Mutagenetix > Incidental Mutation

Incidental Mutation 'R9681:Mcm7'

728547

Institutional Source

Beutler Lab

Gene Symbol

Mcm7

Ensembl Gene

ENSMUSG00000029730

Gene Name

minichromosome maintenance complex component 7

Synonyms

mCDC47, Mcmd7

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138162845-138170675 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 138164220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 600 (Y600*)

Ref Sequence

ENSEMBL: ENSMUSP00000000505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000110951] [ENSMUST00000132639] [ENSMUST00000139983] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000148879] [ENSMUST00000153867] [ENSMUST00000155902]

AlphaFold

Q61881

Predicted Effect

probably null
Transcript: ENSMUST00000000505
AA Change: Y600*

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: Y600*

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	1e-41	BLAST
MCM	145	642	N/A	SMART
AAA	373	526	2.9e-4	SMART
Blast:MCM	658	719	1e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000019638

SMART Domains

Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
JAB_MPN	37	170	9.73e-35	SMART
Pfam:MitMem_reg	191	304	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110951

SMART Domains

Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494

Domain	Start	End	E-Value	Type
JAB_MPN	10	143	9.73e-35	SMART
Pfam:MitMem_reg	163	279	2.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132639

SMART Domains

Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494

Domain	Start	End	E-Value	Type
Pfam:MitMem_reg	17	112	3.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139983

SMART Domains

Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	5.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147920

Predicted Effect

probably benign
Transcript: ENSMUST00000148094

SMART Domains

Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	1	25	4e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148879

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	6e-44	BLAST
MCM	145	389	1.77e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153867

SMART Domains

Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	9.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155902

SMART Domains

Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Pfam:MCM_N	1	58	5.3e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the 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. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	A	G	6: 72,324,450 (GRCm39)	D20G	probably damaging	Het
Acbd3	T	A	1: 180,566,082 (GRCm39)	Y258*	probably null	Het
Adamts1	T	A	16: 85,599,498 (GRCm39)	H34L		Het
Ankmy1	G	T	1: 92,813,882 (GRCm39)	N432K	possibly damaging	Het
Ano1	A	G	7: 144,143,893 (GRCm39)	M966T	possibly damaging	Het
Ark2n	A	T	18: 77,722,989 (GRCm39)	V349D	possibly damaging	Het
C2cd3	A	G	7: 100,023,662 (GRCm39)	T83A	probably benign	Het
Cdk1	T	A	10: 69,178,449 (GRCm39)	D137V	possibly damaging	Het
Cfap299	T	A	5: 98,477,214 (GRCm39)	M1K	probably null	Het
Chia1	A	G	3: 106,037,996 (GRCm39)	Y326C	probably damaging	Het
Ciz1	A	G	2: 32,260,974 (GRCm39)	D295G	possibly damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cr1l	T	C	1: 194,800,149 (GRCm39)	D175G	probably damaging	Het
Crem	A	T	18: 3,268,067 (GRCm39)	V87E	probably damaging	Het
Cyp2b19	T	A	7: 26,466,328 (GRCm39)	L377Q	probably benign	Het
Ddx42	T	A	11: 106,125,679 (GRCm39)	V243D	probably damaging	Het
Dnah14	T	C	1: 181,562,414 (GRCm39)	V2658A	possibly damaging	Het
Dnah3	T	G	7: 119,677,611 (GRCm39)	M437L	probably benign	Het
Flrt2	T	A	12: 95,745,425 (GRCm39)		probably benign	Het
Gm10142	T	A	10: 77,551,880 (GRCm39)	C80*	probably null	Het
Gpr158	A	G	2: 21,831,315 (GRCm39)	E805G	probably damaging	Het
Grwd1	T	C	7: 45,479,473 (GRCm39)	E134G	probably benign	Het
Hdac11	T	A	6: 91,150,068 (GRCm39)	V289D	probably benign	Het
Hsdl1	T	C	8: 120,293,081 (GRCm39)	E118G	possibly damaging	Het
Igdcc4	T	A	9: 65,041,858 (GRCm39)	L1095Q	possibly damaging	Het
Ildr1	T	A	16: 36,528,749 (GRCm39)	C65S	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Itsn2	G	T	12: 4,683,499 (GRCm39)	V341F	unknown	Het
Jak1	G	A	4: 101,019,085 (GRCm39)	R723C	probably damaging	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Limd1	T	A	9: 123,345,903 (GRCm39)	C561S	possibly damaging	Het
Map3k19	A	G	1: 127,750,097 (GRCm39)	F1085L	possibly damaging	Het
Mecom	A	T	3: 30,033,803 (GRCm39)	D300E	probably benign	Het
Mfap4	T	A	11: 61,376,925 (GRCm39)	Y51*	probably null	Het
Mug1	T	A	6: 121,833,254 (GRCm39)	N286K	probably benign	Het
Myl2	A	T	5: 122,240,783 (GRCm39)	R40*	probably null	Het
Nom1	A	G	5: 29,642,623 (GRCm39)	S375G	probably damaging	Het
Nrcam	C	A	12: 44,598,133 (GRCm39)	P368Q	probably null	Het
Oca2	G	C	7: 55,943,623 (GRCm39)	Q265H	probably null	Het
Or52a20	T	A	7: 103,366,475 (GRCm39)	F225I	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or5k8	T	A	16: 58,644,176 (GRCm39)	N299Y	possibly damaging	Het
Or6c88	A	T	10: 129,406,664 (GRCm39)	T47S	probably damaging	Het
Or7a41	G	A	10: 78,871,577 (GRCm39)	D316N	probably benign	Het
Palmd	T	C	3: 116,717,120 (GRCm39)	E459G	probably benign	Het
Pde1a	G	T	2: 79,695,465 (GRCm39)	A494D	probably benign	Het
Pds5a	T	C	5: 65,808,587 (GRCm39)	Y428C	probably damaging	Het
Pgm2	T	C	5: 64,254,391 (GRCm39)	F59L	probably benign	Het
Plekhm1	A	G	11: 103,258,950 (GRCm39)	V980A	possibly damaging	Het
Polb	T	C	8: 23,118,346 (GRCm39)	D318G	possibly damaging	Het
Rasgef1c	T	A	11: 49,861,040 (GRCm39)	M335K	probably damaging	Het
Rasgrp4	T	C	7: 28,849,687 (GRCm39)	S651P	probably benign	Het
Robo3	A	C	9: 37,334,558 (GRCm39)	I624S	possibly damaging	Het
Robo3	T	A	9: 37,339,087 (GRCm39)	H290L	probably benign	Het
Rps6kl1	T	C	12: 85,183,599 (GRCm39)	H482R	probably damaging	Het
Slc26a9	A	T	1: 131,681,691 (GRCm39)	E168V	probably benign	Het
Slc3a2	T	C	19: 8,691,226 (GRCm39)		probably benign	Het
Slc4a4	A	T	5: 89,102,723 (GRCm39)	K54*	probably null	Het
Slitrk6	A	G	14: 110,988,258 (GRCm39)	L483P	probably damaging	Het
Svep1	T	A	4: 58,084,959 (GRCm39)	N1793I	probably damaging	Het
Ttn	T	C	2: 76,612,723 (GRCm39)	I17119V	possibly damaging	Het
Tulp4	T	C	17: 6,274,500 (GRCm39)	L617P	possibly damaging	Het
Uhrf1	A	G	17: 56,625,083 (GRCm39)	N542S	possibly damaging	Het
Vmn1r151	T	A	7: 22,198,368 (GRCm39)	T246S	probably damaging	Het
Vmn1r57	T	A	7: 5,224,069 (GRCm39)	V198E	probably damaging	Het
Vmn2r99	A	T	17: 19,598,889 (GRCm39)	Q191L	probably damaging	Het
Vrk3	C	T	7: 44,403,356 (GRCm39)	T39M	possibly damaging	Het
Zc3h3	C	A	15: 75,681,470 (GRCm39)	R537L	probably damaging	Het
Zfp64	A	T	2: 168,793,680 (GRCm39)	V22E	probably damaging	Het
Zwint	T	C	10: 72,493,112 (GRCm39)	L218P	probably damaging	Het

