Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02558:Cdc45'

298372

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 #

IGL02558

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	C	5: 3,632,194 (GRCm39)	*25C	probably null	Het
Abca13	T	C	11: 9,349,387 (GRCm39)	Y3654H	probably damaging	Het
Ankle1	T	C	8: 71,861,636 (GRCm39)	F438S	probably damaging	Het
Atp10a	A	T	7: 58,469,390 (GRCm39)	R1080S	probably damaging	Het
Ccdc51	A	T	9: 108,921,252 (GRCm39)	N380Y	probably damaging	Het
Ccr8	A	T	9: 119,923,724 (GRCm39)	I280F	probably benign	Het
Cep162	T	C	9: 87,107,786 (GRCm39)	T535A	probably benign	Het
Cep162	G	T	9: 87,107,779 (GRCm39)	T537N	probably benign	Het
Cfap52	T	C	11: 67,844,964 (GRCm39)	D35G	probably benign	Het
Cmip	G	A	8: 118,175,827 (GRCm39)	S530N	probably damaging	Het
Col9a3	A	T	2: 180,248,599 (GRCm39)		probably null	Het
Csf3r	T	C	4: 125,931,928 (GRCm39)		probably benign	Het
Csk	C	T	9: 57,537,546 (GRCm39)	E123K	probably benign	Het
Csrnp3	G	A	2: 65,852,573 (GRCm39)	E322K	probably damaging	Het
Ddx11	A	T	17: 66,455,667 (GRCm39)	I663F	probably damaging	Het
Dnah1	T	A	14: 30,996,336 (GRCm39)	M2667L	possibly damaging	Het
Foxred1	T	C	9: 35,121,429 (GRCm39)	K40E	probably damaging	Het
Gata2	C	T	6: 88,176,762 (GRCm39)	P74S	probably benign	Het
Gdf10	T	G	14: 33,645,937 (GRCm39)	C29G	probably benign	Het
Hectd4	A	G	5: 121,482,848 (GRCm39)	E3133G	probably benign	Het
Ints8	G	A	4: 11,218,771 (GRCm39)	R784W	probably damaging	Het
Lrriq1	T	C	10: 102,982,144 (GRCm39)	E1392G	probably damaging	Het
Muc19	T	C	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myom2	A	T	8: 15,164,237 (GRCm39)	D1044V	probably benign	Het
Nphp4	G	T	4: 152,639,988 (GRCm39)	R958L	probably damaging	Het
Nup205	C	T	6: 35,166,859 (GRCm39)	P293S	probably damaging	Het
Or10ag60	T	C	2: 87,437,903 (GRCm39)	I57T	probably benign	Het
Or1e17	A	T	11: 73,831,651 (GRCm39)	H193L	probably benign	Het
Plxdc2	A	G	2: 16,674,409 (GRCm39)		probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Siglec1	G	T	2: 130,916,915 (GRCm39)	S1113R	possibly damaging	Het
Sirpa	A	G	2: 129,471,989 (GRCm39)	E472G	probably damaging	Het
Slc39a4	G	T	15: 76,498,403 (GRCm39)	L345M	probably damaging	Het
Snx27	C	T	3: 94,410,188 (GRCm39)	R496Q	probably damaging	Het
Stard9	A	G	2: 120,527,388 (GRCm39)	H1215R	possibly damaging	Het
Stau1	A	G	2: 166,792,768 (GRCm39)	Y371H	probably benign	Het
Sult2a1	A	C	7: 13,566,520 (GRCm39)	W152G	probably benign	Het
Syt16	A	T	12: 74,281,832 (GRCm39)	K319*	probably null	Het
Tcf7	T	A	11: 52,144,797 (GRCm39)		probably benign	Het
Tfdp1	A	G	8: 13,419,546 (GRCm39)	N92D	possibly damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	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
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
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