 (GRCm39) |
|
probably benign |
Het |
Mical2 |
T |
A |
7: 111,914,279 (GRCm39) |
N316K |
probably benign |
Het |
Ndufc2 |
T |
A |
7: 97,049,397 (GRCm39) |
M1K |
probably null |
Het |
Net1 |
A |
G |
13: 3,943,391 (GRCm39) |
|
probably benign |
Het |
Or13g1 |
G |
A |
7: 85,956,259 (GRCm39) |
L21F |
probably damaging |
Het |
Pde1c |
A |
G |
6: 56,150,659 (GRCm39) |
Y287H |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,160,665 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
T |
A |
2: 60,254,668 (GRCm39) |
E1300V |
probably damaging |
Het |
Polr3g |
T |
C |
13: 81,842,796 (GRCm39) |
Y73C |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,723,654 (GRCm39) |
E4137V |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,920,643 (GRCm39) |
D1425G |
possibly damaging |
Het |
Slc25a12 |
A |
G |
2: 71,174,376 (GRCm39) |
Y23H |
possibly damaging |
Het |
Spef2 |
C |
A |
15: 9,663,181 (GRCm39) |
G867W |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,656,933 (GRCm39) |
Y698N |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,934,485 (GRCm39) |
F533I |
probably damaging |
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 |
|
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 |
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 |
2013-04-17 |