Incidental Mutation 'R0590:Plk5'
| ID |
55931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk5
|
| Ensembl Gene |
ENSMUSG00000035486 |
| Gene Name |
polo like kinase 5 |
| Synonyms |
6330514A18Rik |
| MMRRC Submission |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0590 (G1)
|
| Quality Score |
155 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80192293-80201323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80196057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 238
(R238H)
|
| 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: R242H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: R242H
| 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: R238H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: R238H
| 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 |
0.2994 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
| Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
| Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
| Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
|
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 |
|
|
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'- GCTGCGTTTCGCCATGTGTATC -3'
(R):5'- TGAATTACTCGCCTCGTTGCCG -3'
Sequencing Primer
(F):5'- CGCCATGTGTATCAAGAAAACTG -3'
(R):5'- CCTCTTTTGAGGTAAAGGGACC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation