Incidental Mutation 'R8548:Cdc20'
| ID |
659733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| MMRRC Submission |
068513-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118290098-118294540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118293535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 160
(S160A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000006565
AA Change: S160A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: S160A
| 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 |
probably benign
Transcript: ENSMUST00000167636
|
| SMART Domains |
Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
| Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
| Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
| Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
| Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
| Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
| Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
| Ilkap |
G |
T |
1: 91,318,882 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
| Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
| Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
| Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
| Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
| Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
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 |
|
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 |
|
|
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'- TTCCAGAGCTCCAATCTACAAG -3'
(R):5'- CAGCGGCAAACCTCAGAATG -3'
Sequencing Primer
(F):5'- TCTACAAGATTCAGGTCTGCCAGG -3'
(R):5'- CTCAGAATGCCCCAGAAGGTAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation