Mutagenetix > Incidental Mutation

Incidental Mutation 'R7689:Mcm3'

593232

Institutional Source

Beutler Lab

Gene Symbol

Mcm3

Ensembl Gene

ENSMUSG00000041859

Gene Name

minichromosome maintenance complex component 3

Synonyms

p1.m, Mcmd, P1

MMRRC Submission

045753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20873192-20890536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20876997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 646 (V646A)

Ref Sequence

ENSEMBL: ENSMUSP00000059192 (fasta)

Gene Model

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

AlphaFold

P25206

Predicted Effect

probably benign
Transcript: ENSMUST00000053266
AA Change: V646A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: V646A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,440 (GRCm39)	F470Y	probably damaging	Het
Adra1a	T	C	14: 66,875,250 (GRCm39)	L75P	probably damaging	Het
Agap1	T	C	1: 89,762,188 (GRCm39)	S560P	probably damaging	Het
Ahcyl	T	C	16: 45,974,970 (GRCm39)	T136A	probably benign	Het
Arrdc4	T	A	7: 68,391,623 (GRCm39)	I215L	probably damaging	Het
Atad3a	C	T	4: 155,840,610 (GRCm39)	A97T	probably damaging	Het
Bcas3	A	T	11: 85,386,713 (GRCm39)	T383S	probably benign	Het
C2cd5	G	A	6: 142,995,951 (GRCm39)	R379*	probably null	Het
Cacna1e	G	T	1: 154,274,549 (GRCm39)	H2138N	probably benign	Het
Card14	A	T	11: 119,216,328 (GRCm39)	D303V	possibly damaging	Het
Ccdc202	T	C	14: 96,119,252 (GRCm39)	V3A	probably benign	Het
Cfhr1	T	C	1: 139,475,478 (GRCm39)	Y331C	unknown	Het
Chp1	G	A	2: 119,415,146 (GRCm39)	D183N	probably benign	Het
Cntn2	T	C	1: 132,443,882 (GRCm39)	T966A	probably benign	Het
Cpne9	T	G	6: 113,266,965 (GRCm39)	C133G	probably damaging	Het
Cspg4b	A	G	13: 113,515,948 (GRCm39)	T121A		Het
Cul7	C	T	17: 46,963,747 (GRCm39)	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,710,897 (GRCm39)	D221G	probably benign	Het
Dmxl1	T	A	18: 49,979,685 (GRCm39)	F107I	probably benign	Het
Dnhd1	A	G	7: 105,363,170 (GRCm39)	I3911V	probably benign	Het
Eif1ad16	A	G	12: 87,985,259 (GRCm39)	Y95H	probably damaging	Het
Eloa	T	C	4: 135,736,595 (GRCm39)	H551R	probably benign	Het
Fam171b	T	A	2: 83,709,732 (GRCm39)	V468D	probably benign	Het
Fat2	A	G	11: 55,200,666 (GRCm39)	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,201 (GRCm39)	D2G	probably benign	Het
Fbxo8	A	G	8: 57,041,120 (GRCm39)	T179A	probably benign	Het
Gdap1	A	G	1: 17,231,623 (GRCm39)	T323A	probably damaging	Het
Gm136	T	C	4: 34,743,875 (GRCm39)	N323S	probably null	Het
Gm6899	A	T	11: 26,543,819 (GRCm39)	T129S	unknown	Het
Gnb3	A	T	6: 124,814,183 (GRCm39)	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,057,966 (GRCm39)	F232L	probably damaging	Het
Gpx8	T	C	13: 113,179,711 (GRCm39)	M197V	probably benign	Het
Gse1	G	T	8: 121,295,217 (GRCm39)	R446L	unknown	Het
Itch	A	T	2: 155,054,987 (GRCm39)	T764S	probably benign	Het
Itch	A	G	2: 155,051,922 (GRCm39)	K614E	probably damaging	Het
Itpkb	T	G	1: 180,241,544 (GRCm39)	M738R	probably damaging	Het
Jph1	T	A	1: 17,074,192 (GRCm39)	K609*	probably null	Het
Kcns1	G	A	2: 164,010,241 (GRCm39)	R173C	probably damaging	Het
Larp4b	C	T	13: 9,186,834 (GRCm39)	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,715,918 (GRCm39)	S239*	probably null	Het
Lyst	T	G	13: 13,857,808 (GRCm39)		probably null	Het
Mccc1	T	A	3: 36,015,132 (GRCm39)	R663*	probably null	Het
Mdn1	T	C	4: 32,739,912 (GRCm39)	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,002 (GRCm39)	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,279,906 (GRCm39)	I884T	probably benign	Het
Muc4	C	T	16: 32,574,439 (GRCm39)	T963I	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Mucl3	C	A	17: 35,948,969 (GRCm39)	S210I	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ndrg2	C	T	14: 52,147,812 (GRCm39)	A102T	possibly damaging	Het
Nhsl3	T	C	4: 129,117,566 (GRCm39)	N411S	probably benign	Het
Nos1	A	G	5: 118,035,792 (GRCm39)	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Otog	T	C	7: 45,901,480 (GRCm39)	L393P	probably damaging	Het
Plcl1	A	G	1: 55,736,627 (GRCm39)	N656S	probably damaging	Het
Pole3	C	A	4: 62,443,060 (GRCm39)	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,140 (GRCm39)	I210F	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rbpms	A	T	8: 34,354,387 (GRCm39)	S53T	possibly damaging	Het
Rgs7	C	A	1: 174,949,296 (GRCm39)	V203L	probably benign	Het
Riok1	A	T	13: 38,229,263 (GRCm39)	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,274,900 (GRCm39)	L335P	probably benign	Het
Rsph6a	T	G	7: 18,801,962 (GRCm39)	I592S	possibly damaging	Het
Skor1	C	T	9: 63,052,661 (GRCm39)	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,433,319 (GRCm39)	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,585,248 (GRCm39)	S266P	probably damaging	Het
Socs2	A	G	10: 95,250,845 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,668 (GRCm39)	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,882,051 (GRCm39)	N77D	probably damaging	Het
Tmem236	T	A	2: 14,197,076 (GRCm39)	L88Q	probably damaging	Het
Ttc41	A	G	10: 86,595,088 (GRCm39)	E954G	probably damaging	Het
Vmn1r34	G	T	6: 66,613,994 (GRCm39)	S248*	probably null	Het
Wipf1	T	C	2: 73,262,789 (GRCm39)	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,476,946 (GRCm39)	N3187S	probably benign	Het
Zfp202	C	A	9: 40,121,829 (GRCm39)	P309T	probably benign	Het
Zfp39	T	C	11: 58,781,469 (GRCm39)	H431R	probably damaging	Het
Zfp658	T	A	7: 43,224,102 (GRCm39)	H792Q	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
R1599:Mcm3	UTSW	1	20,890,422 (GRCm39)	missense	probably benign	0.08
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
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'- GCACAAGGCTCAACTTCCTC -3'
(R):5'- TCTGTGCCATAAGAGTAAGACAC -3'

Sequencing Primer
(F):5'- CTTGTTAGAAAAGAACAGGCCTC -3'
(R):5'- GAGTAAGACACATGTTTCTGCAC -3'

Posted On

2019-11-12