Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Mcm5'

734531

Institutional Source

Beutler Lab

Gene Symbol

Mcm5

Ensembl Gene

ENSMUSG00000005410

Gene Name

minichromosome maintenance complex component 5

Synonyms

mCD46, Mcmd5, Cdc46

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75836197-75855067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75844168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 313 (S313F)

Ref Sequence

ENSEMBL: ENSMUSP00000126135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164309] [ENSMUST00000212426] [ENSMUST00000212811]

AlphaFold

P49718

Predicted Effect

probably benign
Transcript: ENSMUST00000164309
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: S313F

Domain	Start	End	E-Value	Type
MCM	133	649	N/A	SMART
Blast:MCM	693	734	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000212426
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212811
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the oligameric minichromosome maintenance protein complex. During DNA replication, the complex loads onto chromatin in early G1 and is converted into an active replicative helicase during S phase. It functions to limit DNA synthesis to once per cell cycle. During embryogenesis, the encoded protein is negatively regulated through expression of paired box protein Pax 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
C8b	A	T	4: 104,640,191 (GRCm39)	M165L	probably benign	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,169,196 (GRCm39)	A653V	probably benign	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Dstyk	A	T	1: 132,381,859 (GRCm39)	M538L	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Klhl28	A	G	12: 64,996,871 (GRCm39)	V490A	probably damaging	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Neo1	T	A	9: 58,801,307 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	possibly damaging	Het

Other mutations in Mcm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Mcm5	APN	8	75,851,573 (GRCm39)	critical splice donor site	probably null
IGL00954:Mcm5	APN	8	75,836,740 (GRCm39)	missense	possibly damaging	0.78
IGL02534:Mcm5	APN	8	75,840,861 (GRCm39)	missense	probably damaging	1.00
IGL03074:Mcm5	APN	8	75,845,929 (GRCm39)	missense	possibly damaging	0.94
IGL03176:Mcm5	APN	8	75,836,481 (GRCm39)	missense	possibly damaging	0.95
IGL03240:Mcm5	APN	8	75,842,530 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Mcm5	UTSW	8	75,853,864 (GRCm39)	missense	probably benign
R0133:Mcm5	UTSW	8	75,847,539 (GRCm39)	missense	probably damaging	1.00
R0138:Mcm5	UTSW	8	75,847,508 (GRCm39)	missense	probably damaging	1.00
R0226:Mcm5	UTSW	8	75,852,880 (GRCm39)	missense	possibly damaging	0.90
R0733:Mcm5	UTSW	8	75,853,876 (GRCm39)	missense	probably benign	0.08
R1217:Mcm5	UTSW	8	75,852,919 (GRCm39)	missense	probably benign	0.01
R1601:Mcm5	UTSW	8	75,845,982 (GRCm39)	missense	possibly damaging	0.87
R1834:Mcm5	UTSW	8	75,845,901 (GRCm39)	missense	possibly damaging	0.64
R1958:Mcm5	UTSW	8	75,848,257 (GRCm39)	missense	probably benign	0.34
R3410:Mcm5	UTSW	8	75,848,272 (GRCm39)	missense	possibly damaging	0.88
R4133:Mcm5	UTSW	8	75,842,482 (GRCm39)	missense	probably damaging	1.00
R4441:Mcm5	UTSW	8	75,839,172 (GRCm39)	missense	probably benign	0.39
R5395:Mcm5	UTSW	8	75,849,654 (GRCm39)	missense	probably benign
R5710:Mcm5	UTSW	8	75,847,538 (GRCm39)	missense	probably damaging	1.00
R5714:Mcm5	UTSW	8	75,847,538 (GRCm39)	missense	probably damaging	1.00
R6075:Mcm5	UTSW	8	75,840,825 (GRCm39)	missense	probably damaging	1.00
R6093:Mcm5	UTSW	8	75,836,374 (GRCm39)	missense	probably benign	0.06
R6477:Mcm5	UTSW	8	75,839,230 (GRCm39)	missense	probably benign	0.36
R6848:Mcm5	UTSW	8	75,853,918 (GRCm39)	missense	possibly damaging	0.88
R7098:Mcm5	UTSW	8	75,847,529 (GRCm39)	missense	probably damaging	1.00
R7208:Mcm5	UTSW	8	75,848,344 (GRCm39)	critical splice donor site	probably null
R7278:Mcm5	UTSW	8	75,851,487 (GRCm39)	missense	probably benign	0.40
R7552:Mcm5	UTSW	8	75,848,220 (GRCm39)	missense	probably damaging	0.99
R7701:Mcm5	UTSW	8	75,850,551 (GRCm39)	missense	probably benign	0.00
R9072:Mcm5	UTSW	8	75,852,934 (GRCm39)	missense	probably damaging	1.00
R9073:Mcm5	UTSW	8	75,852,934 (GRCm39)	missense	probably damaging	1.00
R9124:Mcm5	UTSW	8	75,851,418 (GRCm39)	splice site	probably benign
R9194:Mcm5	UTSW	8	75,836,962 (GRCm39)	missense	probably damaging	0.99
R9489:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9491:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9492:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9557:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9605:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9607:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9608:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9609:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9654:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9655:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9656:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9657:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9659:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9662:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9663:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9709:Mcm5	UTSW	8	75,842,604 (GRCm39)	missense	probably damaging	1.00
R9728:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9730:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9731:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9732:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9773:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9774:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9785:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9786:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
R9788:Mcm5	UTSW	8	75,844,168 (GRCm39)	missense	probably benign	0.03
Z1177:Mcm5	UTSW	8	75,848,300 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AACTTTCCTGAGTAAGACTGTGTG -3'
(R):5'- ACCTGGTCCTCATCACACAG -3'

Sequencing Primer
(F):5'- AGTAAGACTGTGTGCGTCCTCC -3'
(R):5'- TGCAGCAGCCTTGTCATCAG -3'

Posted On

2022-11-14