Incidental Mutation 'R6391:Plk4'
ID |
515755 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plk4
|
Ensembl Gene |
ENSMUSG00000025758 |
Gene Name |
polo like kinase 4 |
Synonyms |
Stk18, Sak |
MMRRC Submission |
044540-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6391 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40754463-40771318 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40763408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 526
(H526Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026858]
[ENSMUST00000167556]
[ENSMUST00000203295]
[ENSMUST00000203895]
[ENSMUST00000204032]
[ENSMUST00000204473]
|
AlphaFold |
Q64702 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026858
AA Change: H526Q
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000026858 Gene: ENSMUSG00000025758 AA Change: H526Q
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: H523Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126945 Gene: ENSMUSG00000025758 AA Change: H523Q
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: H526Q
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000145277 Gene: ENSMUSG00000025758 AA Change: H526Q
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 |
probably benign
Transcript: ENSMUST00000204032
|
SMART Domains |
Protein: ENSMUSP00000145201 Gene: ENSMUSG00000025758
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
Pfam:POLO_box
|
81 |
142 |
2.5e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204594
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (40/41) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
Map2k6 |
T |
C |
11: 110,381,703 (GRCm39) |
|
probably null |
Het |
Mylk2 |
T |
C |
2: 152,759,315 (GRCm39) |
L362P |
probably damaging |
Het |
Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
Or51a6 |
T |
A |
7: 102,604,622 (GRCm39) |
Y69F |
possibly damaging |
Het |
Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
Sh3bp2 |
G |
A |
5: 34,718,947 (GRCm39) |
V495I |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
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 |
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 |
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'- TCCAGATTTGCAGGACACG -3'
(R):5'- TCCAAGGCAGTCCTGGATTG -3'
Sequencing Primer
(F):5'- CCAGATTTGCAGGACACGTTACG -3'
(R):5'- GTCCTGGATTGCCTACTAAAAACTG -3'
|
Posted On |
2018-05-04 |