Incidental Mutation 'IGL02605:Plk5'
| ID |
300236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plk5
|
| Ensembl Gene |
ENSMUSG00000035486 |
| Gene Name |
polo like kinase 5 |
| Synonyms |
6330514A18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80192293-80201323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80198896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 422
(V422M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039836]
[ENSMUST00000105351]
|
| AlphaFold |
Q4FZD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039836
AA Change: V422M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: V422M
| 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: V418M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: V418M
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
| Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
| Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
| Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
| Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
| Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
| Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
| Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
| Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly 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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation