Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Cdc20'

349015

Institutional Source

Beutler Lab

Gene Symbol

Cdc20

Ensembl Gene

ENSMUSG00000006398

Gene Name

cell division cycle 20

Synonyms

2310042N09Rik, p55CDC

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118290098-118294540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118290761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 413 (E413G)

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: E413G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: E413G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	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
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
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'- CACCATAGATGTGTGTCTGGGG -3'

Sequencing Primer
(F):5'- CCCAGGCAAGTCATATCAGTCTG -3'
(R):5'- CTGGGGGCTTCAGTGAGGAC -3'

Posted On

2015-10-08