Incidental Mutation 'R5651:Plk4'
| ID |
441414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
043297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5651 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40767940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 828
(T828A)
|
| 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: T828A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: T828A
| 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: T825A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: T825A
| 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: ENSMUST00000171538
AA Change: T60A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130134
Gene: ENSMUSG00000025758
AA Change: T60A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
79 |
143 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203295
AA Change: T801A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: T801A
| 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: T60A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758
AA Change: T60A
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
A |
11: 48,910,700 (GRCm39) |
H578Y |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,909,289 (GRCm39) |
D1161G |
probably damaging |
Het |
| Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,617 (GRCm39) |
V318D |
unknown |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Boc |
T |
A |
16: 44,341,558 (GRCm39) |
I16F |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,577,537 (GRCm39) |
T191S |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,739,255 (GRCm39) |
N419K |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,732,521 (GRCm39) |
G471D |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,255,364 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,449,156 (GRCm39) |
T66S |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,323,136 (GRCm39) |
D83E |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,257 (GRCm39) |
M474L |
possibly damaging |
Het |
| Hhla1 |
T |
A |
15: 65,813,663 (GRCm39) |
E223V |
probably damaging |
Het |
| Hnrnpa1 |
G |
C |
15: 103,148,955 (GRCm39) |
E5D |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,143 (GRCm39) |
V241E |
probably damaging |
Het |
| Ier5 |
T |
C |
1: 154,974,491 (GRCm39) |
E229G |
possibly damaging |
Het |
| Inka2 |
C |
A |
3: 105,623,748 (GRCm39) |
Q22K |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,331,910 (GRCm39) |
M276K |
possibly damaging |
Het |
| Mast1 |
G |
C |
8: 85,655,597 (GRCm39) |
Y182* |
probably null |
Het |
| Mia3 |
T |
A |
1: 183,139,998 (GRCm39) |
D239V |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,258,002 (GRCm39) |
D389E |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,355,016 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,520,101 (GRCm39) |
C739R |
probably null |
Het |
| Or13e8 |
C |
G |
4: 43,696,636 (GRCm39) |
C179S |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,784 (GRCm39) |
I282T |
probably benign |
Het |
| Or9e1 |
A |
T |
11: 58,732,317 (GRCm39) |
R126* |
probably null |
Het |
| Palld |
A |
T |
8: 61,991,822 (GRCm39) |
I510N |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,074,589 (GRCm39) |
E381G |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,623,200 (GRCm39) |
T618I |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,810,361 (GRCm39) |
E3631G |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Psmb5 |
C |
T |
14: 54,854,221 (GRCm39) |
A86T |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 156,984,951 (GRCm39) |
V907A |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,627,353 (GRCm39) |
T24M |
probably benign |
Het |
| Senp1 |
A |
G |
15: 97,974,498 (GRCm39) |
S105P |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,816,201 (GRCm39) |
D486G |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,555,986 (GRCm39) |
A158V |
probably benign |
Het |
| Slfn5 |
A |
C |
11: 82,851,490 (GRCm39) |
N596H |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,689,526 (GRCm39) |
D229E |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,479,455 (GRCm39) |
K57E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,343,212 (GRCm39) |
C1135Y |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,508 (GRCm39) |
L237P |
probably benign |
Het |
| Vcpip1 |
G |
A |
1: 9,818,065 (GRCm39) |
T106M |
probably damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,259,981 (GRCm39) |
I7S |
possibly damaging |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,279 (GRCm39) |
M224L |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,440,454 (GRCm39) |
D592E |
probably 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 |
|
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 |
|
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'- GCATTCGCCAACTTTAGCTAC -3'
(R):5'- TCTGCAAAACCCTTATCATGACATC -3'
Sequencing Primer
(F):5'- CAGAAGACATGATTTGGCCTTCC -3'
(R):5'- CCTCATATCAACATCAGAAGCTTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation