Incidental Mutation 'R4238:Cdc20'
| ID |
321201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| MMRRC Submission |
041055-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118290098-118294540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118290257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 468
(R468Q)
|
| 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: R468Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: R468Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
| Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
| Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
| Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
| Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
| Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
| Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
probably 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 |
|
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 |
|
R5680:Cdc20
|
UTSW |
4 |
118,290,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCAAGTCTAGCTCTAGTCAG -3'
(R):5'- TGAGCTCAAAGGTAGGTGGC -3'
Sequencing Primer
(F):5'- CTCTAGTCAGAGTAGGGGAAGC -3'
(R):5'- ACAGACTGATATGACTTGCCTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation