Incidental Mutation 'IGL02989:Gpld1'
| ID |
406840 |
| 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 # |
IGL02989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25174019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 815
(N815D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021772]
[ENSMUST00000021773]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021772
|
| SMART Domains |
Protein: ENSMUSP00000021772
Gene: ENSMUSG00000021339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
306 |
N/A |
INTRINSIC |
|
coiled coil region
|
323 |
359 |
N/A |
INTRINSIC |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
transmembrane domain
|
409 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021773
AA Change: N815D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: N815D
| 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: ENSMUST00000225296
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,422 (GRCm39) |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,670,748 (GRCm39) |
D44G |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,231,580 (GRCm39) |
*1500R |
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,322 (GRCm39) |
Y1413C |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,252 (GRCm39) |
|
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,443 (GRCm39) |
R712W |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,428,427 (GRCm39) |
S396P |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,339,813 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,837,878 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,150,563 (GRCm39) |
F1355C |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,418,243 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
G |
4: 43,007,121 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,926,845 (GRCm39) |
I375N |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,268,371 (GRCm39) |
D328V |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,107 (GRCm39) |
D26V |
probably damaging |
Het |
| Gm6563 |
T |
C |
19: 23,653,234 (GRCm39) |
L8P |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,146,125 (GRCm39) |
I134V |
probably benign |
Het |
| Idh2 |
T |
A |
7: 79,748,856 (GRCm39) |
I142F |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,552,269 (GRCm39) |
N907K |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,894 (GRCm39) |
T336A |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,760,048 (GRCm39) |
S204T |
possibly damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,651 (GRCm39) |
S175P |
possibly damaging |
Het |
| Or5b3 |
C |
A |
19: 13,388,850 (GRCm39) |
Q306K |
probably benign |
Het |
| Pilrb1 |
C |
A |
5: 137,855,492 (GRCm39) |
R133L |
possibly damaging |
Het |
| Pitpnm3 |
C |
A |
11: 72,011,012 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,617,880 (GRCm39) |
T3237I |
possibly damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,153 (GRCm39) |
|
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,847,831 (GRCm39) |
E414K |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,463 (GRCm39) |
L82Q |
probably damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,923,087 (GRCm39) |
V117A |
probably benign |
Het |
| Shisa5 |
G |
A |
9: 108,885,062 (GRCm39) |
A112T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,634,820 (GRCm39) |
H662Q |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,126,941 (GRCm39) |
E401G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,341 (GRCm39) |
M940T |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,663 (GRCm39) |
V185E |
probably damaging |
Het |
| Zfp982 |
C |
A |
4: 147,597,052 (GRCm39) |
D136E |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation