Mutagenetix > Incidental Mutation

Incidental Mutation 'R9073:Mcm5'

692883

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 #

R9073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75836197-75855067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75852934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 682 (R682H)

Ref Sequence

ENSEMBL: ENSMUSP00000126135 (fasta)

Gene Model

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

AlphaFold

P49718

Predicted Effect

probably damaging
Transcript: ENSMUST00000164309
AA Change: R682H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: R682H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212426
AA Change: R682H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212811
AA Change: R682H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Clasp1	C	A	1: 118,390,193 (GRCm39)		probably null	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,323,688 (GRCm39)	R481*	probably null	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Gfra2	A	G	14: 71,138,935 (GRCm39)	E121G	possibly damaging	Het
Git1	G	A	11: 77,389,901 (GRCm39)	A55T	probably benign	Het
Gm12887	G	T	4: 121,479,238 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Rad51b	T	G	12: 79,344,439 (GRCm39)		probably benign	Het
Rgs12	A	T	5: 35,177,753 (GRCm39)		probably benign	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Ticrr	T	A	7: 79,317,679 (GRCm39)	D404E	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Tpbg	A	T	9: 85,724,924 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,193,676 (GRCm39)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	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
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
R9789: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'- CACTGTCATAATGGTGTTCTGTC -3'
(R):5'- GTGGCTCAAACATCCCCATC -3'

Sequencing Primer
(F):5'- TAATTTTCTCTGGTTCAGGCCAC -3'
(R):5'- ACCCCTCTGCTGAGCACAG -3'

Posted On

2021-12-30