Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02471:Cdc45'

294718

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 #

IGL02471

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,297,357 (GRCm39)	H2378N	probably benign	Het
Btaf1	C	A	19: 36,977,592 (GRCm39)	A1470E	probably damaging	Het
Ccdc110	A	G	8: 46,394,793 (GRCm39)	D228G	probably benign	Het
Cldn18	T	C	9: 99,578,128 (GRCm39)	D205G	probably benign	Het
Clip2	T	C	5: 134,546,876 (GRCm39)	T231A	probably benign	Het
Cltc	A	G	11: 86,608,860 (GRCm39)	V723A	probably damaging	Het
Cpa3	C	T	3: 20,282,971 (GRCm39)		probably null	Het
Cyfip2	T	G	11: 46,091,630 (GRCm39)	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,838,444 (GRCm39)	R667*	probably null	Het
Dock10	T	C	1: 80,493,339 (GRCm39)	E1878G	probably damaging	Het
Ermap	G	A	4: 119,037,160 (GRCm39)	H353Y	probably damaging	Het
Etfa	A	T	9: 55,393,984 (GRCm39)		probably null	Het
F5	C	T	1: 164,001,860 (GRCm39)	P188S	probably damaging	Het
Foxq1	G	A	13: 31,743,326 (GRCm39)	E143K	possibly damaging	Het
Gsr	C	T	8: 34,172,612 (GRCm39)		probably benign	Het
Hebp1	T	A	6: 135,132,274 (GRCm39)	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Lamb1	T	A	12: 31,370,907 (GRCm39)	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,652,408 (GRCm39)	V1154E	probably benign	Het
Manba	G	A	3: 135,212,769 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,503,955 (GRCm39)	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,560,726 (GRCm39)	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,279,721 (GRCm39)	E107G	probably benign	Het
Or11h6	A	T	14: 50,880,214 (GRCm39)	I159F	probably benign	Het
Or56b34	T	A	7: 104,938,252 (GRCm39)	F317L	probably benign	Het
Or9q2	G	A	19: 13,772,589 (GRCm39)	P129S	probably damaging	Het
Phldb1	T	C	9: 44,622,530 (GRCm39)	E41G	probably damaging	Het
Ptk2	T	C	15: 73,170,036 (GRCm39)	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,325,207 (GRCm39)	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,310,275 (GRCm39)	N224K	probably benign	Het
Rchy1	A	T	5: 92,105,405 (GRCm39)	C65*	probably null	Het
Rgs18	T	C	1: 144,650,359 (GRCm39)	D56G	probably benign	Het
Rtraf	A	C	14: 19,862,296 (GRCm39)	L197R	probably damaging	Het
Slc44a5	G	T	3: 153,962,213 (GRCm39)	W382L	probably damaging	Het
Snx24	C	T	18: 53,518,241 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,253,897 (GRCm39)	D1284G	probably damaging	Het
Tmem54	A	G	4: 129,002,111 (GRCm39)	M53V	probably benign	Het
Trip6	G	A	5: 137,308,618 (GRCm39)	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,753,751 (GRCm39)	Y122H	probably benign	Het
Wapl	T	A	14: 34,413,877 (GRCm39)	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,230,551 (GRCm39)	G293R	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp446	T	G	7: 12,716,181 (GRCm39)	V209G	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	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
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