Incidental Mutation 'R4501:Plk5'
| ID |
331819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk5
|
| Ensembl Gene |
ENSMUSG00000035486 |
| Gene Name |
polo like kinase 5 |
| Synonyms |
6330514A18Rik |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80192293-80201323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80195305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 208
(C208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039836]
[ENSMUST00000105351]
|
| AlphaFold |
Q4FZD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039836
AA Change: C208R
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: C208R
| 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 benign
Transcript: ENSMUST00000105351
AA Change: C204R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: C204R
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
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 |
|
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 |
|
R5346:Plk5
|
UTSW |
10 |
80,198,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
PCR Primer
(F):5'- CTTCCTTAACAAGAACATGGAGG -3'
(R):5'- GATCTCCGTGTGTGCACATC -3'
Sequencing Primer
(F):5'- TCCTTAACAAGAACATGGAGGTTAAG -3'
(R):5'- CGTGTGTGCACATCTGTCCATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation