Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02465:Cdc45'

294546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02465

Quality Score

Status

Chromosome

Chromosomal Location

18599197-18630737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18617479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 200 (M200I)

Ref Sequence

ENSEMBL: ENSMUSP00000000028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000096990]

AlphaFold

Q9Z1X9

Predicted Effect

probably benign
Transcript: ENSMUST00000000028
AA Change: M200I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: M200I

Domain	Start	End	E-Value	Type
Pfam:CDC45	19	564	1.6e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096990
AA Change: M154I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: M154I

Domain	Start	End	E-Value	Type
Pfam:CDC45	18	74	7.9e-24	PFAM
Pfam:CDC45	73	520	4.5e-138	PFAM

Meta Mutation Damage Score

0.1154

Coding Region Coverage

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 was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,250,906 (GRCm39)	D555G	probably benign	Het
Anks1b	T	A	10: 89,999,127 (GRCm39)	C411*	probably null	Het
Atp5pf	A	T	16: 84,625,358 (GRCm39)	Y82N	probably damaging	Het
Cd19	A	T	7: 126,012,730 (GRCm39)	V221D	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,110 (GRCm39)		probably null	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Eya2	A	G	2: 165,557,872 (GRCm39)	D156G	possibly damaging	Het
Gm42763	T	C	9: 110,374,365 (GRCm39)		probably benign	Het
Gtdc1	T	C	2: 44,460,435 (GRCm39)	Y417C	probably damaging	Het
Map1b	T	C	13: 99,569,914 (GRCm39)	T936A	unknown	Het
Med23	G	A	10: 24,779,641 (GRCm39)	R906K	probably damaging	Het
Mill2	G	A	7: 18,592,168 (GRCm39)	W263*	probably null	Het
Mup20	T	C	4: 61,970,237 (GRCm39)	N107D	possibly damaging	Het
Neb	A	G	2: 52,083,177 (GRCm39)		probably benign	Het
Ntrk2	A	G	13: 59,208,194 (GRCm39)	N680S	probably damaging	Het
Or12d2	A	C	17: 37,624,802 (GRCm39)	S158A	probably damaging	Het
Or9a2	C	T	6: 41,748,490 (GRCm39)	V248I	probably damaging	Het
Pde3a	A	G	6: 141,195,401 (GRCm39)	H29R	possibly damaging	Het
Pik3c3	T	C	18: 30,477,113 (GRCm39)	I878T	probably damaging	Het
Plxnd1	A	G	6: 115,932,703 (GRCm39)	*1926R	probably null	Het
Prl8a9	T	A	13: 27,743,432 (GRCm39)	L124F	probably damaging	Het
Proser3	A	T	7: 30,242,958 (GRCm39)	N206K	possibly damaging	Het
Rasef	G	T	4: 73,652,725 (GRCm39)	T439N	probably damaging	Het
Slc6a18	T	C	13: 73,825,904 (GRCm39)	T49A	probably benign	Het
Spag17	A	C	3: 99,983,187 (GRCm39)	T1496P	probably damaging	Het
Vmn1r63	A	C	7: 5,806,038 (GRCm39)	V198G	probably damaging	Het
Vmn2r112	T	C	17: 22,833,975 (GRCm39)	S548P	probably damaging	Het
Vps13a	T	C	19: 16,688,305 (GRCm39)	D834G	probably benign	Het
Vps8	A	T	16: 21,340,653 (GRCm39)	N799I	probably damaging	Het
Zfhx4	A	G	3: 5,464,663 (GRCm39)	H1632R	possibly damaging	Het
Zp1	T	A	19: 10,897,851 (GRCm39)	E30V	probably benign	Het

Other mutations in Cdc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Cdc45	APN	16	18,630,311 (GRCm39)	missense	probably damaging	1.00
IGL01677:Cdc45	APN	16	18,605,750 (GRCm39)	missense	probably benign	0.02
IGL02079:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02080:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02105:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02106:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02237:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02238:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02239:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02371:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02441:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02442:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02466:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02468:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02469:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02470:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02471:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02472:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02473:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02489:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02490:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02491:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02492:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02511:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02558:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02559:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02560:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02561:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02562:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02566:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02567:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02576:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02583:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02589:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02626:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02627:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02628:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02629:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02687:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02688:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02689:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02720:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02724:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02731:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02738:Cdc45	APN	16	18,617,479 (GRCm39)	missense	probably benign	0.06
IGL02991:Cdc45	UTSW	16	18,617,479 (GRCm39)	missense	probably benign	0.06
R0051:Cdc45	UTSW	16	18,613,524 (GRCm39)	missense	probably damaging	1.00
R0051:Cdc45	UTSW	16	18,613,524 (GRCm39)	missense	probably damaging	1.00
R0458:Cdc45	UTSW	16	18,600,722 (GRCm39)	splice site	probably benign
R1398:Cdc45	UTSW	16	18,600,721 (GRCm39)	splice site	probably benign
R1413:Cdc45	UTSW	16	18,627,491 (GRCm39)	missense	possibly damaging	0.63
R1792:Cdc45	UTSW	16	18,626,090 (GRCm39)	missense	probably benign	0.01
R2919:Cdc45	UTSW	16	18,627,543 (GRCm39)	missense	probably benign	0.00
R3956:Cdc45	UTSW	16	18,624,180 (GRCm39)	missense	probably benign	0.00
R4079:Cdc45	UTSW	16	18,630,110 (GRCm39)	missense	probably damaging	1.00
R4825:Cdc45	UTSW	16	18,603,613 (GRCm39)	missense	probably damaging	0.98
R5028:Cdc45	UTSW	16	18,613,930 (GRCm39)	missense	probably benign	0.43
R5214:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5215:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5309:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5311:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5312:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5352:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5353:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5354:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5355:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5356:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5424:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5426:Cdc45	UTSW	16	18,614,647 (GRCm39)	missense	probably damaging	1.00
R5655:Cdc45	UTSW	16	18,626,029 (GRCm39)	critical splice donor site	probably null
R6174:Cdc45	UTSW	16	18,613,454 (GRCm39)	splice site	probably null
R6796:Cdc45	UTSW	16	18,603,607 (GRCm39)	missense	probably damaging	1.00
R7910:Cdc45	UTSW	16	18,629,203 (GRCm39)	missense	probably damaging	0.98
R8519:Cdc45	UTSW	16	18,627,597 (GRCm39)	missense	probably damaging	1.00
R8987:Cdc45	UTSW	16	18,630,300 (GRCm39)	missense	probably benign
R9221:Cdc45	UTSW	16	18,605,521 (GRCm39)	missense	probably benign	0.08

Posted On

2015-04-16