Other mutations in Mcm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01649:Mcm7	APN	5	138,167,698 (GRCm39)	missense	probably damaging	1.00
IGL01954:Mcm7	APN	5	138,165,507 (GRCm39)	missense	probably damaging	1.00
IGL02611:Mcm7	APN	5	138,165,701 (GRCm39)	missense	probably damaging	1.00
ANU23:Mcm7	UTSW	5	138,168,653 (GRCm39)	missense	probably benign	0.02
PIT1430001:Mcm7	UTSW	5	138,165,708 (GRCm39)	unclassified	probably benign
R0022:Mcm7	UTSW	5	138,162,981 (GRCm39)	makesense	probably null
R1306:Mcm7	UTSW	5	138,165,465 (GRCm39)	missense	probably damaging	1.00
R1865:Mcm7	UTSW	5	138,168,637 (GRCm39)	missense	possibly damaging	0.47
R2132:Mcm7	UTSW	5	138,167,364 (GRCm39)	missense	probably damaging	1.00
R3719:Mcm7	UTSW	5	138,164,976 (GRCm39)	nonsense	probably null
R3781:Mcm7	UTSW	5	138,162,998 (GRCm39)	missense	probably damaging	0.99
R3782:Mcm7	UTSW	5	138,162,998 (GRCm39)	missense	probably damaging	0.99
R4724:Mcm7	UTSW	5	138,167,387 (GRCm39)	missense	probably damaging	1.00
R4882:Mcm7	UTSW	5	138,164,173 (GRCm39)	splice site	probably null
R5012:Mcm7	UTSW	5	138,167,609 (GRCm39)	critical splice donor site	probably null
R5517:Mcm7	UTSW	5	138,163,133 (GRCm39)	missense	possibly damaging	0.92
R5718:Mcm7	UTSW	5	138,163,081 (GRCm39)	missense	possibly damaging	0.95
R7604:Mcm7	UTSW	5	138,167,986 (GRCm39)	missense	probably benign	0.01
R8806:Mcm7	UTSW	5	138,163,347 (GRCm39)	missense	possibly damaging	0.81
R9139:Mcm7	UTSW	5	138,167,397 (GRCm39)	missense	probably damaging	1.00
R9209:Mcm7	UTSW	5	138,166,593 (GRCm39)	critical splice donor site	probably null
R9421:Mcm7	UTSW	5	138,165,477 (GRCm39)	missense	possibly damaging	0.76
R9707:Mcm7	UTSW	5	138,170,000 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGGACCACTATCTGCACTG -3'
(R):5'- GAAATCCCTCACTGTCCACGTC -3'

Sequencing Primer
(F):5'- GTCAGCACTTTAGTCCCAGCAG -3'
(R):5'- GTGGGGAATCTCATAAAGCCTGC -3'

Posted On

2022-10-06