Incidental Mutation 'R6694:Plk4'
| ID |
528483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
044812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40800019-40816883 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40801828 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 58
(V58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204473]
|
| AlphaFold |
Q64702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026858
AA Change: V57A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: V57A
| 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 damaging
Transcript: ENSMUST00000167556
AA Change: V57A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: V57A
| 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: V57A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: V57A
| 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 |
noncoding transcript
Transcript: ENSMUST00000203320
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203895
AA Change: V57A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
AA Change: V57A
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
12 |
143 |
3.5e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204289
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204473
AA Change: V58A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758
AA Change: V58A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
13 |
114 |
4.9e-17 |
PFAM |
|
Pfam:Pkinase
|
13 |
115 |
2.4e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205046
|
| Meta Mutation Damage Score |
0.6461 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600015I10Rik |
G |
A |
6: 48,930,546 (GRCm38) |
S160N |
probably benign |
Het |
| 4930444G20Rik |
T |
C |
10: 22,067,721 (GRCm38) |
E120G |
probably damaging |
Het |
| Arap3 |
A |
C |
18: 37,991,537 (GRCm38) |
|
probably null |
Het |
| Arhgap10 |
A |
G |
8: 77,411,063 (GRCm38) |
F300L |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 17,142,791 (GRCm38) |
E54G |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,767,386 (GRCm38) |
I122F |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,624,505 (GRCm38) |
|
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,037,070 (GRCm38) |
D1691G |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,186,882 (GRCm38) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,549,552 (GRCm38) |
M392K |
probably damaging |
Het |
| Exoc3l |
G |
C |
8: 105,290,490 (GRCm38) |
R622G |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,931,047 (GRCm38) |
R224G |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,625,526 (GRCm38) |
E16G |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,640,757 (GRCm38) |
V568A |
possibly damaging |
Het |
| Lhx4 |
T |
C |
1: 155,704,710 (GRCm38) |
S257G |
probably benign |
Het |
| Med18 |
C |
T |
4: 132,459,982 (GRCm38) |
V114I |
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,386,961 (GRCm38) |
V92M |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,564,333 (GRCm38) |
V645I |
probably benign |
Het |
| Nuak2 |
T |
G |
1: 132,332,310 (GRCm38) |
S609A |
probably damaging |
Het |
| Olfr1393 |
A |
T |
11: 49,280,552 (GRCm38) |
I135F |
probably benign |
Het |
| Polq |
T |
A |
16: 37,015,173 (GRCm38) |
F145L |
probably null |
Het |
| Rab11fip2 |
T |
C |
19: 59,937,275 (GRCm38) |
K170R |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,759,984 (GRCm38) |
V246A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,400,543 (GRCm38) |
S316P |
probably damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,579,928 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Homo |
| Sae1 |
G |
T |
7: 16,368,536 (GRCm38) |
A171E |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,143,708 (GRCm38) |
N959K |
probably benign |
Het |
| Siae |
T |
A |
9: 37,616,823 (GRCm38) |
Y31N |
probably damaging |
Het |
| Sit1 |
C |
T |
4: 43,483,311 (GRCm38) |
G51D |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 123,267,789 (GRCm38) |
I436V |
possibly damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,622,654 (GRCm38) |
S470P |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,670,952 (GRCm38) |
C288* |
probably null |
Het |
| Timeless |
T |
G |
10: 128,239,999 (GRCm38) |
|
probably null |
Het |
| Ubxn8 |
G |
T |
8: 33,621,544 (GRCm38) |
Q274K |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,962,277 (GRCm38) |
E373G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,782,517 (GRCm38) |
Y597C |
probably damaging |
Het |
| Zfp523 |
T |
G |
17: 28,200,472 (GRCm38) |
Y195D |
probably damaging |
Het |
| Zfp74 |
G |
A |
7: 29,935,134 (GRCm38) |
A383V |
probably damaging |
Het |
| Zfp93 |
A |
T |
7: 24,275,913 (GRCm38) |
Q441L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,614,186 (GRCm38) |
Y76N |
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 |
|
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 |
|
|
R8411:Plk4
|
UTSW |
3 |
40,813,466 (GRCm38) |
missense |
probably benign |
|
|
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'- TACTCTGTTAGGTCGAGGGC -3'
(R):5'- GCACATTTCCAATACCAGGTAG -3'
Sequencing Primer
(F):5'- GCACAGATAGGAGTAAACTGACTTC -3'
(R):5'- TTTCCAATACCAGGTAGACATAATTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation