Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Cdc45'

299184

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 #

IGL02576

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,032,678 (GRCm39)	I232M	probably benign	Het
Ace	G	A	11: 105,864,937 (GRCm39)	V537M	probably damaging	Het
Alg1	A	G	16: 5,062,393 (GRCm39)	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,271,133 (GRCm39)	S46N	probably benign	Het
Cfap65	A	G	1: 74,942,617 (GRCm39)	S1646P	probably damaging	Het
Cimap2	T	C	4: 106,448,825 (GRCm39)	D411G	possibly damaging	Het
Col20a1	C	T	2: 180,655,198 (GRCm39)	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 25,040,853 (GRCm39)	T92P	possibly damaging	Het
Drc3	T	C	11: 60,261,377 (GRCm39)	M176T	probably benign	Het
Esyt3	T	C	9: 99,197,278 (GRCm39)	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,321 (GRCm39)	V496A	probably benign	Het
Fut4	T	A	9: 14,662,701 (GRCm39)	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,896,224 (GRCm39)	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,371,178 (GRCm39)		probably benign	Het
Hspa12a	A	C	19: 58,787,842 (GRCm39)	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,856,804 (GRCm39)	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,967,650 (GRCm39)	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,187,781 (GRCm39)	I158V	probably benign	Het
Itgae	A	G	11: 73,009,331 (GRCm39)	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,704,465 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,743,912 (GRCm39)	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,762,001 (GRCm39)	S450P	unknown	Het
Lhfpl2	G	A	13: 94,310,734 (GRCm39)	M1I	probably null	Het
Lig4	A	G	8: 10,021,116 (GRCm39)	I888T	probably damaging	Het
Msh4	G	A	3: 153,573,383 (GRCm39)	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,370,781 (GRCm39)	A3238V	probably benign	Het
Myo15b	A	G	11: 115,780,879 (GRCm39)	S1246G	probably null	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pecam1	G	A	11: 106,562,600 (GRCm39)	T599M	probably damaging	Het
Phf3	G	A	1: 30,869,117 (GRCm39)	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,794,560 (GRCm39)	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,736,801 (GRCm39)	M613T	possibly damaging	Het
Prim2	A	T	1: 33,523,798 (GRCm39)	I371N	probably damaging	Het
Ptprs	T	C	17: 56,721,958 (GRCm39)	D1316G	probably damaging	Het
Rnf19b	C	T	4: 128,967,315 (GRCm39)	R285*	probably null	Het
Secisbp2	A	G	13: 51,824,894 (GRCm39)	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,288,652 (GRCm39)	I586T	probably damaging	Het
Spef1	T	C	2: 131,016,562 (GRCm39)	H11R	possibly damaging	Het
Taar4	T	C	10: 23,836,909 (GRCm39)	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,824,703 (GRCm39)	F200S	possibly damaging	Het
Tex16	T	A	X: 111,028,653 (GRCm39)	L384Q	probably benign	Het
Tox2	A	G	2: 163,118,100 (GRCm39)	Q168R	probably damaging	Het
Trim5	T	A	7: 103,927,624 (GRCm39)	E172V	probably damaging	Het
Txndc11	G	A	16: 10,892,881 (GRCm39)		probably benign	Het
Vmn1r232	T	A	17: 21,134,175 (GRCm39)	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,485,472 (GRCm39)	H269L	probably benign	Het
Znrf4	T	C	17: 56,819,199 (GRCm39)	D36G	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
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
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