Incidental Mutation 'R6417:Plk5'
| ID |
518120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk5
|
| Ensembl Gene |
ENSMUSG00000035486 |
| Gene Name |
polo like kinase 5 |
| Synonyms |
6330514A18Rik |
| MMRRC Submission |
044559-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6417 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80192293-80201323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80199906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 471
(V471A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039836]
[ENSMUST00000105351]
|
| AlphaFold |
Q4FZD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039836
AA Change: V475A
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: V475A
| 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: V471A
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: V471A
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Abra |
C |
T |
15: 41,729,452 (GRCm39) |
R316H |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,070 (GRCm39) |
T729S |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Eif2ak2 |
A |
C |
17: 79,164,048 (GRCm39) |
L439R |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,048,054 (GRCm39) |
D914G |
probably damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Srp54b |
T |
A |
12: 55,296,855 (GRCm39) |
F184L |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,846,056 (GRCm39) |
E220G |
probably damaging |
Het |
| Tfrc |
C |
T |
16: 32,449,057 (GRCm39) |
T732I |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,553,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
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 |
|
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 |
|
|
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'- GGGCTTAGTAAATCCTCCACC -3'
(R):5'- GTCAGCAATGAAGCTCAGCAG -3'
Sequencing Primer
(F):5'- AGTGGCCGTTTCCATGGAGAC -3'
(R):5'- TGAAGCTCAGCAGAGAGATGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation