Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Mcm7'

102766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm7

Ensembl Gene

ENSMUSG00000029730

Gene Name

minichromosome maintenance complex component 7

Synonyms

mCDC47, Mcmd7

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

138162845-138170675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138167698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 105 (H105R)

Ref Sequence

ENSEMBL: ENSMUSP00000116131 (fasta)

Gene Model

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

AlphaFold

Q61881

Predicted Effect

probably damaging
Transcript: ENSMUST00000000505
AA Change: H105R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: H105R

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

noncoding transcript
Transcript: ENSMUST00000083460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125316

Predicted Effect

probably damaging
Transcript: ENSMUST00000148879
AA Change: H105R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
AA Change: H105R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157031

Predicted Effect

probably benign
Transcript: ENSMUST00000147920

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

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: 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: 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: 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: ENSMUST00000151318

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	probably benign	Het

Other mutations in Mcm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9681:Mcm7	UTSW	5	138,164,220 (GRCm39)	nonsense	probably null
R9707:Mcm7	UTSW	5	138,170,000 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21