Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Mcm7'

694204

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 #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138162845-138170675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138167397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 182 (Y182C)

Ref Sequence

ENSEMBL: ENSMUSP00000000505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000019662] [ENSMUST00000139983] [ENSMUST00000143241] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000148879] [ENSMUST00000151318] [ENSMUST00000153867] [ENSMUST00000155902]

AlphaFold

Q61881

Predicted Effect

probably damaging
Transcript: ENSMUST00000000505
AA Change: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: Y182C

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: ENSMUST00000019662

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	142	2e-49	SMART
Pfam:Adap_comp_sub	173	449	2.5e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139983
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730
AA Change: Y75C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143241

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	86	2e-25	SMART

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 damaging
Transcript: ENSMUST00000148879
AA Change: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
AA Change: Y182C

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: ENSMUST00000151318

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	47	153	3.6e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153867
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730
AA Change: Y75C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155902
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730
AA Change: Y75C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly 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
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
R9681:Mcm7	UTSW	5	138,164,220 (GRCm39)	nonsense	probably null
R9707:Mcm7	UTSW	5	138,170,000 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGAAAGTGGGAGACTGGATCTAC -3'
(R):5'- TATCTCTGTGGGAAAGGGCG -3'

Sequencing Primer
(F):5'- GACTGGATCTACAAACAAGGAAAAC -3'
(R):5'- ACTTGCTCTCCGGGGACTTG -3'

Posted On

2022-01-20