Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Mcm10'

31202

Institutional Source

Beutler Lab

Gene Symbol

Mcm10

Ensembl Gene

ENSMUSG00000026669

Gene Name

minichromosome maintenance 10 replication initiation factor

Synonyms

C330019M07Rik, 2410041F14Rik

MMRRC Submission

038591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4995535-5017602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5008965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 335 (K335E)

Ref Sequence

ENSEMBL: ENSMUSP00000100050 (fasta)

Gene Model

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

AlphaFold

Q0VBD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027980
AA Change: K335E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: K335E

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

possibly damaging
Transcript: ENSMUST00000102985
AA Change: K335E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: K335E

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

Coding Region Coverage

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
Atn1	G	T	6: 124,720,334 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dkk3	A	C	7: 111,757,430 (GRCm39)	M58R	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc1a3	C	T	15: 8,668,619 (GRCm39)	V449I	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slc25a25	T	A	2: 32,307,834 (GRCm39)	I254F	probably damaging	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Tpcn2	A	G	7: 144,830,911 (GRCm39)	Y145H	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	probably damaging	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
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
R4870:Mcm10	UTSW	2	5,008,970 (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'- AGTTCAAGCCTCACCTCTTTCAAGC -3'
(R):5'- TGTGACGGGTATAAATGACGGTGC -3'

Sequencing Primer
(F):5'- CAAGCCATCTTTGGGCTTC -3'
(R):5'- GCCAGGCTACCTGCTAAGTTAC -3'

Posted On

2013-04-24