Mutagenetix > Incidental Mutations

Incidental Mutation 'R5071:Cdc23'

388826

Institutional Source

Beutler Lab

Gene Symbol

Cdc23

Ensembl Gene

ENSMUSG00000024370

Gene Name

CDC23 cell division cycle 23

Synonyms

D18Ertd243e

MMRRC Submission

042661-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5071 (G1)

Quality Score

225

Status

Not 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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,787,358	W528R	probably damaging	Het
Agbl1	A	G	7: 76,421,917	E329G	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
AI182371	A	T	2: 35,085,215	I334N	probably benign	Het
Aldh1b1	A	G	4: 45,803,383		probably null	Het
Armc9	G	A	1: 86,186,116	M298I	probably benign	Het
Atp8a1	T	A	5: 67,815,723	K27N	probably benign	Het
BC004004	G	A	17: 29,294,415		probably null	Het
Ccdc83	A	T	7: 90,250,529	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,516,883	V199I	probably benign	Het
Cdh17	G	T	4: 11,810,325	G672V	probably damaging	Het
Cdh5	C	A	8: 104,140,702	T537K	probably damaging	Het
Chd1	T	A	17: 15,762,405	S1377R	probably benign	Het
Chd2	T	C	7: 73,429,689	N1821S	probably benign	Het
Cnot3	A	G	7: 3,650,861	K4R	probably damaging	Het
Colq	T	A	14: 31,528,832	I339F	possibly damaging	Het
Coq2	A	T	5: 100,667,950	L121Q	probably damaging	Het
Csnk1e	G	A	15: 79,420,872	R342*	probably null	Het
Cstl1	A	T	2: 148,750,927	M1L	probably benign	Het
Cwh43	A	G	5: 73,423,913		probably null	Het
Cyp2a22	A	T	7: 26,932,481	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,403,753	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,247,663	T123A	probably benign	Het
Dgkh	T	C	14: 78,604,532	K417E	probably damaging	Het
Dnah11	A	T	12: 118,082,453	L1750*	probably null	Het
Edn1	A	G	13: 42,303,677	E62G	probably damaging	Het
Eef1akmt1	A	G	14: 57,566,007	L30P	probably damaging	Het
Fbxo42	T	C	4: 141,198,945	W313R	probably damaging	Het
Fign	A	T	2: 63,979,693	L411*	probably null	Het
Fitm1	T	A	14: 55,575,773	V31E	possibly damaging	Het
Fryl	G	A	5: 73,074,767	P1550L	probably damaging	Het
Gabrd	A	C	4: 155,387,162	F228C	probably damaging	Het
Gm5916	A	C	9: 36,128,668	L8R	probably benign	Het
Gm9573	G	A	17: 35,620,552		probably benign	Het
Gpr108	A	G	17: 57,235,335	S557P	probably damaging	Het
Gpr75	C	A	11: 30,892,380	N428K	probably damaging	Het
H2-M5	T	G	17: 36,987,184		probably null	Het
Hdac6	A	G	X: 7,944,797	F104L	probably damaging	Homo
Homer3	T	C	8: 70,291,355	V243A	probably benign	Het
Hspg2	T	C	4: 137,540,230	S2050P	probably damaging	Het
Hydin	A	G	8: 110,538,473	N2763D	probably benign	Het
Ifi203	T	C	1: 173,935,110	Q152R	possibly damaging	Het
Ifi44	T	C	3: 151,749,632		probably benign	Het
Ifi47	A	G	11: 49,095,534	T43A	probably benign	Het
Ighv1-24	A	G	12: 114,773,128	Y51H	probably benign	Het
Inf2	A	T	12: 112,612,039		probably null	Het
Insl6	T	C	19: 29,325,255	R21G	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Ltbp3	T	C	19: 5,756,823	C1043R	probably damaging	Het
Mkl1	A	G	15: 81,022,426	V91A	probably damaging	Het
Mpeg1	T	A	19: 12,461,181	M1K	probably null	Het
Ncald	A	T	15: 37,397,234	H67Q	probably damaging	Het
Nek9	C	A	12: 85,327,459	R268L	possibly damaging	Het
Nudt5	T	A	2: 5,864,387	H141Q	probably benign	Het
Numbl	G	A	7: 27,280,990	D466N	probably damaging	Het
Olfr1100	A	T	2: 86,978,322	V158D	possibly damaging	Het
Olfr1186	T	C	2: 88,526,041	S153P	probably damaging	Het
Olfr167	A	G	16: 19,515,027	I203T	probably benign	Het
Olfr310	A	G	7: 86,269,591	I66T	probably damaging	Het
Olfr606	A	T	7: 103,451,410	E24D	probably benign	Het
Olfr668	A	C	7: 104,925,493	N90K	probably benign	Het
Olfr986	T	C	9: 40,187,664	L183S	probably damaging	Het
Pik3c2g	T	A	6: 139,720,147	C65S	probably null	Het
Plagl1	A	G	10: 13,127,261	Y91C	probably damaging	Het
Polr1a	A	G	6: 71,931,709	N506S	possibly damaging	Het
Pomt2	A	C	12: 87,133,460	C256G	probably damaging	Het
Psg29	T	A	7: 17,211,838	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,251,260	N573I	probably damaging	Het
Ptprf	C	A	4: 118,211,999	G1624W	probably damaging	Het
Rbm38	C	T	2: 173,022,082	P15S	probably benign	Het
Rc3h1	A	G	1: 160,959,477	D814G	possibly damaging	Het
Rnf40	T	C	7: 127,597,286	L802P	probably damaging	Het
Rusc2	A	G	4: 43,415,240	D182G	probably benign	Het
Setd1b	A	G	5: 123,160,914		probably benign	Het
Slc4a2	G	A	5: 24,438,762	S855N	probably benign	Het
Slc8a2	T	C	7: 16,150,583	L626P	possibly damaging	Het
Slirp	A	G	12: 87,444,014	T29A	probably damaging	Het
Smarcc2	A	G	10: 128,463,940	D158G	probably damaging	Het
Sptbn1	A	G	11: 30,113,854		probably null	Het
St3gal5	T	C	6: 72,132,053	C42R	probably damaging	Het
Syt7	T	C	19: 10,443,428	S397P	possibly damaging	Het
Tenm2	T	A	11: 36,068,381	T1114S	probably damaging	Het
Thada	T	A	17: 84,386,532	D1263V	probably damaging	Het
Tmco3	G	T	8: 13,292,860	E199*	probably null	Het
Tpcn1	A	T	5: 120,548,269		probably null	Het
Tppp2	G	A	14: 51,920,455	R119Q	probably benign	Het
Trim30d	A	C	7: 104,487,958	V13G	probably damaging	Het
Ubxn2b	A	T	4: 6,214,746	Q260L	probably damaging	Het
Ufl1	A	G	4: 25,254,780	Y559H	probably benign	Het
Usp5	A	G	6: 124,826,379	F7L	probably benign	Het
Utrn	A	T	10: 12,384,204		probably null	Het
Vmn1r28	A	T	6: 58,265,909	I246F	probably benign	Het
Vmn2r2	C	A	3: 64,116,900	M753I	probably benign	Het
Zbtb26	T	C	2: 37,435,929	H365R	probably benign	Het
Zfp976	A	T	7: 42,612,930	Y494*	probably null	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
R5072:Cdc23	UTSW	18	34651689	missense	unknown
R5073:Cdc23	UTSW	18	34651689	missense	unknown
R5074:Cdc23	UTSW	18	34651689	missense	unknown
R5081: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'- GCCAATCAGGATCTAACTGTCTC -3'

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

Posted On

2016-06-06