Incidental Mutation 'R1365:Plk1'
| ID |
156001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk1
|
| Ensembl Gene |
ENSMUSG00000030867 |
| Gene Name |
polo like kinase 1 |
| Synonyms |
STPK13, Plk |
| MMRRC Submission |
039430-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
121758662-121769096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121767852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 419
(D419G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000033154]
[ENSMUST00000206198]
[ENSMUST00000206470]
|
| AlphaFold |
Q07832 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033153
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
PQQ
|
33 |
64 |
5.5e-8 |
SMART |
|
PQQ
|
115 |
147 |
4.7e-4 |
SMART |
|
PQQ
|
148 |
180 |
6.1e-2 |
SMART |
|
PQQ
|
192 |
223 |
6.2e-3 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
S_TKc
|
508 |
768 |
2.5e-11 |
SMART |
|
PUG
|
831 |
888 |
9e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033154
AA Change: D419G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
AA Change: D419G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
S_TKc
|
53 |
305 |
7.36e-95 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
418 |
479 |
4.4e-24 |
PFAM |
|
Pfam:POLO_box
|
516 |
583 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206470
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and may play a role in DNA replication during S phase. This gene is expressed in all embryonic tissues, but restricted to thymus and ovaries in adult tissues. Homozygous knockout mice were embryonic lethal, suggesting that this gene is important for early embryonic development. This gene is thought to be a potential oncogene because it is overexpressed in a variety of tumors and tumor cell lines. Depletion of this protein in cancer cells has been shown to inhibit cell proliferation and suppress oncogenic transformation; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display lethality before implantation, embryonic growth arrest, and impaired mitosis. Mice heterozygous for a null mutation display increased tumor incidence and increased incidence of aneuploidy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
| Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
| Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
| Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
| Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
| Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
| Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
| Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
Het |
|
| Other mutations in Plk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Plk1
|
APN |
7 |
121,768,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02895:Plk1
|
APN |
7 |
121,768,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03143:Plk1
|
APN |
7 |
121,760,877 (GRCm39) |
intron |
probably benign |
|
|
R0018:Plk1
|
UTSW |
7 |
121,768,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1710:Plk1
|
UTSW |
7 |
121,768,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Plk1
|
UTSW |
7 |
121,761,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Plk1
|
UTSW |
7 |
121,768,044 (GRCm39) |
unclassified |
probably benign |
|
|
R2327:Plk1
|
UTSW |
7 |
121,759,118 (GRCm39) |
missense |
probably benign |
|
|
R4887:Plk1
|
UTSW |
7 |
121,767,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Plk1
|
UTSW |
7 |
121,768,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Plk1
|
UTSW |
7 |
121,768,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Plk1
|
UTSW |
7 |
121,768,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Plk1
|
UTSW |
7 |
121,766,873 (GRCm39) |
missense |
not run |
|
|
Z1177:Plk1
|
UTSW |
7 |
121,766,873 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTTTGTACTGTCAGGCTCCTC -3'
(R):5'- CGTGCCATCACGCTCTATGTACTG -3'
Sequencing Primer
(F):5'- TGTCAGGCTCCTCCTCAGG -3'
(R):5'- GTCCCCGTCATTGTAGAGAATCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation