Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Mcm8'

284893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

132816141-132844197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132839529 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 642 (V642F)

Ref Sequence

ENSEMBL: ENSMUSP00000066842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028831
AA Change: V670F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: V670F

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
Blast:MCM	79	155	2e-28	BLAST
MCM	198	742	2.42e-136	SMART
AAA	439	590	5.99e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066559
AA Change: V642F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: V642F

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:MCM	51	127	2e-28	BLAST
MCM	170	714	2.42e-136	SMART
AAA	411	562	5.99e-6	SMART

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 mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility associated with impaired ovarian development and arrested male meiosis, and impaired sensitivity to homologous recombination double-strand break repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Mcm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Mcm8	APN	2	132827537	missense	probably benign
IGL00479:Mcm8	APN	2	132817174	missense	probably benign
IGL00573:Mcm8	APN	2	132832812	missense	possibly damaging	0.94
IGL00847:Mcm8	APN	2	132819674	missense	probably benign	0.29
IGL00978:Mcm8	APN	2	132821406	missense	probably benign
IGL01390:Mcm8	APN	2	132838078	splice site	probably benign
IGL01785:Mcm8	APN	2	132827948	missense	probably benign	0.05
IGL01786:Mcm8	APN	2	132827948	missense	probably benign	0.05
IGL03191:Mcm8	APN	2	132821442	missense	possibly damaging	0.68
madamina	UTSW	2	132832854	missense	probably damaging	1.00
PIT4687001:Mcm8	UTSW	2	132817177	missense	possibly damaging	0.54
R0329:Mcm8	UTSW	2	132819994	missense	possibly damaging	0.64
R0330:Mcm8	UTSW	2	132819994	missense	possibly damaging	0.64
R1520:Mcm8	UTSW	2	132839455	missense	probably benign	0.39
R1771:Mcm8	UTSW	2	132843556	nonsense	probably null
R1967:Mcm8	UTSW	2	132842742	missense	probably benign
R2228:Mcm8	UTSW	2	132820121	missense	possibly damaging	0.85
R2418:Mcm8	UTSW	2	132824738	missense	probably benign
R4728:Mcm8	UTSW	2	132832854	missense	probably damaging	1.00
R4827:Mcm8	UTSW	2	132823254	missense	probably damaging	0.99
R4847:Mcm8	UTSW	2	132820003	missense	probably benign	0.01
R4928:Mcm8	UTSW	2	132839479	missense	probably benign	0.00
R4932:Mcm8	UTSW	2	132838709	missense	probably benign	0.09
R4962:Mcm8	UTSW	2	132838769	missense	probably damaging	1.00
R6044:Mcm8	UTSW	2	132831680	critical splice donor site	probably null
R6081:Mcm8	UTSW	2	132828083	missense	probably benign	0.00
R6650:Mcm8	UTSW	2	132821407	missense	probably benign	0.01
R6685:Mcm8	UTSW	2	132842650	missense	probably damaging	1.00
R7006:Mcm8	UTSW	2	132823261	missense	probably damaging	1.00
R7176:Mcm8	UTSW	2	132820072	missense	probably benign	0.01
R7328:Mcm8	UTSW	2	132832857	missense	probably benign	0.28
R7486:Mcm8	UTSW	2	132839520	missense	probably damaging	1.00
R7631:Mcm8	UTSW	2	132828043	missense	not run
R7664:Mcm8	UTSW	2	132843533	missense	probably damaging	0.96
R7820:Mcm8	UTSW	2	132840772	missense	possibly damaging	0.68

Posted On

2015-04-16