Incidental Mutation 'R5112:Plce1'
| ID |
393989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plce1
|
| Ensembl Gene |
ENSMUSG00000024998 |
| Gene Name |
phospholipase C, epsilon 1 |
| Synonyms |
PLCepsilon, 4933403A21Rik |
| MMRRC Submission |
042700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R5112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
38469557-38773474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38640277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 508
(V508F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169713]
[ENSMUST00000182267]
[ENSMUST00000182481]
[ENSMUST00000182999]
|
| AlphaFold |
Q8K4S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169713
AA Change: V508F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: V508F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
489 |
N/A |
INTRINSIC |
|
RasGEF
|
525 |
828 |
8.06e-9 |
SMART |
|
low complexity region
|
1162 |
1172 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
1305 |
1369 |
7.6e-11 |
PFAM |
|
PLCXc
|
1373 |
1521 |
1.05e-81 |
SMART |
|
low complexity region
|
1561 |
1575 |
N/A |
INTRINSIC |
|
SCOP:d1qasa3
|
1634 |
1662 |
1e-3 |
SMART |
|
low complexity region
|
1666 |
1680 |
N/A |
INTRINSIC |
|
PLCYc
|
1710 |
1826 |
4.28e-46 |
SMART |
|
C2
|
1850 |
1948 |
3.7e-10 |
SMART |
|
PDB:2BYE|A
|
1986 |
2094 |
6e-47 |
PDB |
|
RA
|
2115 |
2218 |
1.12e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182267
AA Change: V508F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: V508F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
489 |
N/A |
INTRINSIC |
|
RasGEF
|
525 |
828 |
8.06e-9 |
SMART |
|
low complexity region
|
1162 |
1172 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
1305 |
1369 |
5.9e-11 |
PFAM |
|
PLCXc
|
1373 |
1521 |
1.05e-81 |
SMART |
|
low complexity region
|
1552 |
1581 |
N/A |
INTRINSIC |
|
SCOP:d1qasa3
|
1648 |
1676 |
1e-3 |
SMART |
|
low complexity region
|
1680 |
1694 |
N/A |
INTRINSIC |
|
PLCYc
|
1724 |
1840 |
4.28e-46 |
SMART |
|
C2
|
1864 |
1962 |
3.7e-10 |
SMART |
|
PDB:2BYE|A
|
2000 |
2108 |
6e-47 |
PDB |
|
RA
|
2129 |
2232 |
1.12e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182481
AA Change: V508F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: V508F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
489 |
N/A |
INTRINSIC |
|
RasGEF
|
525 |
828 |
8.06e-9 |
SMART |
|
low complexity region
|
1162 |
1172 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
1305 |
1369 |
8e-11 |
PFAM |
|
PLCXc
|
1373 |
1521 |
1.05e-81 |
SMART |
|
low complexity region
|
1561 |
1575 |
N/A |
INTRINSIC |
|
SCOP:d1qasa3
|
1634 |
1662 |
1e-3 |
SMART |
|
low complexity region
|
1666 |
1680 |
N/A |
INTRINSIC |
|
PLCYc
|
1710 |
1826 |
4.28e-46 |
SMART |
|
C2
|
1850 |
1948 |
3.7e-10 |
SMART |
|
PDB:2BYE|A
|
1986 |
2094 |
6e-47 |
PDB |
|
RA
|
2115 |
2218 |
1.12e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182999
AA Change: V17F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138098
Gene: ENSMUSG00000024998
AA Change: V17F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bkds_
|
4 |
62 |
2e-5 |
SMART |
|
Blast:RasGEF
|
34 |
74 |
1e-21 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,328,383 (GRCm39) |
K846R |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,184,465 (GRCm39) |
M80K |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,136,502 (GRCm39) |
K358E |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,893 (GRCm39) |
D532E |
probably benign |
Het |
| Adamts19 |
C |
T |
18: 59,164,876 (GRCm39) |
R993* |
probably null |
Het |
| Akr1c13 |
A |
G |
13: 4,244,151 (GRCm39) |
K68R |
possibly damaging |
Het |
| Amer3 |
T |
A |
1: 34,626,157 (GRCm39) |
M132K |
possibly damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,326 (GRCm39) |
D38G |
possibly damaging |
Het |
| Ano7 |
G |
A |
1: 93,325,085 (GRCm39) |
V546M |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,349,254 (GRCm39) |
|
probably null |
Het |
| Apc |
T |
A |
18: 34,449,162 (GRCm39) |
C1985* |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,484,763 (GRCm39) |
S15F |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,228,686 (GRCm39) |
N950K |
possibly damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,496 (GRCm39) |
V286A |
probably benign |
Het |
| Brox |
T |
A |
1: 183,073,541 (GRCm39) |
T79S |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,092,692 (GRCm39) |
I512F |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,158,511 (GRCm39) |
L542S |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Card10 |
C |
T |
15: 78,686,580 (GRCm39) |
|
probably null |
Het |
| Cd96 |
A |
G |
16: 45,919,301 (GRCm39) |
M240T |
probably benign |
Het |
| Cdc123 |
A |
G |
2: 5,809,748 (GRCm39) |
L221P |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,882,354 (GRCm39) |
V46A |
possibly damaging |
Het |
| Clcn3 |
G |
A |
8: 61,407,586 (GRCm39) |
H24Y |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,283,062 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
T |
12: 21,341,785 (GRCm39) |
M50L |
probably benign |
Het |
| Csf3 |
T |
A |
11: 98,593,749 (GRCm39) |
L197Q |
probably damaging |
Het |
| Ctsw |
T |
A |
19: 5,516,285 (GRCm39) |
D196V |
probably damaging |
Het |
| Dcun1d3 |
A |
T |
7: 119,457,250 (GRCm39) |
I154K |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 35,993,377 (GRCm39) |
T877A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,950,012 (GRCm39) |
L1944I |
probably benign |
Het |
| Dpf3 |
G |
T |
12: 83,417,385 (GRCm39) |
S29* |
probably null |
Het |
| Ephb1 |
A |
G |
9: 101,848,378 (GRCm39) |
I640T |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,319 (GRCm39) |
G2099S |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,454,906 (GRCm39) |
N667K |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,430,933 (GRCm39) |
D376E |
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,836,740 (GRCm39) |
Q475* |
probably null |
Het |
| Gm28051 |
G |
A |
12: 102,686,430 (GRCm39) |
Q77* |
probably null |
Het |
| Gnmt |
C |
A |
17: 47,037,256 (GRCm39) |
R176L |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,110,629 (GRCm39) |
V210D |
possibly damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,431,038 (GRCm39) |
D339E |
probably damaging |
Het |
| Hmbox1 |
A |
G |
14: 65,063,061 (GRCm39) |
Y372H |
probably damaging |
Het |
| Ier2 |
G |
T |
8: 85,389,361 (GRCm39) |
A7E |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,634,691 (GRCm39) |
T311A |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,179 (GRCm39) |
|
probably null |
Het |
| Insl6 |
G |
A |
19: 29,298,996 (GRCm39) |
Q139* |
probably null |
Het |
| Itga2b |
A |
T |
11: 102,349,017 (GRCm39) |
I729K |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,135,489 (GRCm39) |
M1814K |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,166,703 (GRCm39) |
S429F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,725,865 (GRCm39) |
N129S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,132,678 (GRCm39) |
T28M |
probably benign |
Het |
| Ly86 |
G |
T |
13: 37,559,013 (GRCm39) |
G71C |
probably damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,818 (GRCm39) |
S443G |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,229 (GRCm39) |
H376R |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,116,640 (GRCm39) |
H989R |
probably damaging |
Het |
| Neil2 |
A |
G |
14: 63,425,909 (GRCm39) |
W154R |
probably damaging |
Het |
| Nlrp12 |
G |
A |
7: 3,289,613 (GRCm39) |
H300Y |
possibly damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,439,554 (GRCm39) |
Y377F |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,008,952 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
T |
15: 44,240,039 (GRCm39) |
C500* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,180 (GRCm39) |
V26A |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,353 (GRCm39) |
V309A |
probably damaging |
Het |
| Or8g18 |
A |
G |
9: 39,149,717 (GRCm39) |
M1T |
probably null |
Het |
| Or8h9 |
A |
T |
2: 86,789,698 (GRCm39) |
Y35N |
probably damaging |
Het |
| Pabpc6 |
T |
A |
17: 9,888,540 (GRCm39) |
S4C |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,464 (GRCm39) |
R835* |
probably null |
Het |
| Parp9 |
G |
A |
16: 35,784,683 (GRCm39) |
V346I |
probably damaging |
Het |
| Pcbp4 |
C |
T |
9: 106,337,917 (GRCm39) |
T69M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,896 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
A |
T |
7: 24,324,110 (GRCm39) |
I495F |
possibly damaging |
Het |
| Pmpca |
A |
T |
2: 26,285,178 (GRCm39) |
I468F |
probably damaging |
Het |
| Pmpcb |
G |
A |
5: 21,961,441 (GRCm39) |
R399H |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,022,037 (GRCm39) |
