Incidental Mutation 'IGL02476:Pld1'
| ID |
294932 |
| 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 # |
IGL02476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28102188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 313
(Y313C)
|
| 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: Y313C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: Y313C
| 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: Y313C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: Y313C
| 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: Y313C
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: Y313C
| 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: Y124C
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: Y124C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149017
|
| 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 |
|---|
| Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
| Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
| Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dhx58 |
G |
T |
11: 100,593,090 (GRCm39) |
Q206K |
probably benign |
Het |
| Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
| Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,693 (GRCm39) |
K163R |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
| Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
| Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
| Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
| Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
| Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
| Neu2 |
T |
C |
1: 87,524,674 (GRCm39) |
W220R |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
| Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
| Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
| Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
| Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
| Septin11 |
T |
C |
5: 93,296,443 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
| Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,043 (GRCm39) |
I148F |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
possibly damaging |
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 |
|
IGL01646:Pld1
|
APN |
3 |
28,153,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation