Incidental Mutation 'R8399:Plk4'
| ID |
647754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
067762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 40763265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 479
(R479*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204032]
[ENSMUST00000204473]
|
| AlphaFold |
Q64702 |
| PDB Structure |
Murine Sak Polo Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026858
AA Change: R479*
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: R479*
| 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 null
Transcript: ENSMUST00000167556
AA Change: R476*
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: R476*
| 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 null
Transcript: ENSMUST00000203295
AA Change: R479*
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: R479*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
81 |
142 |
2.5e-12 |
PFAM |
|
| 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: 99.7%
- 20x: 99.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,637,289 (GRCm39) |
V3384D |
possibly damaging |
Het |
| Apba3 |
C |
A |
10: 81,104,832 (GRCm39) |
T35N |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,698 (GRCm39) |
M219V |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,452,418 (GRCm39) |
T217S |
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,512,252 (GRCm39) |
V277I |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,415,517 (GRCm39) |
R2149W |
probably damaging |
Het |
| Cers6 |
T |
C |
2: 68,692,115 (GRCm39) |
F46L |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,452,864 (GRCm39) |
I359V |
probably benign |
Het |
| Chrnb4 |
A |
C |
9: 54,951,107 (GRCm39) |
L52R |
probably benign |
Het |
| Cox6a1 |
T |
C |
5: 115,483,958 (GRCm39) |
T95A |
probably damaging |
Het |
| Def8 |
T |
A |
8: 124,182,238 (GRCm39) |
Y197* |
probably null |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,936 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
A |
16: 16,139,536 (GRCm39) |
H484L |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,504,390 (GRCm39) |
S783N |
possibly damaging |
Het |
| Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
| Hck |
A |
C |
2: 152,980,237 (GRCm39) |
K355N |
probably damaging |
Het |
| Hexim2 |
G |
T |
11: 103,029,329 (GRCm39) |
R127L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,178 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Htr1d |
G |
A |
4: 136,170,686 (GRCm39) |
G305E |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,844 (GRCm39) |
S298L |
unknown |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,047 (GRCm39) |
V56A |
possibly damaging |
Het |
| Ighv7-1 |
G |
A |
12: 113,860,532 (GRCm39) |
T12I |
unknown |
Het |
| Kctd14 |
T |
C |
7: 97,106,811 (GRCm39) |
L22P |
probably damaging |
Het |
| Klra17 |
T |
C |
6: 129,851,900 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,433,251 (GRCm39) |
I118F |
unknown |
Het |
| Mppe1 |
T |
C |
18: 67,358,946 (GRCm39) |
T341A |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,703,363 (GRCm39) |
V186E |
probably benign |
Het |
| Nedd9 |
G |
T |
13: 41,471,950 (GRCm39) |
Y176* |
probably null |
Het |
| Omd |
A |
G |
13: 49,743,345 (GRCm39) |
I132V |
possibly damaging |
Het |
| Or12e10 |
A |
C |
2: 87,640,568 (GRCm39) |
M135L |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,237,028 (GRCm39) |
T132A |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,620,985 (GRCm39) |
M935K |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,323,101 (GRCm39) |
Y719H |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,307,091 (GRCm39) |
|
probably null |
Het |
| Raph1 |
C |
T |
1: 60,528,477 (GRCm39) |
S928N |
unknown |
Het |
| Rtp4 |
G |
T |
16: 23,339,164 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
C |
T |
9: 63,052,440 (GRCm39) |
V510I |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,789,794 (GRCm39) |
T699A |
unknown |
Het |
| Tcp11l1 |
T |
C |
2: 104,515,720 (GRCm39) |
D381G |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,548,159 (GRCm39) |
M56K |
unknown |
Het |
| Trappc9 |
G |
A |
15: 72,924,131 (GRCm39) |
R204C |
probably damaging |
Het |
| Trmt10b |
A |
T |
4: 45,305,870 (GRCm39) |
M184L |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,011 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,689 (GRCm39) |
C104* |
probably null |
Het |
| Vmn2r35 |
A |
C |
7: 7,819,897 (GRCm39) |
S124R |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,957,486 (GRCm39) |
E547G |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,606,082 (GRCm39) |
D80E |
probably benign |
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 |
|
R8411:Plk4
|
UTSW |
3 |
40,767,901 (GRCm39) |
missense |
probably benign |
|
|
R8724:Plk4
|
UTSW |
3 |
40,768,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9222:Plk4
|
UTSW |
3 |
40,760,990 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TTTCTCTCATTTAGCAAGAACAGCTAT -3'
(R):5'- GTGTCGACTCCATACTTCTATTCTTG -3'
Sequencing Primer
(F):5'- GTGTCTGAAGATAGCTACAGTGTAC -3'
(R):5'- CTATTCTTGCTTTGTTCAGAATGAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation