Incidental Mutation 'IGL01101:Cdc20'
| ID |
50898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc20
|
| Ensembl Gene |
ENSMUSG00000006398 |
| Gene Name |
cell division cycle 20 |
| Synonyms |
2310042N09Rik, p55CDC |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118290098-118294540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118292749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 333
(V333A)
|
| 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: V333A
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: V333A
| 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 |
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,241,923 (GRCm39) |
D695V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,990,251 (GRCm39) |
|
probably benign |
Het |
| Akap4 |
T |
A |
X: 6,942,423 (GRCm39) |
M242K |
probably benign |
Het |
| Cd207 |
T |
C |
6: 83,652,839 (GRCm39) |
D97G |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,948 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
T |
A |
1: 139,481,322 (GRCm39) |
Y186F |
probably benign |
Het |
| Cnbd1 |
T |
A |
4: 18,907,098 (GRCm39) |
I159F |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,227,332 (GRCm39) |
M228R |
probably benign |
Het |
| Dach1 |
C |
A |
14: 98,077,640 (GRCm39) |
S581I |
possibly damaging |
Het |
| Dbnl |
A |
G |
11: 5,743,722 (GRCm39) |
D71G |
possibly damaging |
Het |
| F8 |
T |
A |
X: 74,330,993 (GRCm39) |
T966S |
possibly damaging |
Het |
| Filip1 |
T |
A |
9: 79,805,528 (GRCm39) |
L75F |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,736 (GRCm39) |
Y322C |
probably benign |
Het |
| Ftsj3 |
A |
G |
11: 106,146,458 (GRCm39) |
V7A |
probably benign |
Het |
| Gm8362 |
A |
T |
14: 18,145,196 (GRCm39) |
S204T |
probably benign |
Het |
| Ibtk |
C |
A |
9: 85,614,675 (GRCm39) |
|
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,964,600 (GRCm39) |
V267I |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,416 (GRCm39) |
D169E |
probably damaging |
Het |
| Or10ag53 |
C |
A |
2: 87,082,806 (GRCm39) |
T175K |
probably damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,191 (GRCm39) |
C85Y |
probably benign |
Het |
| Or4k1 |
A |
T |
14: 50,377,511 (GRCm39) |
M195K |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,010,131 (GRCm39) |
C296F |
probably damaging |
Het |
| Scart2 |
A |
T |
7: 139,876,017 (GRCm39) |
Q543L |
probably benign |
Het |
| Slc38a5 |
T |
C |
X: 8,137,750 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
G |
T |
8: 46,198,460 (GRCm39) |
R36L |
possibly damaging |
Het |
| Tmem207 |
A |
C |
16: 26,336,627 (GRCm39) |
Y42* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
|
| Other mutations in Cdc20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation