Incidental Mutation 'IGL03287:Plk4'
| ID |
415752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40759553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 150
(I150L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204473]
|
| AlphaFold |
Q64702 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026858
AA Change: I150L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: I150L
| 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: ENSMUST00000167556
AA Change: I150L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: I150L
| 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: I150L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: I150L
| 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 benign
Transcript: ENSMUST00000203895
|
| SMART Domains |
Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
12 |
143 |
3.5e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204289
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204594
|
| Coding Region Coverage |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
T |
5: 115,008,237 (GRCm39) |
D17V |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,747 (GRCm39) |
V225E |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,826,802 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
G |
5: 30,645,887 (GRCm39) |
L127P |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,210,476 (GRCm39) |
H140R |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,760,254 (GRCm39) |
F359L |
possibly damaging |
Het |
| Kat7 |
A |
T |
11: 95,190,935 (GRCm39) |
D150E |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,299,438 (GRCm39) |
I944T |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,330,218 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,639,982 (GRCm39) |
S1142G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,027,335 (GRCm39) |
Y6889H |
probably damaging |
Het |
| Or10ak13 |
A |
G |
4: 118,639,551 (GRCm39) |
V77A |
possibly damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,845 (GRCm39) |
M1K |
probably null |
Het |
| Scn5a |
T |
C |
9: 119,318,844 (GRCm39) |
D1598G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,963,830 (GRCm39) |
K925E |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,797,135 (GRCm39) |
F22L |
possibly damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,312 (GRCm39) |
T80A |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,817 (GRCm39) |
V121A |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,630 (GRCm39) |
D545E |
possibly damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,042,964 (GRCm39) |
Y412C |
probably benign |
Het |
| Zmynd12 |
A |
G |
4: 119,310,776 (GRCm39) |
E328G |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation