Incidental Mutation 'R5680:Cdc20'
| ID |
442968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| MMRRC Submission |
043177-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118290098-118294540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118290264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 466
(T466A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006557]
[ENSMUST00000006565]
[ENSMUST00000067896]
[ENSMUST00000102673]
[ENSMUST00000167636]
|
| AlphaFold |
Q9JJ66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006557
|
| SMART Domains |
Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006565
AA Change: T466A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: T466A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
169 |
210 |
7.36e1 |
SMART |
|
WD40
|
215 |
254 |
3.64e-2 |
SMART |
|
WD40
|
257 |
294 |
9.6e-2 |
SMART |
|
WD40
|
298 |
337 |
1.62e-8 |
SMART |
|
WD40
|
344 |
386 |
8.29e-6 |
SMART |
|
WD40
|
389 |
429 |
2.21e1 |
SMART |
|
WD40
|
432 |
471 |
7.85e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067896
|
| SMART Domains |
Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
262 |
8.5e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102673
|
| SMART Domains |
Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
2 |
186 |
5.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167636
|
| SMART Domains |
Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene display embryonic lethality with cell cycle abnormalities. Mice heterozygous for a mutation in this gene display increased tumor incidence and increased incidence of aneuploidy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Atn1 |
A |
T |
6: 124,724,778 (GRCm39) |
S152T |
possibly damaging |
Het |
| Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
| Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,216,219 (GRCm39) |
R106G |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,677,013 (GRCm39) |
H79R |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
| Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
| Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
| Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
| Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
| Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
| Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
| Trim40 |
A |
T |
17: 37,199,874 (GRCm39) |
I68N |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
| Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
| Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly damaging |
Het |
|
| Other mutations in Cdc20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:Cdc20
|
APN |
4 |
118,292,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0022:Cdc20
|
UTSW |
4 |
118,292,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Cdc20
|
UTSW |
4 |
118,292,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Cdc20
|
UTSW |
4 |
118,294,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Cdc20
|
UTSW |
4 |
118,290,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Cdc20
|
UTSW |
4 |
118,290,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2242:Cdc20
|
UTSW |
4 |
118,290,722 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4237:Cdc20
|
UTSW |
4 |
118,290,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4238:Cdc20
|
UTSW |
4 |
118,290,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4629:Cdc20
|
UTSW |
4 |
118,290,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Cdc20
|
UTSW |
4 |
118,294,261 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4897:Cdc20
|
UTSW |
4 |
118,293,029 (GRCm39) |
missense |
probably benign |
|
|
R5279:Cdc20
|
UTSW |
4 |
118,290,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Cdc20
|
UTSW |
4 |
118,293,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5715:Cdc20
|
UTSW |
4 |
118,292,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Cdc20
|
UTSW |
4 |
118,290,239 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6323:Cdc20
|
UTSW |
4 |
118,292,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Cdc20
|
UTSW |
4 |
118,293,186 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8317:Cdc20
|
UTSW |
4 |
118,294,323 (GRCm39) |
unclassified |
probably benign |
|
|
R8548:Cdc20
|
UTSW |
4 |
118,293,535 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9028:Cdc20
|
UTSW |
4 |
118,293,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9601:Cdc20
|
UTSW |
4 |
118,290,716 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGTCAGAGTAGGGGAAGC -3'
(R):5'- TGAGCTCAAAGGTAGGTGGC -3'
Sequencing Primer
(F):5'- CATGTAGGAAGGATGCTGGGAC -3'
(R):5'- ACAGACTGATATGACTTGCCTGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation