Incidental Mutation 'R5724:Plk4'
| ID |
452362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk4
|
| Ensembl Gene |
ENSMUSG00000025758 |
| Gene Name |
polo like kinase 4 |
| Synonyms |
Stk18, Sak |
| MMRRC Submission |
043342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40755481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 26
(V26A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204473]
[ENSMUST00000204702]
|
| AlphaFold |
Q64702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026858
AA Change: V26A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: V26A
| 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: V26A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: V26A
| 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: ENSMUST00000169566
AA Change: V27A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133225
Gene: ENSMUSG00000025758
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
13 |
114 |
9.6e-17 |
PFAM |
|
Pfam:Pkinase
|
13 |
115 |
9e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203295
AA Change: V26A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: V26A
| 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: V26A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
AA Change: V26A
| 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: V27A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758
AA Change: V27A
| 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 |
probably benign
Transcript: ENSMUST00000204702
|
| SMART Domains |
Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205046
|
| Meta Mutation Damage Score |
0.9093 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
T |
A |
8: 25,294,511 (GRCm39) |
K363* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
| Adar |
G |
T |
3: 89,642,476 (GRCm39) |
G119V |
probably benign |
Het |
| Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
| Fer |
C |
A |
17: 64,231,152 (GRCm39) |
T301K |
probably damaging |
Het |
| Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,464,422 (GRCm39) |
T548A |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
| Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
| Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
| Or5b113 |
T |
A |
19: 13,342,515 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
| Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
| Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
| Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
| Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
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 |
|
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'- AGAGCGTCAAGATGCCTTCC -3'
(R):5'- ATGCACACATTTGGCAGGG -3'
Sequencing Primer
(F):5'- AGACACCTGCATCATCGAGGTG -3'
(R):5'- GCAGGGTGGCAAGGTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation