Incidental Mutation 'R0022:Cdc20'
| ID |
15231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118290098-118294540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118292686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 354
(H354L)
|
| 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: H354L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: H354L
| 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: 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 |
0.9612 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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 |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2012-12-12 |
Incidental Mutation