Incidental Mutation 'R9222:Plk4'
| ID |
699516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40760990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 440
(V440E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204473]
|
| AlphaFold |
Q64702 |
| PDB Structure |
Murine Sak Polo Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026858
AA Change: V440E
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: V440E
| 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 |
possibly damaging
Transcript: ENSMUST00000167556
AA Change: V440E
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: V440E
| 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 damaging
Transcript: ENSMUST00000203295
AA Change: V440E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: V440E
| 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: ENSMUST00000204473
|
| SMART Domains |
Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
13 |
114 |
4.9e-17 |
PFAM |
|
Pfam:Pkinase
|
13 |
115 |
2.4e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
A |
5: 138,560,562 (GRCm39) |
V278F |
unknown |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Actr5 |
T |
A |
2: 158,473,423 (GRCm39) |
N272K |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,567,257 (GRCm39) |
T198A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,903 (GRCm39) |
Y278C |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,783,270 (GRCm39) |
I226V |
|
Het |
| Arap2 |
T |
A |
5: 62,828,421 (GRCm39) |
T917S |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,692 (GRCm39) |
L545P |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,133,472 (GRCm39) |
L438H |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,725,831 (GRCm39) |
Y105N |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,525,610 (GRCm39) |
F1406L |
unknown |
Het |
| Celsr1 |
A |
G |
15: 85,815,471 (GRCm39) |
V1848A |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,443,499 (GRCm39) |
N417I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,579 (GRCm39) |
K1503R |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,317,203 (GRCm39) |
F141L |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,554 (GRCm39) |
V151A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,723,016 (GRCm39) |
H13L |
|
Het |
| Eif2b5 |
C |
T |
16: 20,321,382 (GRCm39) |
R312* |
probably null |
Het |
| Evc |
A |
T |
5: 37,477,650 (GRCm39) |
M343K |
probably benign |
Het |
| Fbxw17 |
T |
A |
13: 50,577,367 (GRCm39) |
D86E |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,856 (GRCm39) |
L202Q |
probably damaging |
Het |
| Fkbp9 |
G |
T |
6: 56,852,677 (GRCm39) |
V466F |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,805,087 (GRCm39) |
R1243Q |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,815,958 (GRCm39) |
T3897I |
probably benign |
Het |
| Fut7 |
T |
C |
2: 25,315,191 (GRCm39) |
S150P |
possibly damaging |
Het |
| Gstm5 |
A |
G |
3: 107,804,634 (GRCm39) |
I73V |
probably benign |
Het |
| Hspb9 |
A |
G |
11: 100,604,769 (GRCm39) |
M32V |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,825,894 (GRCm39) |
I482T |
possibly damaging |
Het |
| Khk |
C |
T |
5: 31,079,141 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,747,324 (GRCm39) |
H3333Q |
unknown |
Het |
| Lamc1 |
G |
T |
1: 153,119,087 (GRCm39) |
T844K |
probably damaging |
Het |
| Luc7l2 |
A |
T |
6: 38,542,633 (GRCm39) |
I10L |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,277,055 (GRCm39) |
I23N |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,881,919 (GRCm39) |
V711A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,366 (GRCm39) |
V32A |
probably benign |
Het |
| Oog1 |
A |
G |
12: 87,653,016 (GRCm39) |
D104G |
probably damaging |
Het |
| Or4b13 |
C |
T |
2: 90,082,820 (GRCm39) |
V171M |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,904 (GRCm39) |
D991G |
probably damaging |
Het |
| Pds5a |
G |
A |
5: 65,805,281 (GRCm39) |
H522Y |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
| Prkd2 |
A |
G |
7: 16,577,699 (GRCm39) |
I51V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,106 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rsph6a |
C |
A |
7: 18,801,986 (GRCm39) |
T600N |
possibly damaging |
Het |
| Scn11a |
A |
T |
9: 119,611,013 (GRCm39) |
V946E |
probably damaging |
Het |
| Sec11a |
G |
A |
7: 80,565,634 (GRCm39) |
L170F |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,961,450 (GRCm39) |
I215T |
|
Het |
| Slc1a1 |
A |
G |
19: 28,882,794 (GRCm39) |
I353V |
probably benign |
Het |
| Smox |
A |
G |
2: 131,362,843 (GRCm39) |
E374G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,050,633 (GRCm39) |
T727A |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,904,124 (GRCm39) |
K335N |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,985 (GRCm39) |
S1557T |
probably benign |
Het |
| Tbx19 |
C |
A |
1: 164,966,609 (GRCm39) |
V422L |
probably benign |
Het |
| Tdrd1 |
G |
T |
19: 56,831,679 (GRCm39) |
V357F |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,231 (GRCm39) |
C606R |
probably damaging |
Het |
| Tmcc1 |
C |
G |
6: 116,020,049 (GRCm39) |
G468R |
|
Het |
| Tmem209 |
G |
A |
6: 30,506,838 (GRCm39) |
T93I |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,681 (GRCm39) |
V568A |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,648,922 (GRCm39) |
I43L |
|
Het |
| Tubgcp2 |
T |
C |
7: 139,587,965 (GRCm39) |
D220G |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,992 (GRCm39) |
R219G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,465,463 (GRCm39) |
S431P |
possibly damaging |
Het |
|
| Other mutations in Plk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Plk4
|
APN |
3 |
40,756,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Plk4
|
APN |
3 |
40,760,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01906:Plk4
|
APN |
3 |
40,764,816 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL02021:Plk4
|
APN |
3 |
40,765,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02718:Plk4
|
APN |
3 |
40,769,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03287:Plk4
|
APN |
3 |
40,759,553 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0058:Plk4
|
UTSW |
3 |
40,760,307 (GRCm39) |
missense |
probably benign |
|
|
R0058:Plk4
|
UTSW |
3 |
40,760,307 (GRCm39) |
missense |
probably benign |
|
|
R0312:Plk4
|
UTSW |
3 |
40,767,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0387:Plk4
|
UTSW |
3 |
40,767,319 (GRCm39) |
splice site |
probably benign |
|
|
R0411:Plk4
|
UTSW |
3 |
40,765,654 (GRCm39) |
unclassified |
probably benign |
|
|
R0480:Plk4
|
UTSW |
3 |
40,760,075 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1170:Plk4
|
UTSW |
3 |
40,756,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1268:Plk4
|
UTSW |
3 |
40,765,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Plk4
|
UTSW |
3 |
40,760,971 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1987:Plk4
|
UTSW |
3 |
40,760,252 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1988:Plk4
|
UTSW |
3 |
40,760,252 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2050:Plk4
|
UTSW |
3 |
40,764,815 (GRCm39) |
missense |
probably benign |
|
|
R4409:Plk4
|
UTSW |
3 |
40,760,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4727:Plk4
|
UTSW |
3 |
40,759,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4765:Plk4
|
UTSW |
3 |
40,756,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plk4
|
UTSW |
3 |
40,759,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Plk4
|
UTSW |
3 |
40,756,512 (GRCm39) |
splice site |
probably null |
|
|
R5363:Plk4
|
UTSW |
3 |
40,756,419 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5651:Plk4
|
UTSW |
3 |
40,767,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5665:Plk4
|
UTSW |
3 |
40,768,021 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5724:Plk4
|
UTSW |
3 |
40,755,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Plk4
|
UTSW |
3 |
40,763,408 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6694:Plk4
|
UTSW |
3 |
40,756,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Plk4
|
UTSW |
3 |
40,766,613 (GRCm39) |
missense |
probably benign |
|
|
R8047:Plk4
|
UTSW |
3 |
40,760,187 (GRCm39) |
missense |
probably benign |
|
|
R8165:Plk4
|
UTSW |
3 |
40,768,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8399:Plk4
|
UTSW |
3 |
40,763,265 (GRCm39) |
nonsense |
probably null |
|
|
R8411:Plk4
|
UTSW |
3 |
40,767,901 (GRCm39) |
missense |
probably benign |
|
|
R8724:Plk4
|
UTSW |
3 |
40,768,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9294:Plk4
|
UTSW |
3 |
40,766,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Plk4
|
UTSW |
3 |
40,763,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Plk4
|
UTSW |
3 |
40,759,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAGCGCATATTCAGCATGTG -3'
(R):5'- AGATCTGTGTACAGTTTGCTCATG -3'
Sequencing Primer
(F):5'- GAGCGCATATTCAGCATGTGTATATG -3'
(R):5'- TGCTCATGTATAAATAGCTTTGTTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation