Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Mcm10'

376473

Institutional Source

Beutler Lab

Gene Symbol

Mcm10

Ensembl Gene

ENSMUSG00000026669

Gene Name

minichromosome maintenance 10 replication initiation factor

Synonyms

C330019M07Rik, 2410041F14Rik

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4995535-5017602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5008970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 333 (I333N)

Ref Sequence

ENSEMBL: ENSMUSP00000100050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027980] [ENSMUST00000102985]

AlphaFold

Q0VBD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027980
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: I333N

Domain	Start	End	E-Value	Type
coiled coil region	102	138	N/A	INTRINSIC
low complexity region	218	228	N/A	INTRINSIC
Pfam:zf-primase	398	443	2e-21	PFAM
low complexity region	480	493	N/A	INTRINSIC
Mcm10	538	883	2.27e-184	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102985
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: I333N

Domain	Start	End	E-Value	Type
coiled coil region	102	138	N/A	INTRINSIC
low complexity region	218	228	N/A	INTRINSIC
Pfam:zf-primase	398	443	3.7e-21	PFAM
low complexity region	480	493	N/A	INTRINSIC
Mcm10	538	883	2.27e-184	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150091

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryonic cell proliferation and early embryonic letahlity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Mcm10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Mcm10	APN	2	5,013,439 (GRCm39)	missense	probably benign	0.00
IGL02028:Mcm10	APN	2	5,013,511 (GRCm39)	missense	possibly damaging	0.95
IGL02672:Mcm10	APN	2	5,006,092 (GRCm39)	missense	probably benign	0.00
IGL03352:Mcm10	APN	2	4,999,407 (GRCm39)	missense	probably damaging	1.00
R0055:Mcm10	UTSW	2	4,996,218 (GRCm39)	missense	probably damaging	1.00
R0055:Mcm10	UTSW	2	4,996,218 (GRCm39)	missense	probably damaging	1.00
R0320:Mcm10	UTSW	2	5,008,897 (GRCm39)	missense	probably benign
R0379:Mcm10	UTSW	2	5,013,434 (GRCm39)	missense	probably benign	0.05
R0385:Mcm10	UTSW	2	5,008,965 (GRCm39)	missense	possibly damaging	0.82
R0519:Mcm10	UTSW	2	5,013,356 (GRCm39)	missense	probably benign
R1537:Mcm10	UTSW	2	5,003,591 (GRCm39)	missense	possibly damaging	0.77
R1597:Mcm10	UTSW	2	5,003,563 (GRCm39)	missense	probably damaging	1.00
R1727:Mcm10	UTSW	2	5,011,336 (GRCm39)	missense	probably benign	0.10
R1758:Mcm10	UTSW	2	5,008,861 (GRCm39)	missense	probably damaging	1.00
R1997:Mcm10	UTSW	2	4,998,571 (GRCm39)	missense	probably damaging	1.00
R3618:Mcm10	UTSW	2	5,001,913 (GRCm39)	critical splice donor site	probably null
R4005:Mcm10	UTSW	2	5,005,814 (GRCm39)	missense	probably damaging	1.00
R5302:Mcm10	UTSW	2	5,012,181 (GRCm39)	missense	probably benign	0.12
R5488:Mcm10	UTSW	2	4,996,929 (GRCm39)	missense	probably damaging	1.00
R6921:Mcm10	UTSW	2	5,005,746 (GRCm39)	missense	probably benign	0.00
R7259:Mcm10	UTSW	2	5,011,328 (GRCm39)	missense	probably benign	0.02
R7353:Mcm10	UTSW	2	5,011,920 (GRCm39)	missense	possibly damaging	0.54
R7489:Mcm10	UTSW	2	5,006,112 (GRCm39)	missense	probably damaging	1.00
R7744:Mcm10	UTSW	2	4,996,253 (GRCm39)	missense	probably damaging	1.00
R7903:Mcm10	UTSW	2	5,000,613 (GRCm39)	missense	probably benign	0.00
R9021:Mcm10	UTSW	2	4,997,782 (GRCm39)	missense	probably benign	0.03
R9072:Mcm10	UTSW	2	5,013,414 (GRCm39)	missense	possibly damaging	0.63
R9073:Mcm10	UTSW	2	5,013,414 (GRCm39)	missense	possibly damaging	0.63
R9135:Mcm10	UTSW	2	5,011,372 (GRCm39)	missense	probably benign	0.01
X0020:Mcm10	UTSW	2	5,011,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGTTCAAGCCTCACCTC -3'
(R):5'- ACTAAATTTCCCTGTGGCCTG -3'

Sequencing Primer
(F):5'- GAGTTCAAGCCTCACCTCTTTCAAG -3'
(R):5'- TCTGTTCATCTTACATGAGGCAG -3'

Posted On

2016-03-17