Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU23:Mcm7'

262631

Institutional Source

Beutler Lab

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 #

ANU23

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138162845-138170675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138168653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 13 (V13I)

Ref Sequence

ENSEMBL: ENSMUSP00000116131 (fasta)

Gene Model

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

AlphaFold

Q61881

Predicted Effect

probably benign
Transcript: ENSMUST00000000505
AA Change: V13I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: V13I

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: 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

noncoding transcript
Transcript: ENSMUST00000139223

Predicted Effect

probably benign
Transcript: ENSMUST00000148879
AA Change: V13I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
AA Change: V13I

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: ENSMUST00000157031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142687

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: ENSMUST00000147920

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: 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: 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 benign
Transcript: ENSMUST00000143241

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

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

Coding Region Coverage

1x: 98.7%
3x: 98.2%
10x: 96.6%
20x: 93.8%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,215,822 (GRCm39)	G88S	probably damaging	Het
Acot10	A	G	15: 20,666,051 (GRCm39)	F230S	probably benign	Het
Akap12	G	T	10: 4,303,273 (GRCm39)	A28S	probably benign	Het
Anks1	C	A	17: 28,205,227 (GRCm39)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,197,710 (GRCm39)	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,357,054 (GRCm39)		probably benign	Het
Camsap2	T	A	1: 136,225,528 (GRCm39)	E199D	probably benign	Het
Ccdc13	A	T	9: 121,656,429 (GRCm39)	M128K	probably benign	Het
Ccdc38	T	C	10: 93,405,797 (GRCm39)		probably null	Het
Cep95	G	A	11: 106,704,641 (GRCm39)	V499I	probably benign	Het
Cpne6	G	C	14: 55,749,459 (GRCm39)	M6I	probably benign	Het
Cpne6	A	T	14: 55,752,706 (GRCm39)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,769,428 (GRCm39)	Y278*	probably null	Het
Dip2c	A	G	13: 9,625,179 (GRCm39)	N558D	possibly damaging	Het
Edar	A	T	10: 58,464,460 (GRCm39)	C60S	probably damaging	Het
Fat2	T	C	11: 55,201,698 (GRCm39)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,251,785 (GRCm39)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,704,810 (GRCm39)	A150V	possibly damaging	Het
Gm5422	A	T	10: 31,125,432 (GRCm39)		noncoding transcript	Het
Gpatch3	CAGGAGGAGGAGGAGGAG	CAGGAGGAGGAGGAG	4: 133,305,613 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,147,020 (GRCm39)	T392A	probably benign	Het
Idh3a	T	A	9: 54,493,829 (GRCm39)		probably null	Het
Itpk1	T	C	12: 102,572,362 (GRCm39)	E117G	probably damaging	Het
Kif12	G	T	4: 63,084,121 (GRCm39)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,626,255 (GRCm39)	F88L	probably benign	Het
Mlh1	T	C	9: 111,081,980 (GRCm39)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,507,833 (GRCm39)	N342S	probably benign	Het
Or4k15	A	G	14: 50,364,039 (GRCm39)	N2D	probably benign	Het
Or52z12	T	C	7: 103,233,900 (GRCm39)	Y224H	probably damaging	Het
Per2	T	C	1: 91,376,555 (GRCm39)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,827,229 (GRCm39)	T486S	probably benign	Het
Prkdc	T	C	16: 15,485,595 (GRCm39)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,445,256 (GRCm39)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,082,395 (GRCm39)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,011,564 (GRCm39)	A110E	probably benign	Het
Siglecf	T	A	7: 43,001,377 (GRCm39)	L115*	probably null	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,892,313 (GRCm39)	K18*	probably null	Het
Spata1	A	T	3: 146,193,154 (GRCm39)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,056,620 (GRCm39)	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,542,588 (GRCm39)	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,934 (GRCm39)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,148,125 (GRCm39)	S230R	probably benign	Het
Zfp334	T	C	2: 165,223,017 (GRCm39)	H342R	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
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

Predicted Primers

PCR Primer
(F):5'- TAGGGTCAAGTTCACCTCACCCAC -3'
(R):5'- GGGCATATCATAGTGCTGGACACC -3'

Sequencing Primer
(F):5'- tgagccacacaaagactacc -3'
(R):5'- CCGCAGGACTCTGTTCTC -3'

Posted On

2015-02-04