Incidental Mutation 'R8866:Gpld1'
| ID |
675953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpld1
|
| Ensembl Gene |
ENSMUSG00000021340 |
| Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
| Synonyms |
6330541J12Rik |
| MMRRC Submission |
068742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25170890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 794
(T794A)
|
| 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 |
probably benign
Transcript: ENSMUST00000021773
AA Change: T794A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: T794A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,914,511 (GRCm39) |
T38I |
probably benign |
Het |
| Arhgap1 |
G |
T |
2: 91,499,744 (GRCm39) |
S293I |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,853,750 (GRCm39) |
P88Q |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,161,867 (GRCm39) |
F560V |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,935,901 (GRCm39) |
N230K |
probably benign |
Het |
| Ccne1 |
A |
C |
7: 37,800,046 (GRCm39) |
H179Q |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,460,497 (GRCm39) |
L109* |
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,404,597 (GRCm39) |
N2648K |
probably benign |
Het |
| Ddx47 |
A |
G |
6: 135,000,356 (GRCm39) |
K451E |
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,435 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,156,107 (GRCm39) |
H181L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,602,333 (GRCm39) |
C2074R |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,793 (GRCm39) |
Q574H |
probably damaging |
Het |
| Eloa |
A |
C |
4: 135,737,538 (GRCm39) |
|
probably null |
Het |
| Epha7 |
A |
G |
4: 28,821,614 (GRCm39) |
I260V |
probably benign |
Het |
| Fbp2 |
T |
C |
13: 62,989,709 (GRCm39) |
K199R |
probably benign |
Het |
| Fetub |
A |
T |
16: 22,758,321 (GRCm39) |
E368V |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,810,521 (GRCm39) |
Q2280R |
probably benign |
Het |
| Fstl4 |
A |
G |
11: 52,963,233 (GRCm39) |
E205G |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,938,246 (GRCm39) |
R509S |
possibly damaging |
Het |
| Gsk3b |
A |
G |
16: 38,004,900 (GRCm39) |
Y157C |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,360,464 (GRCm39) |
N54S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,308,779 (GRCm39) |
V4022M |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,388,702 (GRCm39) |
S792P |
possibly damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,465 (GRCm39) |
I145M |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,880,533 (GRCm39) |
W212R |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,445,785 (GRCm39) |
N1009K |
probably benign |
Het |
| Lrrc10 |
T |
A |
10: 116,881,858 (GRCm39) |
N177K |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,363,790 (GRCm39) |
I121N |
probably damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,896,169 (GRCm39) |
D671V |
probably benign |
Het |
| Ndel1 |
A |
G |
11: 68,734,645 (GRCm39) |
|
probably null |
Het |
| Or10g3 |
A |
T |
14: 52,610,196 (GRCm39) |
Y105N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,555,825 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,237 (GRCm39) |
S224T |
probably damaging |
Het |
| Or51a43 |
A |
T |
7: 103,718,119 (GRCm39) |
S40T |
probably damaging |
Het |
| Otop2 |
A |
G |
11: 115,220,354 (GRCm39) |
D398G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,051 (GRCm39) |
V1246A |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,555 (GRCm39) |
D810E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,920,211 (GRCm39) |
T395S |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,116,630 (GRCm39) |
A883V |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,443,700 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,938,693 (GRCm39) |
Y526* |
probably null |
Het |
| Rbm15b |
C |
T |
9: 106,763,595 (GRCm39) |
R191Q |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
A |
G |
10: 121,924,953 (GRCm39) |
Y250H |
probably damaging |
Het |
| Serpinb6c |
A |
T |
13: 34,083,309 (GRCm39) |
I35N |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,386,961 (GRCm39) |
F246L |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,964,986 (GRCm39) |
S865G |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,711,650 (GRCm39) |
N956D |
probably benign |
Het |
| Slc30a3 |
C |
A |
5: 31,245,325 (GRCm39) |
V332F |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,806,122 (GRCm39) |
S240P |
unknown |
Het |
| Tank |
T |
A |
2: 61,409,005 (GRCm39) |
S7R |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,231 (GRCm39) |
S271P |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,965 (GRCm39) |
M313V |
probably benign |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trim29 |
T |
C |
9: 43,222,945 (GRCm39) |
V258A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,831,003 (GRCm39) |
S288C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,675 (GRCm39) |
E20819G |
probably damaging |
Het |
| Twnk |
C |
T |
19: 45,000,272 (GRCm39) |
Q663* |
probably null |
Het |
| Ucn |
T |
A |
5: 31,295,857 (GRCm39) |
Q3L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,629,388 (GRCm39) |
G1295E |
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,395,758 (GRCm39) |
R492H |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,620 (GRCm39) |
S1150P |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,327,628 (GRCm39) |
E316A |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,848 (GRCm39) |
E701G |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,710,178 (GRCm39) |
C69* |
probably null |
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 |
|
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 |
25,127,603 (GRCm39) |
missense |
unknown |
|
|
R3154:Gpld1
|
UTSW |
13 |
25,140,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCAAACATTCCCATGGAAATG -3'
(R):5'- TCAGAGCTGGTGTCAAAGC -3'
Sequencing Primer
(F):5'- CAAGACTAGGTTTTAGGATCTAGGC -3'
(R):5'- AAAGCGCAGGCCCTGTACTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation