Mutagenetix > Incidental Mutation

Incidental Mutation 'R7259:Mcm10'

564454

Institutional Source

Beutler Lab

Gene Symbol

Mcm10

Ensembl Gene

ENSMUSG00000026669

Gene Name

minichromosome maintenance 10 replication initiation factor

Synonyms

C330019M07Rik, 2410041F14Rik

MMRRC Submission

045351-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4995535-5017602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5011328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 214 (E214D)

Ref Sequence

ENSEMBL: ENSMUSP00000027980 (fasta)

Gene Model

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

AlphaFold

Q0VBD2

Predicted Effect

probably benign
Transcript: ENSMUST00000027980
AA Change: E214D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: E214D

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 benign
Transcript: ENSMUST00000102985
AA Change: E214D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: E214D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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
Adarb2	A	G	13: 8,620,288 (GRCm39)	Y258C	probably benign	Het
Aebp2	A	G	6: 140,579,494 (GRCm39)	S244G	probably benign	Het
Agl	A	T	3: 116,578,230 (GRCm39)	Y495N	probably damaging	Het
Arhgap33	A	G	7: 30,231,625 (GRCm39)	V120A	probably damaging	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atp2a2	A	G	5: 122,604,132 (GRCm39)	Y434H	probably benign	Het
Atrnl1	C	T	19: 57,924,038 (GRCm39)	R1268*	probably null	Het
AW554918	A	G	18: 25,422,906 (GRCm39)		probably null	Het
Canx	A	G	11: 50,192,643 (GRCm39)	W324R	probably damaging	Het
Col9a1	A	G	1: 24,224,424 (GRCm39)	E202G	unknown	Het
Crh	C	A	3: 19,748,418 (GRCm39)	A75S	possibly damaging	Het
Ctnnal1	T	A	4: 56,817,299 (GRCm39)		probably null	Het
Dmrta2	T	A	4: 109,839,104 (GRCm39)	S284T	possibly damaging	Het
Dock1	T	C	7: 134,384,477 (GRCm39)	V680A	probably damaging	Het
Duox2	G	A	2: 122,125,657 (GRCm39)	R317C	probably damaging	Het
Elmod2	A	G	8: 84,048,138 (GRCm39)	L108P	probably damaging	Het
Exoc6b	A	G	6: 84,825,792 (GRCm39)	S540P	probably benign	Het
Fsip2	C	T	2: 82,812,474 (GRCm39)	A2931V	possibly damaging	Het
Gipc2	A	T	3: 151,833,693 (GRCm39)	I196K	probably damaging	Het
Gli2	A	G	1: 118,764,264 (GRCm39)	S1296P	probably benign	Het
Gm21103	T	A	14: 17,482,882 (GRCm39)	Q173L	probably damaging	Het
Gpatch1	A	T	7: 34,986,546 (GRCm39)		probably null	Het
Grm8	G	A	6: 27,760,175 (GRCm39)	T385I	probably null	Het
Gtf2f1	C	A	17: 57,311,562 (GRCm39)	D283Y	probably damaging	Het
Hcar1	T	A	5: 124,017,275 (GRCm39)	T139S	possibly damaging	Het
Hcrtr1	T	A	4: 130,029,611 (GRCm39)	T157S	possibly damaging	Het
Htra2	T	G	6: 83,028,520 (GRCm39)	Q436P	possibly damaging	Het
Igkv1-133	A	G	6: 67,702,522 (GRCm39)	D80G	probably benign	Het
Il21	C	A	3: 37,281,803 (GRCm39)		probably null	Het
Inpp5f	T	A	7: 128,271,681 (GRCm39)	C359S	probably benign	Het
Itgb6	A	T	2: 60,480,355 (GRCm39)	I327N	probably damaging	Het
Itgbl1	A	T	14: 124,081,316 (GRCm39)	T232S	probably damaging	Het
Kif1a	T	A	1: 93,001,532 (GRCm39)	K266*	probably null	Het
Mefv	T	A	16: 3,530,917 (GRCm39)	I522F	probably damaging	Het
Naaladl2	T	A	3: 24,112,340 (GRCm39)	I581F	possibly damaging	Het
Naip6	A	T	13: 100,440,863 (GRCm39)	Y306N	probably damaging	Het
Opn1sw	T	A	6: 29,378,911 (GRCm39)	H247L	probably benign	Het
Or4c119	A	C	2: 88,986,854 (GRCm39)	F222V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,966 (GRCm39)	M67K	probably damaging	Het
Or5k1b	T	C	16: 58,580,868 (GRCm39)	T224A	possibly damaging	Het
Or6c68	T	A	10: 129,157,663 (GRCm39)	M57K	probably benign	Het
Pbxip1	C	A	3: 89,352,940 (GRCm39)	F195L	probably benign	Het
Pcdh12	A	T	18: 38,414,677 (GRCm39)	F816Y	probably benign	Het
Pi4k2b	C	A	5: 52,910,587 (GRCm39)	N290K	probably damaging	Het
Pias2	T	C	18: 77,240,416 (GRCm39)	S598P	possibly damaging	Het
Ppfia4	A	G	1: 134,240,838 (GRCm39)	V835A	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Scg2	T	C	1: 79,414,702 (GRCm39)	Y7C	probably benign	Het
Sec16a	A	G	2: 26,331,604 (GRCm39)	V137A	probably benign	Het
Setdb1	G	A	3: 95,247,224 (GRCm39)	T525I	probably benign	Het
Sgcg	A	T	14: 61,462,666 (GRCm39)	I227N	probably benign	Het
Slc35e4	A	T	11: 3,862,530 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Stk10	A	G	11: 32,548,497 (GRCm39)	N355S	probably benign	Het
Supt6	A	T	11: 78,098,442 (GRCm39)	D1716E	probably damaging	Het
Taok3	C	T	5: 117,390,608 (GRCm39)	A523V	probably benign	Het
Tekt3	A	G	11: 62,974,592 (GRCm39)	T304A	possibly damaging	Het
Ttc6	G	T	12: 57,622,970 (GRCm39)	R123L	probably benign	Het
Tyw1	T	A	5: 130,296,713 (GRCm39)		probably null	Het
Ulk2	A	G	11: 61,672,909 (GRCm39)	L895P	probably damaging	Het
Unc13c	A	T	9: 73,424,645 (GRCm39)	N1990K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wipf1	A	G	2: 73,265,425 (GRCm39)	S393P	probably damaging	Het
Yju2b	T	C	8: 84,986,946 (GRCm39)	S184G	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
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
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
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'- TACAGCTACTGACCTGAGGC -3'
(R):5'- CATGAGGCCTTAGACATCCAGC -3'

Sequencing Primer
(F):5'- TACTGACCTGAGGCGTAGG -3'
(R):5'- GAGGCCTTAGACATCCAGCATTTAG -3'

Posted On

2019-06-26