Incidental Mutation 'R5346:Plk5'
ID |
422621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plk5
|
Ensembl Gene |
ENSMUSG00000035486 |
Gene Name |
polo like kinase 5 |
Synonyms |
6330514A18Rik |
MMRRC Submission |
042925-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5346 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80192293-80201323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80198942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 433
(G433E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039836]
[ENSMUST00000105351]
|
AlphaFold |
Q4FZD7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039836
AA Change: G437E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044400 Gene: ENSMUSG00000035486 AA Change: G437E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
S_TKc
|
27 |
283 |
2.41e-90 |
SMART |
Pfam:POLO_box
|
425 |
486 |
4.9e-18 |
PFAM |
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105351
AA Change: G433E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100988 Gene: ENSMUSG00000035486 AA Change: G433E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
S_TKc
|
27 |
279 |
2.56e-94 |
SMART |
Pfam:POLO_box
|
420 |
483 |
1.6e-17 |
PFAM |
low complexity region
|
579 |
592 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152544
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
Cntfr |
G |
T |
4: 41,675,042 (GRCm39) |
Y21* |
probably null |
Het |
Cog2 |
T |
C |
8: 125,273,370 (GRCm39) |
S570P |
possibly damaging |
Het |
Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,036,700 (GRCm39) |
D235N |
possibly damaging |
Het |
Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
Nptn |
C |
A |
9: 58,531,070 (GRCm39) |
Y64* |
probably null |
Het |
Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
Pnliprp2 |
T |
A |
19: 58,748,232 (GRCm39) |
D4E |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
probably damaging |
Het |
|
Other mutations in Plk5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02136:Plk5
|
APN |
10 |
80,199,001 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02605:Plk5
|
APN |
10 |
80,198,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R0083:Plk5
|
UTSW |
10 |
80,192,496 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0590:Plk5
|
UTSW |
10 |
80,196,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0783:Plk5
|
UTSW |
10 |
80,196,964 (GRCm39) |
missense |
probably benign |
|
R1815:Plk5
|
UTSW |
10 |
80,199,855 (GRCm39) |
missense |
probably benign |
0.03 |
R1866:Plk5
|
UTSW |
10 |
80,196,403 (GRCm39) |
splice site |
probably null |
|
R1991:Plk5
|
UTSW |
10 |
80,198,936 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4501:Plk5
|
UTSW |
10 |
80,195,305 (GRCm39) |
missense |
probably benign |
0.05 |
R4580:Plk5
|
UTSW |
10 |
80,196,301 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4731:Plk5
|
UTSW |
10 |
80,194,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Plk5
|
UTSW |
10 |
80,195,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4802:Plk5
|
UTSW |
10 |
80,195,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5084:Plk5
|
UTSW |
10 |
80,194,723 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5702:Plk5
|
UTSW |
10 |
80,196,401 (GRCm39) |
critical splice donor site |
probably null |
|
R6417:Plk5
|
UTSW |
10 |
80,199,906 (GRCm39) |
missense |
probably benign |
0.07 |
R6548:Plk5
|
UTSW |
10 |
80,198,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6695:Plk5
|
UTSW |
10 |
80,196,035 (GRCm39) |
missense |
probably benign |
0.22 |
R7989:Plk5
|
UTSW |
10 |
80,199,899 (GRCm39) |
missense |
probably benign |
0.00 |
R8376:Plk5
|
UTSW |
10 |
80,196,179 (GRCm39) |
missense |
probably damaging |
0.97 |
R8746:Plk5
|
UTSW |
10 |
80,194,610 (GRCm39) |
missense |
probably benign |
0.03 |
R9025:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9027:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9063:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9087:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9089:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9090:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9091:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9270:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9271:Plk5
|
UTSW |
10 |
80,193,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9438:Plk5
|
UTSW |
10 |
80,193,867 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Plk5
|
UTSW |
10 |
80,200,135 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2016-08-04 |