Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Cdc23'

617986

Institutional Source

Beutler Lab

Gene Symbol

Cdc23

Ensembl Gene

ENSMUSG00000024370

Gene Name

CDC23 cell division cycle 23

Synonyms

D18Ertd243e

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34764004-34784788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34784741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 7 (V7A)

Ref Sequence

ENSEMBL: ENSMUSP00000122420 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000025228
AA Change: V7A

SMART Domains

Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370
AA Change: V7A

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

unknown
Transcript: ENSMUST00000133181
AA Change: V7A

SMART Domains

Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370
AA Change: V7A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Il17rc	A	G	6: 113,459,782 (GRCm39)	D576G	probably damaging	Het
Inhba	T	A	13: 16,200,860 (GRCm39)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnk13	A	G	12: 99,932,438 (GRCm39)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or5k14	T	C	16: 58,693,054 (GRCm39)	N153S	probably benign	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 99,921,625 (GRCm39)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	probably benign	Het

Other mutations in Cdc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cdc23	APN	18	34,769,385 (GRCm39)	missense	probably benign	0.01
IGL01302:Cdc23	APN	18	34,767,697 (GRCm39)	missense	probably benign	0.19
IGL01859:Cdc23	APN	18	34,784,459 (GRCm39)	missense	probably benign	0.01
IGL02307:Cdc23	APN	18	34,774,442 (GRCm39)	missense	possibly damaging	0.71
IGL03081:Cdc23	APN	18	34,769,757 (GRCm39)	missense	probably damaging	1.00
IGL03086:Cdc23	APN	18	34,770,239 (GRCm39)	unclassified	probably benign
IGL03089:Cdc23	APN	18	34,767,513 (GRCm39)	missense	probably damaging	1.00
IGL03249:Cdc23	APN	18	34,777,069 (GRCm39)	splice site	probably benign
R0217:Cdc23	UTSW	18	34,784,718 (GRCm39)	missense	unknown
R0790:Cdc23	UTSW	18	34,784,666 (GRCm39)	missense	possibly damaging	0.94
R1593:Cdc23	UTSW	18	34,769,379 (GRCm39)	missense	possibly damaging	0.88
R2929:Cdc23	UTSW	18	34,770,371 (GRCm39)	frame shift	probably null
R2930:Cdc23	UTSW	18	34,770,371 (GRCm39)	frame shift	probably null
R3963:Cdc23	UTSW	18	34,779,972 (GRCm39)	missense	probably benign	0.01
R3983:Cdc23	UTSW	18	34,770,539 (GRCm39)	unclassified	probably benign
R4245:Cdc23	UTSW	18	34,770,100 (GRCm39)	unclassified	probably benign
R4415:Cdc23	UTSW	18	34,770,371 (GRCm39)	frame shift	probably null
R4417:Cdc23	UTSW	18	34,770,371 (GRCm39)	frame shift	probably null
R4992:Cdc23	UTSW	18	34,779,972 (GRCm39)	missense	probably benign
R5037:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5071:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5072:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5073:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5074:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5081:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5082:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5083:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5110:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5111:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5122:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5131:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5132:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R5166:Cdc23	UTSW	18	34,784,742 (GRCm39)	missense	unknown
R7186:Cdc23	UTSW	18	34,770,175 (GRCm39)	missense	probably damaging	1.00
R7359:Cdc23	UTSW	18	34,774,394 (GRCm39)	missense	probably benign	0.40
R7732:Cdc23	UTSW	18	34,769,755 (GRCm39)	critical splice donor site	probably null
R7832:Cdc23	UTSW	18	34,780,072 (GRCm39)	missense	probably benign	0.11
R8185:Cdc23	UTSW	18	34,774,197 (GRCm39)	missense	probably benign	0.00
R8345:Cdc23	UTSW	18	34,767,150 (GRCm39)	missense	probably benign	0.17
R8716:Cdc23	UTSW	18	34,784,735 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAACGGTGCCCTTACCTC -3'
(R):5'- TTGCCAATCAGGATCTAACTGTC -3'

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

Posted On

2020-01-23