Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Mcm3'

175992

Institutional Source

Beutler Lab

Gene Symbol

Mcm3

Ensembl Gene

ENSMUSG00000041859

Gene Name

minichromosome maintenance complex component 3

Synonyms

p1.m, Mcmd, P1

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1599 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

20873192-20890536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20890422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 4 (T4I)

Ref Sequence

ENSEMBL: ENSMUSP00000059192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053266]

AlphaFold

P25206

Predicted Effect

probably benign
Transcript: ENSMUST00000053266
AA Change: T4I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: T4I

Domain	Start	End	E-Value	Type
MCM	109	654	N/A	SMART
AAA	337	490	1.92e-4	SMART
coiled coil region	655	693	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186367

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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 may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null or hypomorph alleles exhibit prenatal lethality. Fetal mice homozygous for a hypomorphic allele display anemia and replicative stress during fetal erythropoiesis. Mice heterozygous for null or hypomorph alleles display increased incidence of lymphomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,113,887 (GRCm39)	C410F	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Fam161a	A	T	11: 22,971,093 (GRCm39)	M180L	probably benign	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Kcna6	A	T	6: 126,716,282 (GRCm39)	D202E	probably benign	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,744,899 (GRCm39)	E10G	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Ttll1	A	G	15: 83,381,555 (GRCm39)	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	Het

Other mutations in Mcm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Mcm3	APN	1	20,875,039 (GRCm39)	critical splice donor site	probably null
IGL01061:Mcm3	APN	1	20,884,720 (GRCm39)	missense	possibly damaging	0.86
IGL01488:Mcm3	APN	1	20,883,280 (GRCm39)	missense	possibly damaging	0.90
IGL01609:Mcm3	APN	1	20,884,904 (GRCm39)	splice site	probably benign
IGL02483:Mcm3	APN	1	20,873,796 (GRCm39)	missense	possibly damaging	0.68
IGL02869:Mcm3	APN	1	20,879,063 (GRCm39)	missense	probably damaging	0.99
R0197:Mcm3	UTSW	1	20,880,329 (GRCm39)	missense	probably damaging	1.00
R0462:Mcm3	UTSW	1	20,875,556 (GRCm39)	missense	probably benign
R0467:Mcm3	UTSW	1	20,875,071 (GRCm39)	missense	probably benign
R0669:Mcm3	UTSW	1	20,875,153 (GRCm39)	splice site	probably null
R1251:Mcm3	UTSW	1	20,882,896 (GRCm39)	nonsense	probably null
R1764:Mcm3	UTSW	1	20,876,103 (GRCm39)	missense	probably damaging	0.98
R2015:Mcm3	UTSW	1	20,873,804 (GRCm39)	missense	probably damaging	0.98
R2140:Mcm3	UTSW	1	20,883,334 (GRCm39)	missense	probably benign	0.00
R3033:Mcm3	UTSW	1	20,878,992 (GRCm39)	missense	probably damaging	1.00
R4430:Mcm3	UTSW	1	20,882,217 (GRCm39)	nonsense	probably null
R4513:Mcm3	UTSW	1	20,880,456 (GRCm39)	missense	probably damaging	1.00
R4563:Mcm3	UTSW	1	20,879,869 (GRCm39)	missense	probably benign
R4713:Mcm3	UTSW	1	20,873,801 (GRCm39)	missense	probably benign
R4801:Mcm3	UTSW	1	20,880,380 (GRCm39)	missense	probably damaging	0.99
R4802:Mcm3	UTSW	1	20,880,380 (GRCm39)	missense	probably damaging	0.99
R4896:Mcm3	UTSW	1	20,890,480 (GRCm39)	utr 5 prime	probably benign
R5035:Mcm3	UTSW	1	20,873,642 (GRCm39)	utr 3 prime	probably benign
R5461:Mcm3	UTSW	1	20,884,661 (GRCm39)	missense	probably benign	0.00
R5486:Mcm3	UTSW	1	20,885,118 (GRCm39)	missense	probably damaging	1.00
R5531:Mcm3	UTSW	1	20,873,768 (GRCm39)	missense	possibly damaging	0.46
R5759:Mcm3	UTSW	1	20,878,972 (GRCm39)	frame shift	probably null
R5760:Mcm3	UTSW	1	20,878,972 (GRCm39)	frame shift	probably null
R6505:Mcm3	UTSW	1	20,873,768 (GRCm39)	missense	probably damaging	1.00
R6833:Mcm3	UTSW	1	20,880,320 (GRCm39)	missense	possibly damaging	0.48
R6834:Mcm3	UTSW	1	20,880,320 (GRCm39)	missense	possibly damaging	0.48
R7179:Mcm3	UTSW	1	20,885,081 (GRCm39)	missense	probably damaging	0.98
R7514:Mcm3	UTSW	1	20,876,120 (GRCm39)	missense	probably benign	0.19
R7673:Mcm3	UTSW	1	20,882,238 (GRCm39)	missense	probably damaging	1.00
R7689:Mcm3	UTSW	1	20,876,997 (GRCm39)	missense	probably benign	0.29
R7718:Mcm3	UTSW	1	20,887,498 (GRCm39)	nonsense	probably null
R8411:Mcm3	UTSW	1	20,886,980 (GRCm39)	missense	probably benign	0.00
R8412:Mcm3	UTSW	1	20,886,980 (GRCm39)	missense	probably benign	0.00
R8441:Mcm3	UTSW	1	20,884,690 (GRCm39)	missense	probably benign	0.06
R9265:Mcm3	UTSW	1	20,879,905 (GRCm39)	missense	probably damaging	0.98
R9325:Mcm3	UTSW	1	20,875,562 (GRCm39)	missense	probably benign	0.03
X0062:Mcm3	UTSW	1	20,890,361 (GRCm39)	missense	possibly damaging	0.49
Z1176:Mcm3	UTSW	1	20,890,405 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAAAGAAGTTATCAGCGGCCCTG -3'
(R):5'- TGAGCGTCCTCTCTGTACCATTGG -3'

Sequencing Primer
(F):5'- GACCACATCAGCCGTGC -3'
(R):5'- CAGACTTCCTATTAGGGCGG -3'

Posted On

2014-04-24