Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Mcm8'

239829

Institutional Source

Beutler Lab

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132658061-132686117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132662041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 125 (I125K)

Ref Sequence

ENSEMBL: ENSMUSP00000066842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000039554] [ENSMUST00000066559]

AlphaFold

Q9CWV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028831
AA Change: I153K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: I153K

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: ENSMUST00000039554

SMART Domains

Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Gcd10p	20	302	7.2e-74	PFAM
coiled coil region	345	364	N/A	INTRINSIC
low complexity region	444	456	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066559
AA Change: I125K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: I125K

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

noncoding transcript
Transcript: ENSMUST00000127855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147336

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	probably 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
R1967:Mcm8	UTSW	2	132,684,662 (GRCm39)	missense	probably benign
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'- GGGAGGTGTTAGAAATACCAACTTC -3'
(R):5'- TGCTCCAAGTTCCTAAAACCATG -3'

Sequencing Primer
(F):5'- CTGACTATTACATGCTTTCTGAAGTG -3'
(R):5'- TCTTAGGGGAAGACTGCA -3'

Posted On

2014-10-15