Mutagenetix > Incidental Mutations

Incidental Mutation 'R5081:Cdc23'

387157

Institutional Source

Beutler Lab

Gene Symbol

Cdc23

Ensembl Gene

ENSMUSG00000024370

Gene Name

CDC23 cell division cycle 23

Synonyms

D18Ertd243e

MMRRC Submission

042670-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34630951-34651735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34651689 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 7 (V7L)

Ref Sequence

ENSEMBL: ENSMUSP00000122420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025228] [ENSMUST00000133181]

Predicted Effect

unknown
Transcript: ENSMUST00000025228
AA Change: V7L

SMART Domains

Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370
AA Change: V7L

Domain	Start	End	E-Value	Type
Pfam:APC8	22	152	1.9e-42	PFAM
Blast:TPR	175	202	4e-10	BLAST
TPR	263	296	4.21e1	SMART
TPR	331	364	1.74e-4	SMART
TPR	365	398	1.83e-3	SMART
TPR	399	432	1.37e-2	SMART
TPR	433	466	8.97e0	SMART
TPR	510	543	1.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133162

Predicted Effect

unknown
Transcript: ENSMUST00000133181
AA Change: V7L

SMART Domains

Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370
AA Change: V7L

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:ANAPC8	28	151	6.9e-31	PFAM
Blast:TPR	175	202	4e-10	BLAST
TPR	263	296	4.21e1	SMART
TPR	331	364	1.74e-4	SMART
TPR	365	398	1.83e-3	SMART
TPR	399	432	1.37e-2	SMART
TPR	433	466	8.97e0	SMART
TPR	510	543	1.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151409

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

93% (65/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,677,814		probably benign	Het
Aig1	A	G	10: 13,801,900	I116T	probably benign	Het
Alox12	A	T	11: 70,255,314		probably null	Het
Ap3s1	T	A	18: 46,754,430	D43E	probably benign	Het
Arhgap35	A	G	7: 16,565,134	M2T	possibly damaging	Het
Asah2	T	A	19: 32,014,308	E451V	probably benign	Het
Ash1l	T	G	3: 88,984,717	I1301S	probably damaging	Het
Ass1	G	A	2: 31,488,653		probably null	Het
Ccpg1	A	G	9: 72,999,078	T39A	possibly damaging	Het
Cd101	T	A	3: 101,003,705	Y879F	possibly damaging	Het
Cdh23	T	C	10: 60,436,807	T530A	possibly damaging	Het
Cep68	G	T	11: 20,238,477	Q643K	probably damaging	Het
Ces1c	A	G	8: 93,127,569	S113P	probably damaging	Het
Cnga4	T	C	7: 105,407,025	I278T	probably benign	Het
Col1a1	A	G	11: 94,951,576	D1440G	unknown	Het
Cspp1	A	G	1: 10,047,466	I48V	possibly damaging	Het
Ctsj	T	A	13: 61,003,850	S85C	possibly damaging	Het
Cyp39a1	C	A	17: 43,746,597	D442E	probably damaging	Het
Dock3	A	T	9: 106,991,093	F664Y	probably damaging	Het
Gpcpd1	A	T	2: 132,547,702	H244Q	probably benign	Het
Gtf3a	T	A	5: 146,951,282	V131E	probably benign	Het
Gtpbp3	A	T	8: 71,490,382	R147W	probably damaging	Het
H2-Ke6	G	A	17: 34,027,578		probably benign	Het
H2-Oa	A	T	17: 34,094,370	I132F	probably damaging	Het
Idi1	T	A	13: 8,887,927	C91*	probably null	Het
Itga11	A	G	9: 62,755,196	I484V	probably benign	Het
Kpna3	C	T	14: 61,391,245	S101N	probably damaging	Het
Larp4	G	A	15: 99,973,017		probably benign	Het
Mink1	T	C	11: 70,605,144	L390P	probably damaging	Het
Morc1	T	G	16: 48,502,352	S337R	probably benign	Het
Myo10	A	G	15: 25,785,940	R1236G	probably damaging	Het
Nkx3-1	T	C	14: 69,191,947	I138T	possibly damaging	Het
Nnt	T	C	13: 119,366,400	N489S	probably damaging	Het
Nrcam	A	T	12: 44,570,353	I711F	probably benign	Het
Ntrk3	A	G	7: 78,577,774	S4P	probably damaging	Het
Obsl1	T	C	1: 75,487,963	T1605A	possibly damaging	Het
Olfr346	A	G	2: 36,688,643	I214V	possibly damaging	Het
Olfr851	A	G	9: 19,497,261	E171G	probably benign	Het
Pank1	T	C	19: 34,878,916	H54R	probably benign	Het
Pgm2l1	A	G	7: 100,268,265	I530V	probably benign	Het
Psmd2	A	G	16: 20,661,655	T709A	probably benign	Het
Qsox1	G	T	1: 155,812,835		probably benign	Het
Rbm14	A	G	19: 4,802,795	S520P	probably benign	Het
Rbm15b	G	A	9: 106,884,921	R683C	probably benign	Het
Rhbdd2	T	A	5: 135,636,022	V69D	probably damaging	Het
Sart1	T	C	19: 5,388,548	E27G	possibly damaging	Het
Scn4a	G	A	11: 106,348,727	P153L	probably damaging	Het
Serpinb6d	A	T	13: 33,671,247	R301S	probably benign	Het
Sf3a2	C	A	10: 80,804,441		probably benign	Het
Syne1	T	C	10: 5,047,767	D400G	probably benign	Het
Tenm2	T	C	11: 36,024,633	S2025G	possibly damaging	Het
Ttc16	A	T	2: 32,767,976	D476E	probably damaging	Het
Ttc9c	A	T	19: 8,816,032	C81*	probably null	Het
Ulk2	G	A	11: 61,803,662	P474L	probably damaging	Het
Vmn1r66	A	G	7: 10,274,795	C104R	probably damaging	Het
Vwa2	C	T	19: 56,909,320	H686Y	probably damaging	Het

Other mutations in Cdc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cdc23	APN	18	34636332	missense	probably benign	0.01
IGL01302:Cdc23	APN	18	34634644	missense	probably benign	0.19
IGL01859:Cdc23	APN	18	34651406	missense	probably benign	0.01
IGL02307:Cdc23	APN	18	34641389	missense	possibly damaging	0.71
IGL03081:Cdc23	APN	18	34636704	missense	probably damaging	1.00
IGL03086:Cdc23	APN	18	34637186	unclassified	probably benign
IGL03089:Cdc23	APN	18	34634460	missense	probably damaging	1.00
IGL03249:Cdc23	APN	18	34644016	splice site	probably benign
R0217:Cdc23	UTSW	18	34651665	missense	unknown
R0790:Cdc23	UTSW	18	34651613	missense	possibly damaging	0.94
R1593:Cdc23	UTSW	18	34636326	missense	possibly damaging	0.88
R2929:Cdc23	UTSW	18	34637318	frame shift	probably null
R2930:Cdc23	UTSW	18	34637318	frame shift	probably null
R3963:Cdc23	UTSW	18	34646919	missense	probably benign	0.01
R3983:Cdc23	UTSW	18	34637486	unclassified	probably benign
R4245:Cdc23	UTSW	18	34637047	unclassified	probably benign
R4415:Cdc23	UTSW	18	34637318	frame shift	probably null
R4417:Cdc23	UTSW	18	34637318	frame shift	probably null
R4992:Cdc23	UTSW	18	34646919	missense	probably benign
R5037:Cdc23	UTSW	18	34651689	missense	unknown
R5071:Cdc23	UTSW	18	34651689	missense	unknown
R5072:Cdc23	UTSW	18	34651689	missense	unknown
R5073:Cdc23	UTSW	18	34651689	missense	unknown
R5074:Cdc23	UTSW	18	34651689	missense	unknown
R5082:Cdc23	UTSW	18	34651689	missense	unknown
R5083:Cdc23	UTSW	18	34651689	missense	unknown
R5110:Cdc23	UTSW	18	34651689	missense	unknown
R5111:Cdc23	UTSW	18	34651689	missense	unknown
R5122:Cdc23	UTSW	18	34651689	missense	unknown
R5131:Cdc23	UTSW	18	34651689	missense	unknown
R5132:Cdc23	UTSW	18	34651689	missense	unknown
R5166:Cdc23	UTSW	18	34651689	missense	unknown
R7186:Cdc23	UTSW	18	34637122	missense	probably damaging	1.00
R7359:Cdc23	UTSW	18	34641341	missense	probably benign	0.40
R7732:Cdc23	UTSW	18	34636702	critical splice donor site	probably null
R7832:Cdc23	UTSW	18	34647019	missense	probably benign	0.11
R8031:Cdc23	UTSW	18	34651688	missense	unknown
R8185:Cdc23	UTSW	18	34641144	missense	probably benign	0.00
R8345:Cdc23	UTSW	18	34634097	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGCCCTTACCTCTGTCAGAG -3'
(R):5'- TGCCAATCAGGATCTAACTGTC -3'

Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'

Posted On

2016-06-06