Incidental Mutation 'R7737:Gpld1'
| ID |
596340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpld1
|
| Ensembl Gene |
ENSMUSG00000021340 |
| Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
| Synonyms |
6330541J12Rik |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25159709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 426
(L426M)
|
| 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: L426M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: L426M
| 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 |
|
| Meta Mutation Damage Score |
0.3364 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,463,566 (GRCm39) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,851,065 (GRCm39) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,254,470 (GRCm39) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,728 (GRCm39) |
E493G |
possibly damaging |
Het |
| Arvcf |
G |
A |
16: 18,214,966 (GRCm39) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 169,110,175 (GRCm39) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,134 (GRCm39) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,558,332 (GRCm39) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,463,926 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,338 (GRCm39) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,357,649 (GRCm39) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,861,302 (GRCm39) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,530,331 (GRCm39) |
Y93* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,498 (GRCm39) |
V2095E |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,764,874 (GRCm39) |
L84R |
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,649,805 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,302,407 (GRCm39) |
Q113E |
probably benign |
Het |
| Ighmbp2 |
G |
A |
19: 3,324,467 (GRCm39) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,652,787 (GRCm39) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,121,338 (GRCm39) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,691,191 (GRCm39) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,226,430 (GRCm39) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,326,782 (GRCm39) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,699,649 (GRCm39) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,003 (GRCm39) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 108,967,723 (GRCm39) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,274 (GRCm39) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,164,235 (GRCm39) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,280,150 (GRCm39) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,623,195 (GRCm39) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,778,749 (GRCm39) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,147,257 (GRCm39) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,436,314 (GRCm39) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,268,136 (GRCm39) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,749,461 (GRCm39) |
Y202N |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,217,890 (GRCm39) |
L608P |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,632 (GRCm39) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,955,488 (GRCm39) |
S1176T |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,718,526 (GRCm39) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,252 (GRCm39) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,145,416 (GRCm39) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,013,034 (GRCm39) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,881,297 (GRCm39) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,936,796 (GRCm39) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,874,127 (GRCm39) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,856 (GRCm39) |
A427S |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,187,995 (GRCm39) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,989,622 (GRCm39) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,336,054 (GRCm39) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,194,721 (GRCm39) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,481,588 (GRCm39) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,195,080 (GRCm39) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 103,928,771 (GRCm39) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,821,910 (GRCm39) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,634 (GRCm39) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,547,016 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 80,674,941 (GRCm39) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,838,844 (GRCm39) |
N62K |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,581,738 (GRCm39) |
|
probably null |
Het |
| Zmynd11 |
G |
A |
13: 9,745,175 (GRCm39) |
T248M |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTGTGACTGTAGCCC -3'
(R):5'- GCCAACTGTTACTGTAATTATTCTCCT -3'
Sequencing Primer
(F):5'- TGTAGCCCACAGCCCTC -3'
(R):5'- AGAGCACTTGTCAGTCATGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation