Incidental Mutation 'IGL03024:Plcl1'
| ID |
408094 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcl1
|
| Ensembl Gene |
ENSMUSG00000038349 |
| Gene Name |
phospholipase C-like 1 |
| Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
IGL03024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55734946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 96
(S96T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042986
AA Change: S96T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: S96T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
PH
|
115 |
226 |
6.98e-4 |
SMART |
|
low complexity region
|
301 |
310 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_like
|
316 |
398 |
5.9e-27 |
PFAM |
|
PLCXc
|
399 |
543 |
2.13e-82 |
SMART |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
PLCYc
|
586 |
702 |
2.15e-69 |
SMART |
|
C2
|
723 |
829 |
1.02e-21 |
SMART |
|
low complexity region
|
1080 |
1092 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants display impaired motor coordination and decreased sensitivity to the sedative diazepam. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,212,464 (GRCm39) |
F257L |
probably benign |
Het |
| Aaas |
A |
G |
15: 102,258,926 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,513 (GRCm39) |
R57W |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,746,597 (GRCm39) |
V72A |
probably damaging |
Het |
| Bcl3 |
A |
G |
7: 19,543,059 (GRCm39) |
|
probably benign |
Het |
| Blnk |
A |
T |
19: 40,982,445 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,621,089 (GRCm39) |
I230T |
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,227,576 (GRCm39) |
R485S |
possibly damaging |
Het |
| Cenpp |
C |
A |
13: 49,617,730 (GRCm39) |
A273S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,868 (GRCm39) |
V2022A |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
C |
A |
2: 145,781,919 (GRCm39) |
|
probably benign |
Het |
| Col8a1 |
T |
A |
16: 57,448,727 (GRCm39) |
H261L |
unknown |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,527 (GRCm39) |
|
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,710,160 (GRCm39) |
L203Q |
probably damaging |
Het |
| Dusp6 |
A |
G |
10: 99,102,156 (GRCm39) |
T381A |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,686 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,581,523 (GRCm39) |
D192G |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,337,780 (GRCm39) |
V299F |
probably damaging |
Het |
| Gfpt1 |
G |
T |
6: 87,030,813 (GRCm39) |
V66F |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,422,390 (GRCm39) |
|
probably benign |
Het |
| Irf8 |
T |
A |
8: 121,480,097 (GRCm39) |
S112T |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,707 (GRCm39) |
N36K |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,498,193 (GRCm39) |
I866T |
probably benign |
Het |
| Kif1c |
A |
T |
11: 70,596,015 (GRCm39) |
M210L |
probably damaging |
Het |
| Kng1 |
G |
A |
16: 22,893,442 (GRCm39) |
V272I |
possibly damaging |
Het |
| Lrig2 |
A |
C |
3: 104,401,389 (GRCm39) |
M166R |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,029,931 (GRCm39) |
L265P |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,377 (GRCm39) |
T547A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,139,305 (GRCm39) |
C541R |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,862 (GRCm39) |
F15L |
possibly damaging |
Het |
| Nipal1 |
G |
T |
5: 72,820,968 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,810,893 (GRCm39) |
N645Y |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,676,858 (GRCm39) |
F107Y |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,935 (GRCm39) |
F197I |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,280 (GRCm39) |
M103K |
probably benign |
Het |
| Prl2c1 |
A |
C |
13: 28,040,524 (GRCm39) |
D139A |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,754,055 (GRCm39) |
M43K |
possibly damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,646,315 (GRCm39) |
M1048L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,521,427 (GRCm39) |
E653G |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,664,567 (GRCm39) |
S689P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,460,455 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,991,458 (GRCm39) |
I241T |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,706,189 (GRCm39) |
D380E |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,650,442 (GRCm39) |
V560A |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,003 (GRCm39) |
H154R |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,576,380 (GRCm39) |
C247* |
probably null |
Het |
| Trim15 |
A |
G |
17: 37,177,785 (GRCm39) |
L70P |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,354,358 (GRCm39) |
L148P |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,232,538 (GRCm39) |
P627S |
probably benign |
Het |
|
| Other mutations in Plcl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Plcl1
|
APN |
1 |
55,445,695 (GRCm39) |
missense |
probably benign |
|
|
IGL00491:Plcl1
|
APN |
1 |
55,752,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00753:Plcl1
|
APN |
1 |
55,735,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Plcl1
|
APN |
1 |
55,735,555 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
K3955:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4791001:Plcl1
|
UTSW |
1 |
55,741,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0066:Plcl1
|
UTSW |
1 |
55,752,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Plcl1
|
UTSW |
1 |
55,752,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0083:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0086:Plcl1
|
UTSW |
1 |
55,754,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Plcl1
|
UTSW |
1 |
55,735,924 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0108:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1716:Plcl1
|
UTSW |
1 |
55,734,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2061:Plcl1
|
UTSW |
1 |
55,790,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2128:Plcl1
|
UTSW |
1 |
55,736,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2869:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2870:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2870:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2872:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2872:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2873:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3819:Plcl1
|
UTSW |
1 |
55,735,758 (GRCm39) |
missense |
probably benign |
|
|
R3974:Plcl1
|
UTSW |
1 |
55,737,374 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3975:Plcl1
|
UTSW |
1 |
55,737,374 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4214:Plcl1
|
UTSW |
1 |
55,790,494 (GRCm39) |
nonsense |
probably null |
|
|
R4400:Plcl1
|
UTSW |
1 |
55,754,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Plcl1
|
UTSW |
1 |
55,736,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4615:Plcl1
|
UTSW |
1 |
55,737,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Plcl1
|
UTSW |
1 |
55,735,671 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5422:Plcl1
|
UTSW |
1 |
55,736,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5568:Plcl1
|
UTSW |
1 |
55,735,309 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5781:Plcl1
|
UTSW |
1 |
55,735,148 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5809:Plcl1
|
UTSW |
1 |
55,735,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Plcl1
|
UTSW |
1 |
55,735,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Plcl1
|
UTSW |
1 |
55,735,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Plcl1
|
UTSW |
1 |
55,736,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6534:Plcl1
|
UTSW |
1 |
55,735,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6565:Plcl1
|
UTSW |
1 |
55,737,117 (GRCm39) |
nonsense |
probably null |
|
|
R6678:Plcl1
|
UTSW |
1 |
55,734,935 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6773:Plcl1
|
UTSW |
1 |
55,790,461 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6925:Plcl1
|
UTSW |
1 |
55,445,757 (GRCm39) |
nonsense |
probably null |
|
|
R7168:Plcl1
|
UTSW |
1 |
55,736,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Plcl1
|
UTSW |
1 |
55,737,377 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7522:Plcl1
|
UTSW |
1 |
55,735,523 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7527:Plcl1
|
UTSW |
1 |
55,736,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Plcl1
|
UTSW |
1 |
55,752,640 (GRCm39) |
nonsense |
probably null |
|
|
R7585:Plcl1
|
UTSW |
1 |
55,445,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7591:Plcl1
|
UTSW |
1 |
55,736,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7689:Plcl1
|
UTSW |
1 |
55,736,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Plcl1
|
UTSW |
1 |
55,736,443 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8029:Plcl1
|
UTSW |
1 |
55,735,237 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8241:Plcl1
|
UTSW |
1 |
55,734,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8323:Plcl1
|
UTSW |
1 |
55,736,895 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9000:Plcl1
|
UTSW |
1 |
55,736,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Plcl1
|
UTSW |
1 |
55,736,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9358:Plcl1
|
UTSW |
1 |
55,735,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Plcl1
|
UTSW |
1 |
55,445,587 (GRCm39) |
missense |
probably benign |
|
|
R9452:Plcl1
|
UTSW |
1 |
55,734,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Plcl1
|
UTSW |
1 |
55,735,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Plcl1
|
UTSW |
1 |
55,735,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Plcl1
|
UTSW |
1 |
55,790,443 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Plcl1
|
UTSW |
1 |
55,735,199 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1177:Plcl1
|
UTSW |
1 |
55,736,043 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2016-08-02 |
Incidental Mutation