Incidental Mutation 'R1074:Plk3'
| ID |
85560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk3
|
| Ensembl Gene |
ENSMUSG00000028680 |
| Gene Name |
polo like kinase 3 |
| Synonyms |
Cnk |
| MMRRC Submission |
039160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116985852-116991160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116988955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 268
(E268G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062206]
[ENSMUST00000076859]
[ENSMUST00000134074]
[ENSMUST00000144269]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062206
|
| SMART Domains |
Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Pfam:Tctex-1
|
121 |
217 |
3.7e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076859
AA Change: E268G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680
AA Change: E268G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
36 |
N/A |
INTRINSIC |
|
S_TKc
|
63 |
315 |
2.15e-96 |
SMART |
|
Pfam:POLO_box
|
473 |
534 |
2.7e-16 |
PFAM |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
570 |
638 |
1.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134074
|
| SMART Domains |
Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144269
|
| SMART Domains |
Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Pfam:Tctex-1
|
118 |
178 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147730
AA Change: E246G
|
| SMART Domains |
Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
9 |
N/A |
INTRINSIC |
|
S_TKc
|
42 |
294 |
2.15e-96 |
SMART |
|
Pfam:POLO_box
|
435 |
496 |
5.3e-17 |
PFAM |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
532 |
600 |
2.3e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.3253 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal catalytic domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases have primarily been implicated in cell cycle regulation. In mouse, this protein that has been reported to localize to the nucleolus during interphase but is undetectable during mitosis, following nucleolus dissociation during prophase. The protein relocalizes to the nucleolus just prior to cytokinesis and peak levels are detected during G1 of interphase. This gene has been implicated in regulation of entry into S phase, with RNAi-induced depletion resulting in failure to re-enter the cell cycle. Mice deficient for this gene exhibit increased weight and tumor development at advanced age. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Aged mice homozygous for a null allele develop tumors in various organs at an accelerated rate while mouse embryonic fibroblasts are hypersensitive to the induction of HIF-1alpha under hypoxic conditions or by nickel and cobalt ion treatments. Homozygotes for another null allele are overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,421 (GRCm39) |
S98P |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,566,113 (GRCm39) |
Q269* |
probably null |
Het |
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,417 (GRCm39) |
N603Y |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,906,274 (GRCm39) |
E143G |
probably damaging |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,098,047 (GRCm39) |
V286A |
probably benign |
Het |
| Fam117b |
C |
T |
1: 59,997,485 (GRCm39) |
A279V |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,085,541 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
C |
T |
3: 100,563,402 (GRCm39) |
R81H |
possibly damaging |
Het |
| Medag |
G |
T |
5: 149,335,674 (GRCm39) |
V78L |
probably benign |
Het |
| Meioc |
C |
T |
11: 102,566,219 (GRCm39) |
H612Y |
probably damaging |
Het |
| Nab2 |
G |
A |
10: 127,499,124 (GRCm39) |
Q385* |
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Or10p1 |
T |
C |
10: 129,444,335 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,331 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,958,140 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,950,160 (GRCm39) |
R1286* |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,826,069 (GRCm39) |
D308G |
probably damaging |
Het |
| Pzp |
T |
A |
6: 128,464,887 (GRCm39) |
N1329I |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,970,194 (GRCm39) |
T264A |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,307 (GRCm39) |
K958E |
probably benign |
Het |
| Srarp |
T |
A |
4: 141,160,707 (GRCm39) |
D42V |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,311,380 (GRCm39) |
H679L |
probably damaging |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,626,217 (GRCm39) |
D73G |
probably benign |
Het |
| Zfp512b |
A |
T |
2: 181,230,972 (GRCm39) |
S374R |
probably damaging |
Het |
|
| Other mutations in Plk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Plk3
|
APN |
4 |
116,990,194 (GRCm39) |
nonsense |
probably null |
|
|
IGL01647:Plk3
|
APN |
4 |
116,987,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Plk3
|
APN |
4 |
116,989,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03340:Plk3
|
APN |
4 |
116,990,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4283001:Plk3
|
UTSW |
4 |
116,990,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Plk3
|
UTSW |
4 |
116,990,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Plk3
|
UTSW |
4 |
116,989,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Plk3
|
UTSW |
4 |
116,990,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Plk3
|
UTSW |
4 |
116,990,633 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5232:Plk3
|
UTSW |
4 |
116,986,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5486:Plk3
|
UTSW |
4 |
116,987,600 (GRCm39) |
nonsense |
probably null |
|
|
R5655:Plk3
|
UTSW |
4 |
116,988,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Plk3
|
UTSW |
4 |
116,989,934 (GRCm39) |
nonsense |
probably null |
|
|
R7127:Plk3
|
UTSW |
4 |
116,987,767 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7380:Plk3
|
UTSW |
4 |
116,988,350 (GRCm39) |
missense |
probably benign |
|
|
R7748:Plk3
|
UTSW |
4 |
116,988,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Plk3
|
UTSW |
4 |
116,986,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Plk3
|
UTSW |
4 |
116,989,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9124:Plk3
|
UTSW |
4 |
116,989,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9126:Plk3
|
UTSW |
4 |
116,989,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9132:Plk3
|
UTSW |
4 |
116,989,090 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTCTTGGTAACTTTGGCAAAC -3'
(R):5'- TTTTCAGGACCATCTGTGGCACTC -3'
Sequencing Primer
(F):5'- GTGTGTCCTCTAGGAACATGAAC -3'
(R):5'- TCCAGAAGTGCTGCTGAGAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation