Incidental Mutation 'R4237:Cdc20'
| ID |
321156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| MMRRC Submission |
041054-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4237 (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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| 6820408C15Rik |
C |
T |
2: 152,270,873 (GRCm39) |
T32I |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
| Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Galnt11 |
G |
A |
5: 25,470,258 (GRCm39) |
R569Q |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
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 |
| L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
| Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
| Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,752 (GRCm39) |
N128S |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
| Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
| Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
Het |
| Zfp184 |
G |
A |
13: 22,142,948 (GRCm39) |
R218H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGTCAGAGTAGGGGAAGC -3'
(R):5'- TGGCTGAGCTCAAAGGTAGG -3'
Sequencing Primer
(F):5'- CATGTAGGAAGGATGCTGGGAC -3'
(R):5'- ACAGACTGATATGACTTGCCTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation