Incidental Mutation 'R6161:Gpld1'
ID |
489887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpld1
|
Ensembl Gene |
ENSMUSG00000021340 |
Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
Synonyms |
6330541J12Rik |
MMRRC Submission |
044308-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6161 (G1)
|
Quality Score |
187.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25155397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 344
(Q344L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021773]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021773
AA Change: Q344L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021773 Gene: ENSMUSG00000021340 AA Change: Q344L
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: ENSMUST00000223873
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,139,934 (GRCm39) |
K1533M |
probably damaging |
Het |
Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
Atr |
A |
G |
9: 95,747,372 (GRCm39) |
H218R |
probably benign |
Het |
Atxn7l1 |
T |
A |
12: 33,408,662 (GRCm39) |
S275T |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 119,034,263 (GRCm39) |
K88R |
probably damaging |
Het |
Ccl7 |
T |
C |
11: 81,937,412 (GRCm39) |
Y49H |
probably damaging |
Het |
Cers5 |
A |
G |
15: 99,636,544 (GRCm39) |
|
probably null |
Het |
Chuk |
T |
C |
19: 44,071,076 (GRCm39) |
E543G |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,697,043 (GRCm39) |
V1318A |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,512 (GRCm39) |
H475R |
probably benign |
Het |
Fat3 |
A |
G |
9: 16,288,818 (GRCm39) |
L235P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,211,721 (GRCm39) |
C892* |
probably null |
Het |
Fbxw8 |
T |
C |
5: 118,230,740 (GRCm39) |
T354A |
possibly damaging |
Het |
Fsip2 |
A |
C |
2: 82,817,601 (GRCm39) |
T4445P |
possibly damaging |
Het |
Hao1 |
A |
T |
2: 134,347,545 (GRCm39) |
D253E |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,246,266 (GRCm39) |
D745G |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,397 (GRCm39) |
T658A |
probably benign |
Het |
Klhl35 |
A |
G |
7: 99,122,544 (GRCm39) |
|
probably benign |
Het |
Lnx2 |
C |
T |
5: 146,978,836 (GRCm39) |
|
probably null |
Het |
Map3k5 |
T |
C |
10: 19,876,321 (GRCm39) |
V160A |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,469 (GRCm39) |
I517F |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,251 (GRCm39) |
Y287* |
probably null |
Het |
Mthfr |
A |
G |
4: 148,126,211 (GRCm39) |
D94G |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,559,114 (GRCm39) |
I2393T |
unknown |
Het |
Mybbp1a |
G |
T |
11: 72,336,838 (GRCm39) |
V557L |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,536,183 (GRCm39) |
W256R |
probably damaging |
Het |
Nacad |
G |
A |
11: 6,550,902 (GRCm39) |
S763L |
probably benign |
Het |
Nebl |
A |
G |
2: 17,735,641 (GRCm39) |
V11A |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,358,743 (GRCm39) |
C1363S |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,909,105 (GRCm39) |
N772D |
probably benign |
Het |
Nqo2 |
G |
A |
13: 34,163,634 (GRCm39) |
V98M |
probably damaging |
Het |
Pak4 |
A |
G |
7: 28,264,692 (GRCm39) |
I70T |
possibly damaging |
Het |
Pbx2 |
A |
G |
17: 34,812,574 (GRCm39) |
K2E |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,255,202 (GRCm39) |
T352A |
probably benign |
Het |
Polr1g |
G |
A |
7: 19,091,558 (GRCm39) |
T183I |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,526,456 (GRCm39) |
Y684H |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,205,721 (GRCm39) |
V212A |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,768,536 (GRCm39) |
E458G |
probably damaging |
Het |
Sin3a |
T |
C |
9: 57,002,708 (GRCm39) |
V200A |
possibly damaging |
Het |
Sla |
T |
C |
15: 66,654,447 (GRCm39) |
T280A |
probably null |
Het |
Slc22a26 |
A |
T |
19: 7,763,812 (GRCm39) |
I406K |
possibly damaging |
Het |
Slc24a1 |
T |
C |
9: 64,844,545 (GRCm39) |
N606S |
unknown |
Het |
Slc39a10 |
G |
A |
1: 46,866,567 (GRCm39) |
T443M |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,762,553 (GRCm39) |
|
probably benign |
Het |
Sra1 |
G |
A |
18: 36,803,336 (GRCm39) |
A9V |
probably damaging |
Het |
Stard4 |
A |
G |
18: 33,342,109 (GRCm39) |
V47A |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,113,836 (GRCm39) |
D182V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,467,668 (GRCm39) |
F210L |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,688,667 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,612 (GRCm39) |
C140Y |
possibly damaging |
Het |
Wnt8a |
T |
C |
18: 34,678,599 (GRCm39) |
F138L |
possibly damaging |
Het |
Zfp623 |
T |
A |
15: 75,820,470 (GRCm39) |
D475E |
probably benign |
Het |
Zfp646 |
C |
T |
7: 127,477,897 (GRCm39) |
R25W |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATTGTACCCCTGCCATCATC -3'
(R):5'- CCCATGTGCCTGGTTAACAC -3'
Sequencing Primer
(F):5'- CTCTTGGACCATCTCTGTGTGACG -3'
(R):5'- CCATGTGCCTGGTTAACACAAATG -3'
|
Posted On |
2017-10-10 |