Incidental Mutation 'IGL01646:Pld1'
| ID |
102676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28153813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 744
(Q744L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067757]
[ENSMUST00000120834]
[ENSMUST00000123539]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067757
AA Change: Q744L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: Q744L
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
PLDc
|
853 |
880 |
1.34e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120834
AA Change: Q744L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: Q744L
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
PLDc
|
853 |
880 |
1.34e-6 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123539
AA Change: Q782L
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: Q782L
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148827
AA Change: Q555L
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: Q555L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
32 |
142 |
5.71e-9 |
SMART |
|
PLDc
|
271 |
298 |
6.6e-6 |
SMART |
|
low complexity region
|
315 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
401 |
N/A |
INTRINSIC |
|
PLDc
|
665 |
715 |
2.5e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
C |
T |
4: 63,066,977 (GRCm39) |
V188I |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
| Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 (GRCm39) |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,832,877 (GRCm39) |
T241A |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,814,291 (GRCm39) |
T25K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
| Pde2a |
T |
C |
7: 101,156,918 (GRCm39) |
I628T |
possibly damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
probably benign |
Het |
|
| Other mutations in Pld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Pld1
|
APN |
3 |
28,099,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01090:Pld1
|
APN |
3 |
28,142,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01140:Pld1
|
APN |
3 |
28,132,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01830:Pld1
|
APN |
3 |
28,102,153 (GRCm39) |
splice site |
probably benign |
|
|
IGL01946:Pld1
|
APN |
3 |
28,178,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02139:Pld1
|
APN |
3 |
28,174,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02189:Pld1
|
APN |
3 |
28,174,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02476:Pld1
|
APN |
3 |
28,102,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Pld1
|
APN |
3 |
28,083,309 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02649:Pld1
|
APN |
3 |
28,141,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02720:Pld1
|
APN |
3 |
28,141,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Pld1
|
APN |
3 |
28,130,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02953:Pld1
|
APN |
3 |
28,166,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03005:Pld1
|
APN |
3 |
28,141,402 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03251:Pld1
|
APN |
3 |
28,142,814 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03331:Pld1
|
APN |
3 |
28,139,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A9681:Pld1
|
UTSW |
3 |
28,139,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03134:Pld1
|
UTSW |
3 |
28,083,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0023:Pld1
|
UTSW |
3 |
28,102,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Pld1
|
UTSW |
3 |
28,150,033 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Pld1
|
UTSW |
3 |
28,150,033 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Pld1
|
UTSW |
3 |
28,132,422 (GRCm39) |
missense |
probably benign |
|
|
R0372:Pld1
|
UTSW |
3 |
28,142,787 (GRCm39) |
splice site |
probably null |
|
|
R0454:Pld1
|
UTSW |
3 |
28,178,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Pld1
|
UTSW |
3 |
28,163,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0505:Pld1
|
UTSW |
3 |
28,174,971 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0667:Pld1
|
UTSW |
3 |
28,133,327 (GRCm39) |
splice site |
probably null |
|
|
R0678:Pld1
|
UTSW |
3 |
28,174,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0980:Pld1
|
UTSW |
3 |
28,178,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Pld1
|
UTSW |
3 |
28,103,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1235:Pld1
|
UTSW |
3 |
28,082,883 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1657:Pld1
|
UTSW |
3 |
28,125,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Pld1
|
UTSW |
3 |
28,103,389 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1705:Pld1
|
UTSW |
3 |
28,125,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1815:Pld1
|
UTSW |
3 |
28,163,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2215:Pld1
|
UTSW |
3 |
28,132,542 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3435:Pld1
|
UTSW |
3 |
28,178,772 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3522:Pld1
|
UTSW |
3 |
28,085,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Pld1
|
UTSW |
3 |
28,174,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4553:Pld1
|
UTSW |
3 |
28,178,851 (GRCm39) |
missense |
probably benign |
|
|
R4612:Pld1
|
UTSW |
3 |
28,185,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4623:Pld1
|
UTSW |
3 |
28,083,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4840:Pld1
|
UTSW |
3 |
28,130,700 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4869:Pld1
|
UTSW |
3 |
28,163,951 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4982:Pld1
|
UTSW |
3 |
28,085,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5087:Pld1
|
UTSW |
3 |
28,178,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Pld1
|
UTSW |
3 |
28,099,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Pld1
|
UTSW |
3 |
28,079,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Pld1
|
UTSW |
3 |
28,149,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6345:Pld1
|
UTSW |
3 |
28,184,896 (GRCm39) |
intron |
probably benign |
|
|
R6692:Pld1
|
UTSW |
3 |
28,095,348 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6881:Pld1
|
UTSW |
3 |
28,132,563 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7197:Pld1
|
UTSW |
3 |
28,078,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Pld1
|
UTSW |
3 |
28,130,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Pld1
|
UTSW |
3 |
28,185,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7293:Pld1
|
UTSW |
3 |
28,141,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7440:Pld1
|
UTSW |
3 |
28,095,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7524:Pld1
|
UTSW |
3 |
28,078,470 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7747:Pld1
|
UTSW |
3 |
28,141,338 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7882:Pld1
|
UTSW |
3 |
28,099,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Pld1
|
UTSW |
3 |
28,130,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8033:Pld1
|
UTSW |
3 |
28,083,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8269:Pld1
|
UTSW |
3 |
28,079,388 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8316:Pld1
|
UTSW |
3 |
28,078,361 (GRCm39) |
missense |
probably benign |
|
|
R8427:Pld1
|
UTSW |
3 |
28,142,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8523:Pld1
|
UTSW |
3 |
28,140,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Pld1
|
UTSW |
3 |
28,177,846 (GRCm39) |
missense |
|
|
|
R8850:Pld1
|
UTSW |
3 |
28,166,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9143:Pld1
|
UTSW |
3 |
28,132,643 (GRCm39) |
intron |
probably benign |
|
|
R9549:Pld1
|
UTSW |
3 |
28,125,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9648:Pld1
|
UTSW |
3 |
28,174,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pld1
|
UTSW |
3 |
28,083,392 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pld1
|
UTSW |
3 |
28,185,726 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Pld1
|
UTSW |
3 |
28,130,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation