Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:Mcm10'

169567

Institutional Source

Beutler Lab

Gene Symbol

Mcm10

Ensembl Gene

ENSMUSG00000026669

Gene Name

minichromosome maintenance 10 replication initiation factor

Synonyms

C330019M07Rik, 2410041F14Rik

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4995535-5017602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5003591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 542 (T542I)

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: T542I

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: T542I

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: T542I

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: T542I

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: ENSMUST00000125349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151533

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Gnpat	A	G	8: 125,597,555 (GRCm39)	E39G	probably damaging	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Mn1	G	A	5: 111,602,646 (GRCm39)	A1295T	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
P2rx3	A	G	2: 84,853,825 (GRCm39)		probably null	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prr12	G	T	7: 44,678,366 (GRCm39)	A1954D	unknown	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tbata	G	T	10: 61,019,270 (GRCm39)		probably null	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	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
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'- CTTCAAGAGGGCTGATGCTGAGATG -3'
(R):5'- TCATGCATATTCCAGAAGTGGCACG -3'

Sequencing Primer
(F):5'- CTGAGATGGACTGGATGGC -3'
(R):5'- aacgactgctcttcctgac -3'

Posted On

2014-04-13