Incidental Mutation 'IGL00719:Plk4'
ID |
13057 |
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 # |
IGL00719
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 40756224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 45
(D45V)
|
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: D44V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026858 Gene: ENSMUSG00000025758 AA Change: D44V
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: D44V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126945 Gene: ENSMUSG00000025758 AA Change: D44V
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: D44V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145277 Gene: ENSMUSG00000025758 AA Change: D44V
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: D44V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145455 Gene: ENSMUSG00000025758 AA Change: D44V
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: D45V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144693 Gene: ENSMUSG00000025758 AA Change: D45V
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
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Allc |
C |
T |
12: 28,614,248 (GRCm39) |
E142K |
probably benign |
Het |
Cln5 |
C |
T |
14: 103,313,468 (GRCm39) |
T240M |
possibly damaging |
Het |
Ddx42 |
T |
C |
11: 106,126,575 (GRCm39) |
V330A |
probably damaging |
Het |
Egr1 |
G |
A |
18: 34,995,547 (GRCm39) |
E110K |
possibly damaging |
Het |
Fbxw7 |
A |
G |
3: 84,876,616 (GRCm39) |
|
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,141,005 (GRCm39) |
D674G |
probably damaging |
Het |
Mboat2 |
T |
A |
12: 24,989,353 (GRCm39) |
|
probably benign |
Het |
Mga |
T |
A |
2: 119,777,934 (GRCm39) |
Y1826* |
probably null |
Het |
Mipol1 |
T |
A |
12: 57,354,139 (GRCm39) |
|
probably benign |
Het |
Pds5b |
C |
A |
5: 150,646,007 (GRCm39) |
T155N |
probably benign |
Het |
Rnf24 |
C |
T |
2: 131,147,613 (GRCm39) |
V63I |
possibly damaging |
Het |
Serpinb6b |
A |
T |
13: 33,155,529 (GRCm39) |
T81S |
probably benign |
Het |
Sesn1 |
C |
T |
10: 41,774,321 (GRCm39) |
T291I |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,732,077 (GRCm39) |
T1276A |
probably benign |
Het |
Tmbim7 |
T |
A |
5: 3,729,087 (GRCm39) |
I279N |
probably damaging |
Het |
Zfp40 |
T |
C |
17: 23,394,716 (GRCm39) |
T556A |
probably benign |
Het |
|
Other mutations in Plk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |