Incidental Mutation 'R8411:Plk4'
| ID |
652661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
067881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40800019-40816883 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40813466 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 815
(T815A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000026859]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204032]
|
| AlphaFold |
Q64702 |
| PDB Structure |
Murine Sak Polo Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026858
AA Change: T815A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: T815A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
265 |
3.46e-100 |
SMART |
|
low complexity region
|
288 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
341 |
N/A |
INTRINSIC |
|
PDB:4G7N|B
|
554 |
774 |
6e-41 |
PDB |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
849 |
910 |
7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026859
|
| SMART Domains |
Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
31 |
235 |
3.6e-13 |
PFAM |
|
Pfam:MFS_1
|
43 |
387 |
4.2e-31 |
PFAM |
|
transmembrane domain
|
417 |
439 |
N/A |
INTRINSIC |
|
transmembrane domain
|
452 |
474 |
N/A |
INTRINSIC |
|
transmembrane domain
|
484 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167556
AA Change: T812A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: T812A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
265 |
3.46e-100 |
SMART |
|
low complexity region
|
288 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
341 |
N/A |
INTRINSIC |
|
PDB:4G7N|B
|
551 |
771 |
6e-41 |
PDB |
|
low complexity region
|
817 |
828 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
844 |
908 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203295
AA Change: T788A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: T788A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
265 |
3.46e-100 |
SMART |
|
low complexity region
|
288 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
341 |
N/A |
INTRINSIC |
|
PDB:4G7N|B
|
554 |
747 |
3e-32 |
PDB |
|
low complexity region
|
793 |
804 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
822 |
883 |
6.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203895
|
| SMART Domains |
Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
12 |
143 |
3.5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204032
AA Change: T47A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758
AA Change: T47A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
81 |
142 |
2.5e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to the nucleolus during G2, to centrosomes during G2/M, and to the cleavage furrow during cytokinesis. It is required for progression through mitosis, cell survival, and embryonic development. The mouse genome contains a pseudogene similar to this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene die before birth. Development is arrested around E7.5. Mice heterozygous for an ENU-induced allele or gene trap alele exhibit male hypogonadism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,137,722 (GRCm38) |
S89P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,470,676 (GRCm38) |
M367K |
probably benign |
Het |
| Adam18 |
A |
T |
8: 24,652,127 (GRCm38) |
I211N |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,427,034 (GRCm38) |
Y478C |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,736,926 (GRCm38) |
I434F |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,216,534 (GRCm38) |
K50N |
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,873,983 (GRCm38) |
Q1397H |
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,647,208 (GRCm38) |
R129Q |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,566,556 (GRCm38) |
V621A |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,922,562 (GRCm38) |
L192M |
probably benign |
Het |
| Cd5 |
G |
A |
19: 10,720,221 (GRCm38) |
P465S |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,614,931 (GRCm38) |
V84I |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,947,183 (GRCm38) |
E94G |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,762,449 (GRCm38) |
H1392R |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,555,817 (GRCm38) |
I23V |
probably benign |
Het |
| Ctnnd2 |
C |
T |
15: 30,647,033 (GRCm38) |
R292C |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,388,675 (GRCm38) |
H453L |
probably benign |
Het |
| Dnah3 |
C |
A |
7: 120,011,030 (GRCm38) |
D1728Y |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,192,824 (GRCm38) |
K179E |
possibly damaging |
Het |
| Fam3b |
T |
A |
16: 97,481,853 (GRCm38) |
Y74F |
probably benign |
Het |
| Gm5464 |
T |
C |
14: 66,869,106 (GRCm38) |
L64P |
unknown |
Het |
| Gm5624 |
T |
G |
14: 44,561,890 (GRCm38) |
N70T |
|
Het |
| Kcnh7 |
T |
A |
2: 62,764,608 (GRCm38) |
H706L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 122,880,176 (GRCm38) |
R1067H |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,950,090 (GRCm38) |
H492Q |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,050,624 (GRCm38) |
C716S |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,786,413 (GRCm38) |
Y1474H |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,816,756 (GRCm38) |
V142I |
probably benign |
Het |
| Mmp24 |
G |
T |
2: 155,814,015 (GRCm38) |
V458L |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,446,109 (GRCm38) |
S502I |
|
Het |
| Nfatc1 |
A |
T |
18: 80,667,042 (GRCm38) |
V503D |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 119,714,271 (GRCm38) |
I133T |
possibly damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,031 (GRCm38) |
Y327C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,328,916 (GRCm38) |
R360* |
probably null |
Het |
| Oog2 |
T |
A |
4: 144,194,173 (GRCm38) |
W59R |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,988,065 (GRCm38) |
T46A |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,379,539 (GRCm38) |
E96G |
probably damaging |
Het |
| Pcna |
T |
A |
2: 132,251,930 (GRCm38) |
T98S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,679,590 (GRCm38) |
C899Y |
possibly damaging |
Het |
| Phf11d |
T |
C |
14: 59,356,434 (GRCm38) |
N97S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 105,377,329 (GRCm38) |
W431* |
probably null |
Het |
| Pnma2 |
C |
T |
14: 66,916,313 (GRCm38) |
T62I |
possibly damaging |
Het |
| Ppp1r9a |
C |
T |
6: 5,057,568 (GRCm38) |
R548W |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,224,780 (GRCm38) |
S241G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rplp0 |
A |
T |
5: 115,560,764 (GRCm38) |
K26N |
probably damaging |
Het |
| Sec62 |
A |
C |
3: 30,818,782 (GRCm38) |
E338A |
unknown |
Het |
| Sema6a |
T |
C |
18: 47,248,955 (GRCm38) |
M842V |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,314,784 (GRCm38) |
V72A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,351,944 (GRCm38) |
F112S |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,720,125 (GRCm38) |
N455D |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,131,437 (GRCm38) |
F54Y |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,710,583 (GRCm38) |
V80M |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,678,636 (GRCm38) |
E34G |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,931,720 (GRCm38) |
K469E |
possibly damaging |
Het |
| Them7 |
T |
A |
2: 105,297,845 (GRCm38) |
L57Q |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,396,941 (GRCm38) |
A897V |
probably damaging |
Het |
| Tnp2 |
A |
G |
16: 10,788,508 (GRCm38) |
C32R |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,853,968 (GRCm38) |
Q1399L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,846,671 (GRCm38) |
E11074* |
probably null |
Het |
| Ubash3b |
G |
A |
9: 41,043,485 (GRCm38) |
A243V |
probably benign |
Het |
| Vash1 |
G |
A |
12: 86,680,178 (GRCm38) |
R64Q |
possibly damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,505,556 (GRCm38) |
M12L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,548,581 (GRCm38) |
H645L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 86,148,514 (GRCm38) |
I697K |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,472,257 (GRCm38) |
I704T |
probably damaging |
Het |
|
| Other mutations in Plk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Plk4
|
APN |
3 |
40,801,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01730:Plk4
|
APN |
3 |
40,805,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01906:Plk4
|
APN |
3 |
40,810,381 (GRCm38) |
missense |
probably null |
0.01 |
|
IGL02021:Plk4
|
APN |
3 |
40,810,708 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02718:Plk4
|
APN |
3 |
40,815,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03287:Plk4
|
APN |
3 |
40,805,118 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0058:Plk4
|
UTSW |
3 |
40,805,872 (GRCm38) |
missense |
probably benign |
|
|
R0058:Plk4
|
UTSW |
3 |
40,805,872 (GRCm38) |
missense |
probably benign |
|
|
R0312:Plk4
|
UTSW |
3 |
40,813,547 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0387:Plk4
|
UTSW |
3 |
40,812,884 (GRCm38) |
splice site |
probably benign |
|
|
R0411:Plk4
|
UTSW |
3 |
40,811,219 (GRCm38) |
unclassified |
probably benign |
|
|
R0480:Plk4
|
UTSW |
3 |
40,805,640 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1170:Plk4
|
UTSW |
3 |
40,801,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1268:Plk4
|
UTSW |
3 |
40,811,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1529:Plk4
|
UTSW |
3 |
40,806,536 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1987:Plk4
|
UTSW |
3 |
40,805,817 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1988:Plk4
|
UTSW |
3 |
40,805,817 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R2050:Plk4
|
UTSW |
3 |
40,810,380 (GRCm38) |
missense |
probably benign |
|
|
R4409:Plk4
|
UTSW |
3 |
40,806,549 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4727:Plk4
|
UTSW |
3 |
40,805,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4765:Plk4
|
UTSW |
3 |
40,802,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Plk4
|
UTSW |
3 |
40,805,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5022:Plk4
|
UTSW |
3 |
40,802,077 (GRCm38) |
splice site |
probably null |
|
|
R5363:Plk4
|
UTSW |
3 |
40,801,984 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5651:Plk4
|
UTSW |
3 |
40,813,505 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5665:Plk4
|
UTSW |
3 |
40,813,586 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5724:Plk4
|
UTSW |
3 |
40,801,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6391:Plk4
|
UTSW |
3 |
40,808,973 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6694:Plk4
|
UTSW |
3 |
40,801,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7412:Plk4
|
UTSW |
3 |
40,812,178 (GRCm38) |
missense |
probably benign |
|
|
R8047:Plk4
|
UTSW |
3 |
40,805,752 (GRCm38) |
missense |
probably benign |
|
|
R8165:Plk4
|
UTSW |
3 |
40,813,574 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8399:Plk4
|
UTSW |
3 |
40,808,830 (GRCm38) |
nonsense |
probably null |
|
|
R8724:Plk4
|
UTSW |
3 |
40,813,587 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9222:Plk4
|
UTSW |
3 |
40,806,555 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9294:Plk4
|
UTSW |
3 |
40,811,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Plk4
|
UTSW |
3 |
40,808,822 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9794:Plk4
|
UTSW |
3 |
40,805,100 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCGCCAACTTTAGCTAC -3'
(R):5'- CCTCATATCAACATCAGAAGCTTTC -3'
Sequencing Primer
(F):5'- CAGAAGACATGATTTGGCCT -3'
(R):5'- TTACATACACACACACATTCTCTCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation