Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02489:Cdc45'

295549

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 #

IGL02489

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,847 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,480,746 (GRCm39)	T430A	possibly damaging	Het
Ankrd6	T	C	4: 32,810,298 (GRCm39)	D426G	probably damaging	Het
Arhgef37	A	G	18: 61,639,540 (GRCm39)	S280P	possibly damaging	Het
Bicd1	T	C	6: 149,414,535 (GRCm39)	L416P	probably damaging	Het
Cenpp	T	C	13: 49,803,594 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,431,971 (GRCm39)		probably null	Het
Ctsa	A	G	2: 164,680,565 (GRCm39)	Y402C	probably damaging	Het
Dnah7a	A	G	1: 53,686,481 (GRCm39)	V223A	possibly damaging	Het
Dnajb3	G	T	1: 88,133,032 (GRCm39)	N123K	probably benign	Het
Fhad1	G	T	4: 141,684,931 (GRCm39)	N469K	probably damaging	Het
Fmo3	G	T	1: 162,781,856 (GRCm39)	T499K	possibly damaging	Het
Gm10100	G	A	10: 77,562,645 (GRCm39)	C109Y	probably benign	Het
Lrrc27	G	T	7: 138,805,977 (GRCm39)	R214L	probably benign	Het
Mc5r	T	A	18: 68,472,597 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	C	5: 63,962,570 (GRCm39)	Y718S	probably damaging	Het
Or8h7	T	G	2: 86,721,339 (GRCm39)	Y60S	probably damaging	Het
Ppa1	T	A	10: 61,501,223 (GRCm39)	D163E	probably damaging	Het
Ptprk	G	T	10: 28,259,468 (GRCm39)	G303W	probably damaging	Het
Rnf182	T	C	13: 43,821,779 (GRCm39)	L110P	probably damaging	Het
Slc12a2	T	C	18: 58,045,074 (GRCm39)	F659S	probably damaging	Het
Slc5a3	T	A	16: 91,874,593 (GRCm39)	Y217N	possibly damaging	Het
Ttc41	G	T	10: 86,596,778 (GRCm39)	E1008*	probably null	Het
Unc80	T	C	1: 66,564,860 (GRCm39)	M849T	probably benign	Het
Vmn2r76	A	T	7: 85,878,071 (GRCm39)	I442N	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
IGL02465: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
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