S544P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,326 (GRCm39) |
D1274E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,733,010 (GRCm39) |
V612E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,366,982 (GRCm39) |
H639Q |
probably benign |
Het |
| Sell |
T |
A |
1: 163,892,887 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,226 (GRCm39) |
D347G |
probably benign |
Het |
| Sgip1 |
G |
A |
4: 102,726,966 (GRCm39) |
D81N |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,144 (GRCm39) |
I940F |
possibly damaging |
Het |
| Slc25a34 |
T |
A |
4: 141,348,769 (GRCm39) |
I232L |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,039,399 (GRCm39) |
K76N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,225,087 (GRCm39) |
D58E |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,068,610 (GRCm39) |
Q3059* |
probably null |
Het |
| Syce1l |
A |
C |
8: 114,378,274 (GRCm39) |
H56P |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,503 (GRCm39) |
V814A |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,597,740 (GRCm39) |
I265F |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,890,852 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
T |
C |
15: 83,380,597 (GRCm39) |
H256R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,587,583 (GRCm39) |
T195S |
probably benign |
Het |
| Unc119b |
A |
G |
5: 115,263,553 (GRCm39) |
L217P |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,231 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,425,714 (GRCm39) |
K152E |
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,941 (GRCm39) |
R486G |
probably benign |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,544 (GRCm39) |
Q400P |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,292 (GRCm39) |
V706D |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,422 (GRCm39) |
L388Q |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,383,208 (GRCm39) |
Y603F |
probably damaging |
Het |
| Zfp850 |
A |
T |
7: 27,689,658 (GRCm39) |
C183* |
probably null |
Het |
|
| Other mutations in Plce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Plce1
|
APN |
19 |
38,734,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00336:Plce1
|
APN |
19 |
38,640,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00430:Plce1
|
APN |
19 |
38,713,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00466:Plce1
|
APN |
19 |
38,709,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00477:Plce1
|
APN |
19 |
38,513,576 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL00839:Plce1
|
APN |
19 |
38,687,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Plce1
|
APN |
19 |
38,640,229 (GRCm39) |
splice site |
probably benign |
|
|
IGL01665:Plce1
|
APN |
19 |
38,513,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01826:Plce1
|
APN |
19 |
38,727,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL01833:Plce1
|
APN |
19 |
38,709,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Plce1
|
APN |
19 |
38,757,890 (GRCm39) |
splice site |
probably benign |
|
|
IGL02276:Plce1
|
APN |
19 |
38,513,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02477:Plce1
|
APN |
19 |
38,707,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL02746:Plce1
|
APN |
19 |
38,686,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Angel_food
|
UTSW |
19 |
38,715,457 (GRCm39) |
splice site |
probably benign |
|
|
Heavenly
|
UTSW |
19 |
38,766,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Plce1
|
UTSW |
19 |
38,513,628 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0058:Plce1
|
UTSW |
19 |
38,513,628 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0064:Plce1
|
UTSW |
19 |
38,769,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0116:Plce1
|
UTSW |
19 |
38,710,265 (GRCm39) |
missense |
probably benign |
|
|
R0138:Plce1
|
UTSW |
19 |
38,512,863 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0240:Plce1
|
UTSW |
19 |
38,717,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0240:Plce1
|
UTSW |
19 |
38,717,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Plce1
|
UTSW |
19 |
38,766,465 (GRCm39) |
splice site |
probably benign |
|
|
R0506:Plce1
|
UTSW |
19 |
38,748,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0578:Plce1
|
UTSW |
19 |
38,766,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Plce1
|
UTSW |
19 |
38,766,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Plce1
|
UTSW |
19 |
38,705,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0920:Plce1
|
UTSW |
19 |
38,724,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Plce1
|
UTSW |
19 |
38,755,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Plce1
|
UTSW |
19 |
38,690,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Plce1
|
UTSW |
19 |
38,693,783 (GRCm39) |
nonsense |
probably null |
|
|
R1488:Plce1
|
UTSW |
19 |
38,705,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1598:Plce1
|
UTSW |
19 |
38,709,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Plce1
|
UTSW |
19 |
38,713,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Plce1
|
UTSW |
19 |
38,705,282 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1778:Plce1
|
UTSW |
19 |
38,769,234 (GRCm39) |
splice site |
probably benign |
|
|
R1797:Plce1
|
UTSW |
19 |
38,747,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1872:Plce1
|
UTSW |
19 |
38,748,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Plce1
|
UTSW |
19 |
38,769,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Plce1
|
UTSW |
19 |
38,766,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2080:Plce1
|
UTSW |
19 |
38,715,457 (GRCm39) |
splice site |
probably benign |
|
|
R2103:Plce1
|
UTSW |
19 |
38,766,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2376:Plce1
|
UTSW |
19 |
38,766,430 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2471:Plce1
|
UTSW |
19 |
38,768,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Plce1
|
UTSW |
19 |
38,748,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Plce1
|
UTSW |
19 |
38,512,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3037:Plce1
|
UTSW |
19 |
38,766,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3104:Plce1
|
UTSW |
19 |
38,608,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3700:Plce1
|
UTSW |
19 |
38,693,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Plce1
|
UTSW |
19 |
38,766,343 (GRCm39) |
missense |
probably benign |
|
|
R3753:Plce1
|
UTSW |
19 |
38,640,278 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4027:Plce1
|
UTSW |
19 |
38,512,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Plce1
|
UTSW |
19 |
38,748,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Plce1
|
UTSW |
19 |
38,693,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4433:Plce1
|
UTSW |
19 |
38,755,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Plce1
|
UTSW |
19 |
38,512,763 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4521:Plce1
|
UTSW |
19 |
38,512,763 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4522:Plce1
|
UTSW |
19 |
38,512,763 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4524:Plce1
|
UTSW |
19 |
38,512,763 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4650:Plce1
|
UTSW |
19 |
38,513,088 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4673:Plce1
|
UTSW |
19 |
38,737,840 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4701:Plce1
|
UTSW |
19 |
38,713,451 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4828:Plce1
|
UTSW |
19 |
38,757,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Plce1
|
UTSW |
19 |
38,755,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Plce1
|
UTSW |
19 |
38,758,791 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5268:Plce1
|
UTSW |
19 |
38,747,279 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5288:Plce1
|
UTSW |
19 |
38,748,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Plce1
|
UTSW |
19 |
38,748,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Plce1
|
UTSW |
19 |
38,748,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5448:Plce1
|
UTSW |
19 |
38,768,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Plce1
|
UTSW |
19 |
38,608,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6004:Plce1
|
UTSW |
19 |
38,710,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Plce1
|
UTSW |
19 |
38,513,195 (GRCm39) |
missense |
probably benign |
|
|
R6147:Plce1
|
UTSW |
19 |
38,690,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Plce1
|
UTSW |
19 |
38,734,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Plce1
|
UTSW |
19 |
38,713,495 (GRCm39) |
splice site |
probably null |
|
|
R6306:Plce1
|
UTSW |
19 |
38,757,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Plce1
|
UTSW |
19 |
38,512,974 (GRCm39) |
nonsense |
probably null |
|
|
R6437:Plce1
|
UTSW |
19 |
38,513,576 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6522:Plce1
|
UTSW |
19 |
38,736,965 (GRCm39) |
splice site |
probably null |
|
|
R7034:Plce1
|
UTSW |
19 |
38,727,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Plce1
|
UTSW |
19 |
38,727,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Plce1
|
UTSW |
19 |
38,690,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Plce1
|
UTSW |
19 |
38,747,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Plce1
|
UTSW |
19 |
38,768,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Plce1
|
UTSW |
19 |
38,748,581 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7227:Plce1
|
UTSW |
19 |
38,715,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7253:Plce1
|
UTSW |
19 |
38,686,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Plce1
|
UTSW |
19 |
38,768,340 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7287:Plce1
|
UTSW |
19 |
38,690,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7422:Plce1
|
UTSW |
19 |
38,640,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Plce1
|
UTSW |
19 |
38,753,848 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7607:Plce1
|
UTSW |
19 |
38,513,196 (GRCm39) |
missense |
probably benign |
|
|
R7615:Plce1
|
UTSW |
19 |
38,513,109 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7653:Plce1
|
UTSW |
19 |
38,737,763 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7685:Plce1
|
UTSW |
19 |
38,736,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7716:Plce1
|
UTSW |
19 |
38,705,295 (GRCm39) |
missense |
probably benign |
|
|
R7744:Plce1
|
UTSW |
19 |
38,608,899 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7790:Plce1
|
UTSW |
19 |
38,769,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7921:Plce1
|
UTSW |
19 |
38,608,997 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8070:Plce1
|
UTSW |
19 |
38,690,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8087:Plce1
|
UTSW |
19 |
38,724,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Plce1
|
UTSW |
19 |
38,513,262 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8178:Plce1
|
UTSW |
19 |
38,761,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8321:Plce1
|
UTSW |
19 |
38,640,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8416:Plce1
|
UTSW |
19 |
38,761,441 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8544:Plce1
|
UTSW |
19 |
38,512,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8713:Plce1
|
UTSW |
19 |
38,513,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8850:Plce1
|
UTSW |
19 |
38,512,811 (GRCm39) |
missense |
probably benign |
|
|
R9217:Plce1
|
UTSW |
19 |
38,748,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Plce1
|
UTSW |
19 |
38,705,040 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9232:Plce1
|
UTSW |
19 |
38,705,423 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9332:Plce1
|
UTSW |
19 |
38,726,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Plce1
|
UTSW |
19 |
38,766,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9474:Plce1
|
UTSW |
19 |
38,766,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9475:Plce1
|
UTSW |
19 |
38,766,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9476:Plce1
|
UTSW |
19 |
38,766,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9751:Plce1
|
UTSW |
19 |
38,717,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Plce1
|
UTSW |
19 |
38,609,134 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9781:Plce1
|
UTSW |
19 |
38,513,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Plce1
|
UTSW |
19 |
38,705,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0022:Plce1
|
UTSW |
19 |
38,715,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Plce1
|
UTSW |
19 |
38,766,358 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Plce1
|
UTSW |
19 |
38,757,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Plce1
|
UTSW |
19 |
38,713,424 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Plce1
|
UTSW |
19 |
38,690,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Plce1
|
UTSW |
19 |
38,640,286 (GRCm39) |
missense |
probably null |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGACAAAAGATACATCCCTGC -3'
(R):5'- TCAGGTGAACTCAAGTCCCG -3'
Sequencing Primer
(F):5'- CAGATGTGAGGAAGGTCTCTATG -3'
(R):5'- TGAACTCAAGTCCCGGGTTAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation