Mutagenetix > Incidental Mutations

Incidental Mutation 'R8987:Cdc45'

684163

Institutional Source

Beutler Lab

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18811550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 6 (F6L)

Ref Sequence

ENSEMBL: ENSMUSP00000000028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000005394] [ENSMUST00000096990] [ENSMUST00000115578] [ENSMUST00000115585] [ENSMUST00000163695] [ENSMUST00000171789] [ENSMUST00000172013]

AlphaFold

Q9Z1X9

Predicted Effect

probably benign
Transcript: ENSMUST00000000028
AA Change: F6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: F6L

Domain	Start	End	E-Value	Type
Pfam:CDC45	19	564	1.6e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000005394

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	194	2.1e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096990
AA Change: F6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: F6L

Domain	Start	End	E-Value	Type
Pfam:CDC45	18	74	7.9e-24	PFAM
Pfam:CDC45	73	520	4.5e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115578

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	19	194	6.1e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115585
AA Change: F6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028
AA Change: F6L

Domain	Start	End	E-Value	Type
Pfam:CDC45	18	136	5.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163695

SMART Domains

Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	70	3.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171789

Predicted Effect

probably benign
Transcript: ENSMUST00000172013

SMART Domains

Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
PDB:2YUJ\|A	11	36	2e-12	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	C	T	11: 97,775,684	V59M	probably damaging	Het
1700069L16Rik	T	C	5: 113,692,752	K59R	unknown	Het
Abcb4	T	C	5: 8,927,931	V503A	probably benign	Het
Actn4	A	G	7: 28,896,973	V699A	probably benign	Het
Adam26a	T	A	8: 43,569,321	K377N	probably benign	Het
Adam6b	C	T	12: 113,491,128	R522C	probably damaging	Het
Ahi1	A	G	10: 20,963,784	Y198C	probably damaging	Het
Ankrd44	G	A	1: 54,661,190	Q720*	probably null	Het
Arhgap26	A	T	18: 39,357,599	M297L		Het
Arhgef11	C	T	3: 87,730,481	T1093I	probably damaging	Het
Arhgef25	C	A	10: 127,182,866	R609S	probably damaging	Het
Arhgef28	G	T	13: 98,053,964	H162Q	possibly damaging	Het
Atg4b	A	G	1: 93,778,359	E178G	possibly damaging	Het
Atxn1l	T	C	8: 109,732,485	T382A	probably benign	Het
Bdp1	A	G	13: 100,067,513	V667A	probably benign	Het
C6	T	C	15: 4,814,862	I922T		Het
Ccdc191	A	G	16: 43,931,347	T347A	probably benign	Het
Cd22	G	T	7: 30,877,747	P45H	probably damaging	Het
Cenpj	T	C	14: 56,526,926	E1343G	possibly damaging	Het
Chtf8	T	A	8: 106,886,103	N68I	probably benign	Het
Cldn8	C	T	16: 88,562,845	C64Y	probably damaging	Het
Cntnap2	G	T	6: 46,484,049	S673I	probably benign	Het
Cyp3a13	C	T	5: 137,911,587	R158K	probably benign	Het
Cyp3a57	A	T	5: 145,374,229		probably null	Het
Cyp3a57	G	T	5: 145,374,230		probably null	Het
D630045J12Rik	A	G	6: 38,196,963	I90T	probably benign	Het
Dmxl1	A	G	18: 49,893,852	D2009G		Het
Dnah1	C	T	14: 31,311,747	V290I	possibly damaging	Het
Doc2g	A	T	19: 4,004,511		probably null	Het
Dpysl2	C	T	14: 66,807,953	G457D	probably damaging	Het
Drc1	A	T	5: 30,364,095	Y700F	probably damaging	Het
Ehbp1	A	G	11: 22,053,531	Y1073H	probably damaging	Het
Epm2aip1	T	A	9: 111,271,968	M3K	probably benign	Het
Erich3	G	A	3: 154,709,703	R152Q		Het
Exoc5	C	T	14: 49,015,529	R609H	probably damaging	Het
Fam135b	T	A	15: 71,462,340	T1002S	probably benign	Het
Fanca	C	T	8: 123,297,799	E528K	probably damaging	Het
Fsd2	C	A	7: 81,560,018	M25I	probably benign	Het
Fyco1	T	C	9: 123,829,074	E679G	possibly damaging	Het
Gas6	T	A	8: 13,470,294	M465L	probably damaging	Het
Gfra3	A	G	18: 34,690,826	V365A	probably benign	Het
Gm10269	T	G	18: 20,682,924	K14Q	possibly damaging	Het
Gm21798	G	A	15: 64,817,907		probably null	Het
Gm5916	T	A	9: 36,120,990	R49S	probably benign	Het
Gpam	G	T	19: 55,083,795	T266N	possibly damaging	Het
Gtse1	A	G	15: 85,868,908	E408G	probably benign	Het
Hmgcll1	A	T	9: 76,130,310		probably null	Het
Hspa12a	T	A	19: 58,799,471	R640*	probably null	Het
Hspa9	T	C	18: 34,947,929	D233G	probably damaging	Het
Htt	T	G	5: 34,820,024	I751M	probably benign	Het
Hydin	T	A	8: 110,513,134	Y2015*	probably null	Het
Ift43	A	C	12: 86,161,501	M138L	probably benign	Het
Il11	C	T	7: 4,776,030	V93M	probably damaging	Het
Iws1	T	A	18: 32,093,592	F741L	possibly damaging	Het
Jmy	A	T	13: 93,452,889	I620N	probably damaging	Het
Kcnk15	A	G	2: 163,858,297	N152S	probably damaging	Het
Kif16b	C	T	2: 142,849,863		probably null	Het
Kirrel	C	T	3: 87,085,093	R555H	probably damaging	Het
Krt36	A	G	11: 100,103,546	V235A	possibly damaging	Het
Lca5	A	G	9: 83,401,743	S246P	probably damaging	Het
Maml1	T	C	11: 50,266,748	D200G	probably damaging	Het
Maml3	T	C	3: 51,690,447	R939G	probably damaging	Het
Mgam	A	T	6: 40,729,636	T74S	probably damaging	Het
Mib2	G	T	4: 155,660,894	D125E	probably benign	Het
Muc16	A	T	9: 18,551,685	L7407*	probably null	Het
Mycbp2	A	T	14: 103,208,796	N1865K	probably damaging	Het
Naip1	A	G	13: 100,426,926	L577S	probably damaging	Het
Nell1	A	T	7: 50,848,651	D652V	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Oas1h	T	A	5: 120,867,089	I200N	probably damaging	Het
Olfr753-ps1	A	G	17: 37,169,976	L122P	probably damaging	Het
Olfr753-ps1	A	T	17: 37,170,099	I81N	probably damaging	Het
Olfr968	A	T	9: 39,772,392	M136K	probably benign	Het
Otog	A	T	7: 46,287,454	Q1529L	probably benign	Het
Otop1	A	T	5: 38,299,727	I277F	probably damaging	Het
Pax5	G	A	4: 44,645,661	Q223*	probably null	Het
Pcdha9	T	A	18: 36,999,945	I689N	probably benign	Het
Pcsk6	A	T	7: 65,927,227	R138*	probably null	Het
Pitpnm3	A	T	11: 72,112,306	N59K	probably damaging	Het
Pla2g4d	G	A	2: 120,269,961	T630I	probably damaging	Het
Prss28	T	A	17: 25,309,421	L6H	probably damaging	Het
Pyroxd1	T	A	6: 142,356,525	V228E		Het
Ripk2	G	A	4: 16,123,699	T492M	possibly damaging	Het
Satb1	A	T	17: 51,805,353	C78S	probably damaging	Het
Scaf11	A	T	15: 96,418,676	C1002*	probably null	Het
Scarf2	A	C	16: 17,804,904	Q499P	probably damaging	Het
Selenbp1	T	A	3: 94,940,114	M244K	probably benign	Het
Sik2	T	C	9: 50,895,347	N921S	probably benign	Het
Slc25a1	A	T	16: 17,925,880	V290E	probably damaging	Het
Slc35b4	A	T	6: 34,160,507	D213E	probably benign	Het
Slc40a1	A	C	1: 45,911,335	M319R	probably damaging	Het
Slc8a1	A	T	17: 81,647,853	F585L	possibly damaging	Het
Slco3a1	T	A	7: 74,320,576	N428Y	possibly damaging	Het
Slfn2	G	A	11: 83,069,537	C114Y	probably damaging	Het
Smg5	T	C	3: 88,360,407		probably null	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Spata13	T	A	14: 60,756,447	L1116Q	possibly damaging	Het
Syne1	A	G	10: 5,227,579	V4965A	possibly damaging	Het
Tacc3	G	T	5: 33,668,825	V472F	possibly damaging	Het
Tacr3	T	A	3: 134,854,812	Y171N	probably damaging	Het
Tacr3	T	G	3: 134,854,957	L219R	probably damaging	Het
Tbx3	C	A	5: 119,680,821	A507E	possibly damaging	Het
Telo2	A	T	17: 25,105,428	D494E	probably damaging	Het
Tfip11	T	C	5: 112,337,055	F744S	possibly damaging	Het
Tgm3	A	C	2: 130,038,483	N403T	probably benign	Het
Thoc3	A	T	13: 54,467,895	S119T	possibly damaging	Het
Tmem176b	A	T	6: 48,835,596	I145N	probably damaging	Het
Trio	T	A	15: 27,732,687	Q3036L	probably benign	Het
Trpc4	T	C	3: 54,194,711	V10A	probably benign	Het
Trpm3	A	G	19: 22,918,760	Y987C	probably damaging	Het
Tspoap1	A	G	11: 87,763,568	K225E	probably damaging	Het
Txnrd3	A	T	6: 89,661,495	Q222L	possibly damaging	Het
Usp34	A	T	11: 23,464,267	M2756L		Het
Vmn2r81	C	T	10: 79,293,870	T865I	probably damaging	Het
Vnn1	A	G	10: 23,900,816	Y355C	probably damaging	Het
Wipf2	A	T	11: 98,892,266	S173C	probably damaging	Het
Wnt1	A	T	15: 98,791,743	H137L	probably damaging	Het
Xylt2	A	T	11: 94,670,452	C162S	probably damaging	Het
Zfp426	T	C	9: 20,476,448	E33G	probably damaging	Het
Zfp811	A	C	17: 32,798,827	C80G	possibly damaging	Het
Zfp931	T	C	2: 178,067,798	H265R	probably damaging	Het
Zfp931	G	A	2: 178,067,799	H265Y	probably damaging	Het

Other mutations in Cdc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Cdc45	APN	16	18811561	missense	probably damaging	1.00
IGL01677:Cdc45	APN	16	18787000	missense	probably benign	0.02
IGL02079:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02080:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02105:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02106:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02237:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02238:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02239:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02371:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02441:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02442:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02465:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02466:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02468:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02469:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02470:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02471:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02472:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02473:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02489:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02490:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02491:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02492:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02511:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02558:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02559:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02560:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02561:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02562:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02566:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02567:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02576:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02583:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02589:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02626:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02627:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02628:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02629:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02687:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02688:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02689:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02720:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02724:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02731:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02738:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02991:Cdc45	UTSW	16	18798729	missense	probably benign	0.06
R0051:Cdc45	UTSW	16	18794774	missense	probably damaging	1.00
R0051:Cdc45	UTSW	16	18794774	missense	probably damaging	1.00
R0458:Cdc45	UTSW	16	18781972	splice site	probably benign
R1398:Cdc45	UTSW	16	18781971	splice site	probably benign
R1413:Cdc45	UTSW	16	18808741	missense	possibly damaging	0.63
R1792:Cdc45	UTSW	16	18807340	missense	probably benign	0.01
R2919:Cdc45	UTSW	16	18808793	missense	probably benign	0.00
R3956:Cdc45	UTSW	16	18805430	missense	probably benign	0.00
R4079:Cdc45	UTSW	16	18811360	missense	probably damaging	1.00
R4825:Cdc45	UTSW	16	18784863	missense	probably damaging	0.98
R5028:Cdc45	UTSW	16	18795180	missense	probably benign	0.43
R5214:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5215:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5309:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5311:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5312:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5352:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5353:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5354:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5355:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5356:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5424:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5426:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5655:Cdc45	UTSW	16	18807279	critical splice donor site	probably null
R6174:Cdc45	UTSW	16	18794704	splice site	probably null
R6796:Cdc45	UTSW	16	18784857	missense	probably damaging	1.00
R7910:Cdc45	UTSW	16	18810453	missense	probably damaging	0.98
R8519:Cdc45	UTSW	16	18808847	missense	probably damaging	1.00
R9221:Cdc45	UTSW	16	18786771	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TTGCAAGCACACAAGGCATC -3'
(R):5'- GTCCCCAGTAGGAACCAATCAG -3'

Sequencing Primer
(F):5'- CCCTCTGTAGAAGCAAACGTGG -3'
(R):5'- CCCAGTAGGAACCAATCAGAAAGG -3'

Posted On

2021-10-11