Incidental Mutation 'R4409:Plk4'
ID |
327792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plk4
|
Ensembl Gene |
ENSMUSG00000025758 |
Gene Name |
polo like kinase 4 |
Synonyms |
Stk18, Sak |
MMRRC Submission |
041691-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4409 (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 40760984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 438
(E438G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204473]
|
AlphaFold |
Q64702 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026858
AA Change: E438G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026858 Gene: ENSMUSG00000025758 AA Change: E438G
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 |
possibly damaging
Transcript: ENSMUST00000167556
AA Change: E438G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126945 Gene: ENSMUSG00000025758 AA Change: E438G
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: E438G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145277 Gene: ENSMUSG00000025758 AA Change: E438G
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 |
noncoding transcript
Transcript: ENSMUST00000205046
|
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: ENSMUST00000204594
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
T |
4: 144,447,872 (GRCm39) |
S35T |
possibly damaging |
Het |
Abcb5 |
A |
C |
12: 118,836,657 (GRCm39) |
L1085V |
probably damaging |
Het |
Adgrf5 |
T |
C |
17: 43,752,738 (GRCm39) |
V560A |
probably damaging |
Het |
Ambp |
C |
A |
4: 63,070,884 (GRCm39) |
S65I |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,914,506 (GRCm39) |
D1712G |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,162 (GRCm39) |
S105T |
probably damaging |
Het |
Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
Ccdc18 |
C |
T |
5: 108,368,708 (GRCm39) |
Q1277* |
probably null |
Het |
Clca3a1 |
A |
G |
3: 144,711,788 (GRCm39) |
F736L |
probably damaging |
Het |
Col6a1 |
T |
C |
10: 76,557,334 (GRCm39) |
H206R |
probably benign |
Het |
Crybg1 |
C |
T |
10: 43,874,754 (GRCm39) |
A785T |
possibly damaging |
Het |
Cyp2c68 |
T |
A |
19: 39,727,896 (GRCm39) |
E85D |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
Gm10226 |
G |
T |
17: 21,910,876 (GRCm39) |
C37F |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,503,182 (GRCm39) |
Y411C |
possibly damaging |
Het |
Grin1 |
T |
C |
2: 25,200,451 (GRCm39) |
N224D |
possibly damaging |
Het |
H2-T5 |
T |
A |
17: 36,476,742 (GRCm39) |
H244L |
possibly damaging |
Het |
Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
Il1rap |
G |
A |
16: 26,531,015 (GRCm39) |
|
probably null |
Het |
Iqcg |
A |
G |
16: 32,865,888 (GRCm39) |
|
probably null |
Het |
Klhdc3 |
C |
T |
17: 46,987,944 (GRCm39) |
G249E |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Macrod2 |
T |
G |
2: 140,260,777 (GRCm39) |
H68Q |
possibly damaging |
Het |
Morn4 |
T |
C |
19: 42,066,986 (GRCm39) |
T2A |
possibly damaging |
Het |
Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,258,226 (GRCm39) |
D300G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,807,955 (GRCm39) |
Y1859C |
probably damaging |
Het |
Nacc1 |
A |
G |
8: 85,399,673 (GRCm39) |
*515Q |
probably null |
Het |
Or1ad6 |
T |
A |
11: 50,860,223 (GRCm39) |
I126N |
probably damaging |
Het |
Or4n5 |
T |
A |
14: 50,133,230 (GRCm39) |
T10S |
probably benign |
Het |
Or5g29 |
T |
C |
2: 85,421,274 (GRCm39) |
L130S |
probably damaging |
Het |
Oxgr1 |
C |
T |
14: 120,259,572 (GRCm39) |
V212M |
possibly damaging |
Het |
P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
Pcdha9 |
T |
A |
18: 37,132,198 (GRCm39) |
H422Q |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,901,138 (GRCm39) |
T657A |
probably damaging |
Het |
Pcx |
A |
G |
19: 4,660,031 (GRCm39) |
K442R |
possibly damaging |
Het |
Pkd2 |
T |
C |
5: 104,614,750 (GRCm39) |
|
silent |
Het |
Plg |
T |
G |
17: 12,609,150 (GRCm39) |
C152G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,560,653 (GRCm39) |
L3016P |
probably damaging |
Het |
Sdccag8 |
T |
G |
1: 176,695,932 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,855,506 (GRCm39) |
M467K |
probably benign |
Het |
Sorl1 |
T |
G |
9: 41,946,744 (GRCm39) |
I856L |
probably damaging |
Het |
Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmprss11b |
T |
C |
5: 86,812,137 (GRCm39) |
N170S |
probably benign |
Het |
Tnfrsf1b |
G |
A |
4: 144,950,855 (GRCm39) |
Q253* |
probably null |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,727,987 (GRCm39) |
|
probably benign |
Het |
Vmn1r213 |
A |
C |
13: 23,195,593 (GRCm39) |
|
probably benign |
Het |
Vmn1r54 |
C |
A |
6: 90,246,864 (GRCm39) |
Y259* |
probably null |
Het |
Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
Vmn2r120 |
T |
C |
17: 57,816,477 (GRCm39) |
N626S |
probably damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,522,051 (GRCm39) |
F15S |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,520,768 (GRCm39) |
V400E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,401 (GRCm39) |
N514D |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,494 (GRCm39) |
H485Q |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACTTAGAGCGCATATTCAGC -3'
(R):5'- CCAAGATCTGTGTACAGTTTGC -3'
Sequencing Primer
(F):5'- CTTAGAGCGCATATTCAGCATGTG -3'
(R):5'- CAAGATCTGTGTACAGTTTGCTCATG -3'
|
Posted On |
2015-07-07 |