Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Mcm8'

219025

Institutional Source

Beutler Lab

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

MMRRC Submission

039980-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132658061-132686117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 132684662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 759 (I759L)

Ref Sequence

ENSEMBL: ENSMUSP00000066842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000028835] [ENSMUST00000066559] [ENSMUST00000110122] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]

AlphaFold

Q9CWV1

Predicted Effect

probably benign
Transcript: ENSMUST00000028831
AA Change: I787L

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

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: I787L

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 benign
Transcript: ENSMUST00000028835

SMART Domains

Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC
Pfam:CDP-OH_P_transf	107	288	1.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066559
AA Change: I759L

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

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: I759L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110122

SMART Domains

Protein: ENSMUSP00000105749
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124834

SMART Domains

Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124836

SMART Domains

Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	1	175	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135990

Predicted Effect

probably benign
Transcript: ENSMUST00000154160

SMART Domains

Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	7	187	1.8e-15	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly damaging	Het

Other mutations in Mcm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Mcm8	APN	2	132,669,457 (GRCm39)	missense	probably benign
IGL00479:Mcm8	APN	2	132,659,094 (GRCm39)	missense	probably benign
IGL00573:Mcm8	APN	2	132,674,732 (GRCm39)	missense	possibly damaging	0.94
IGL00847:Mcm8	APN	2	132,661,594 (GRCm39)	missense	probably benign	0.29
IGL00978:Mcm8	APN	2	132,663,326 (GRCm39)	missense	probably benign
IGL01390:Mcm8	APN	2	132,679,998 (GRCm39)	splice site	probably benign
IGL01785:Mcm8	APN	2	132,669,868 (GRCm39)	missense	probably benign	0.05
IGL01786:Mcm8	APN	2	132,669,868 (GRCm39)	missense	probably benign	0.05
IGL02216:Mcm8	APN	2	132,681,449 (GRCm39)	missense	probably damaging	1.00
IGL03191:Mcm8	APN	2	132,663,362 (GRCm39)	missense	possibly damaging	0.68
madamina	UTSW	2	132,674,774 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Mcm8	UTSW	2	132,659,097 (GRCm39)	missense	possibly damaging	0.54
R0329:Mcm8	UTSW	2	132,661,914 (GRCm39)	missense	possibly damaging	0.64
R0330:Mcm8	UTSW	2	132,661,914 (GRCm39)	missense	possibly damaging	0.64
R1520:Mcm8	UTSW	2	132,681,375 (GRCm39)	missense	probably benign	0.39
R1771:Mcm8	UTSW	2	132,685,476 (GRCm39)	nonsense	probably null
R2228:Mcm8	UTSW	2	132,662,041 (GRCm39)	missense	possibly damaging	0.85
R2418:Mcm8	UTSW	2	132,666,658 (GRCm39)	missense	probably benign
R4728:Mcm8	UTSW	2	132,674,774 (GRCm39)	missense	probably damaging	1.00
R4827:Mcm8	UTSW	2	132,665,174 (GRCm39)	missense	probably damaging	0.99
R4847:Mcm8	UTSW	2	132,661,923 (GRCm39)	missense	probably benign	0.01
R4928:Mcm8	UTSW	2	132,681,399 (GRCm39)	missense	probably benign	0.00
R4932:Mcm8	UTSW	2	132,680,629 (GRCm39)	missense	probably benign	0.09
R4962:Mcm8	UTSW	2	132,680,689 (GRCm39)	missense	probably damaging	1.00
R6044:Mcm8	UTSW	2	132,673,600 (GRCm39)	critical splice donor site	probably null
R6081:Mcm8	UTSW	2	132,670,003 (GRCm39)	missense	probably benign	0.00
R6650:Mcm8	UTSW	2	132,663,327 (GRCm39)	missense	probably benign	0.01
R6685:Mcm8	UTSW	2	132,684,570 (GRCm39)	missense	probably damaging	1.00
R7006:Mcm8	UTSW	2	132,665,181 (GRCm39)	missense	probably damaging	1.00
R7176:Mcm8	UTSW	2	132,661,992 (GRCm39)	missense	probably benign	0.01
R7328:Mcm8	UTSW	2	132,674,777 (GRCm39)	missense	probably benign	0.28
R7486:Mcm8	UTSW	2	132,681,440 (GRCm39)	missense	probably damaging	1.00
R7631:Mcm8	UTSW	2	132,669,963 (GRCm39)	missense	not run
R7664:Mcm8	UTSW	2	132,685,453 (GRCm39)	missense	probably damaging	0.96
R7820:Mcm8	UTSW	2	132,682,692 (GRCm39)	missense	possibly damaging	0.68
R8090:Mcm8	UTSW	2	132,673,569 (GRCm39)	missense	probably benign	0.30
R8228:Mcm8	UTSW	2	132,684,714 (GRCm39)	critical splice donor site	probably null
R8738:Mcm8	UTSW	2	132,665,141 (GRCm39)	missense	probably benign
Z1176:Mcm8	UTSW	2	132,669,487 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCCGCCATATGAGATAATC -3'
(R):5'- TGGAAATGCCAAAACCTTTGAG -3'

Sequencing Primer
(F):5'- CCCGCCATATGAGATAATCCTTTC -3'
(R):5'- AGACAGATCTCTGAGTTCATGGCC -3'

Posted On

2014-08-25