Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Cdc45'

294759

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 #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18798729 bp (GRCm38)

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
1110038F14Rik	A	G	15: 76,950,378 (GRCm38)	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151 (GRCm38)	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239 (GRCm38)	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398 (GRCm38)	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105 (GRCm38)	D50G	probably damaging	Het
Chd6	A	C	2: 160,984,452 (GRCm38)		probably benign	Het
Col22a1	A	G	15: 71,827,753 (GRCm38)		probably benign	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708 (GRCm38)	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801 (GRCm38)	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883 (GRCm38)	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534 (GRCm38)	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840 (GRCm38)	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459 (GRCm38)		probably benign	Het
Hadhb	T	A	5: 30,184,063 (GRCm38)	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928 (GRCm38)		probably benign	Het
Inpp5j	T	C	11: 3,495,338 (GRCm38)		probably benign	Het
Ipo7	T	A	7: 110,040,853 (GRCm38)	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123 (GRCm38)	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730 (GRCm38)		probably benign	Het
Kmt2d	G	A	15: 98,850,077 (GRCm38)	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901 (GRCm38)	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746 (GRCm38)	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041 (GRCm38)	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749 (GRCm38)	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411 (GRCm38)	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849 (GRCm38)	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862 (GRCm38)	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844 (GRCm38)	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314 (GRCm38)	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736 (GRCm38)	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970 (GRCm38)		probably benign	Het
Siglec15	T	A	18: 78,043,617 (GRCm38)	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155 (GRCm38)	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142 (GRCm38)	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176 (GRCm38)		probably benign	Het
Tm6sf1	A	T	7: 81,875,824 (GRCm38)		probably benign	Het
Tmem245	T	C	4: 56,899,119 (GRCm38)	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976 (GRCm38)	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079 (GRCm38)		probably null	Het
Usp28	T	A	9: 49,037,769 (GRCm38)	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752 (GRCm38)	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969 (GRCm38)	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711 (GRCm38)	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het

Other mutations in Cdc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Cdc45	APN	16	18,811,561 (GRCm38)	missense	probably damaging	1.00
IGL01677:Cdc45	APN	16	18,787,000 (GRCm38)	missense	probably benign	0.02
IGL02079:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02080:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02105:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02106:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02237:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02238:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02239:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02371:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02441:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02442:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02465:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02466:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02468:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02469:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02470:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02471:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02473:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02489:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02490:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02491:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02492:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02511:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02558:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02559:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02560:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02561:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02562:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02566:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02567:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02576:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02583:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02589:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02626:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02627:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02628:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02629:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02687:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02688:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02689:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02720:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02724:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02731:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02738:Cdc45	APN	16	18,798,729 (GRCm38)	missense	probably benign	0.06
IGL02991:Cdc45	UTSW	16	18,798,729 (GRCm38)	missense	probably benign	0.06
R0051:Cdc45	UTSW	16	18,794,774 (GRCm38)	missense	probably damaging	1.00
R0051:Cdc45	UTSW	16	18,794,774 (GRCm38)	missense	probably damaging	1.00
R0458:Cdc45	UTSW	16	18,781,972 (GRCm38)	splice site	probably benign
R1398:Cdc45	UTSW	16	18,781,971 (GRCm38)	splice site	probably benign
R1413:Cdc45	UTSW	16	18,808,741 (GRCm38)	missense	possibly damaging	0.63
R1792:Cdc45	UTSW	16	18,807,340 (GRCm38)	missense	probably benign	0.01
R2919:Cdc45	UTSW	16	18,808,793 (GRCm38)	missense	probably benign	0.00
R3956:Cdc45	UTSW	16	18,805,430 (GRCm38)	missense	probably benign	0.00
R4079:Cdc45	UTSW	16	18,811,360 (GRCm38)	missense	probably damaging	1.00
R4825:Cdc45	UTSW	16	18,784,863 (GRCm38)	missense	probably damaging	0.98
R5028:Cdc45	UTSW	16	18,795,180 (GRCm38)	missense	probably benign	0.43
R5214:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5215:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5309:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5311:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5312:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5352:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5353:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5354:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5355:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5356:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5424:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5426:Cdc45	UTSW	16	18,795,897 (GRCm38)	missense	probably damaging	1.00
R5655:Cdc45	UTSW	16	18,807,279 (GRCm38)	critical splice donor site	probably null
R6174:Cdc45	UTSW	16	18,794,704 (GRCm38)	splice site	probably null
R6796:Cdc45	UTSW	16	18,784,857 (GRCm38)	missense	probably damaging	1.00
R7910:Cdc45	UTSW	16	18,810,453 (GRCm38)	missense	probably damaging	0.98
R8519:Cdc45	UTSW	16	18,808,847 (GRCm38)	missense	probably damaging	1.00
R8987:Cdc45	UTSW	16	18,811,550 (GRCm38)	missense	probably benign
R9221:Cdc45	UTSW	16	18,786,771 (GRCm38)	missense	probably benign	0.08

Posted On

2015-04-16