Mutagenetix > Incidental Mutation

Incidental Mutation 'R2242:Cdc20'

240691

Institutional Source

Beutler Lab

Gene Symbol

Cdc20

Ensembl Gene

ENSMUSG00000006398

Gene Name

cell division cycle 20

Synonyms

2310042N09Rik, p55CDC

MMRRC Submission

040242-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118290098-118294540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118290722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 426 (V426A)

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 benign
Transcript: ENSMUST00000006565
AA Change: V426A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: V426A

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,837,460 (GRCm39)	S630T	probably benign	Het
Afap1l2	T	C	19: 56,902,900 (GRCm39)	I760V	possibly damaging	Het
Clca3a2	T	C	3: 144,796,551 (GRCm39)	S219G	probably damaging	Het
Corin	A	T	5: 72,490,054 (GRCm39)	D603E	probably damaging	Het
Dctn1	A	G	6: 83,176,687 (GRCm39)	Y1205C	probably damaging	Het
Dync2h1	A	T	9: 7,037,828 (GRCm39)		probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Fes	T	G	7: 80,031,473 (GRCm39)	E467A	probably damaging	Het
Ftsj3	T	A	11: 106,141,604 (GRCm39)	Q548L	probably benign	Het
Gpc6	A	T	14: 117,424,199 (GRCm39)	T96S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lama4	G	A	10: 38,902,689 (GRCm39)	C221Y	probably damaging	Het
Malrd1	T	C	2: 16,106,755 (GRCm39)	C1856R	unknown	Het
Mfsd6	G	T	1: 52,748,757 (GRCm39)	P36Q	probably benign	Het
Ofcc1	A	G	13: 40,296,263 (GRCm39)	S524P	probably benign	Het
Or13c3	A	G	4: 52,855,769 (GRCm39)	V248A	probably damaging	Het
Or2n1b	A	G	17: 38,459,613 (GRCm39)	I45V	possibly damaging	Het
Ripor2	A	G	13: 24,855,755 (GRCm39)	E65G	probably benign	Het
Sardh	A	T	2: 27,125,527 (GRCm39)	V329E	possibly damaging	Het
Slc37a3	A	G	6: 39,315,739 (GRCm39)	S446P	probably benign	Het
Vmn2r57	T	C	7: 41,077,498 (GRCm39)	T223A	probably benign	Het
Wdr47	A	G	3: 108,526,431 (GRCm39)	D318G	probably damaging	Het
Zic4	C	T	9: 91,260,706 (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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTCCCTCTAACTTTGACAG -3'
(R):5'- ATCTGTAGTGCCTGACAGGGTG -3'

Sequencing Primer
(F):5'- CTTTGACAGTCACCTTGAAATGC -3'
(R):5'- GGTGTCTAATACTAGAATGGACTGAC -3'

Posted On

2014-10-15