Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Mcm5'

33929

Institutional Source

Beutler Lab

Gene Symbol

Mcm5

Ensembl Gene

ENSMUSG00000005410

Gene Name

minichromosome maintenance complex component 5

Synonyms

Cdc46, mCD46, Mcmd5

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

75109569-75128439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75126252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 664 (T664I)

Ref Sequence

ENSEMBL: ENSMUSP00000148525 (fasta)

Gene Model

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

AlphaFold

P49718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164309
AA Change: T664I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: T664I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211912

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212426
AA Change: T664I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212648

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212811
AA Change: T664I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2082

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	Het

Other mutations in Mcm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Mcm5	APN	8	75124945	critical splice donor site	probably null
IGL00954:Mcm5	APN	8	75110112	missense	possibly damaging	0.78
IGL02534:Mcm5	APN	8	75114233	missense	probably damaging	1.00
IGL03074:Mcm5	APN	8	75119301	missense	possibly damaging	0.94
IGL03176:Mcm5	APN	8	75109853	missense	possibly damaging	0.95
IGL03240:Mcm5	APN	8	75115902	missense	probably damaging	1.00
PIT4142001:Mcm5	UTSW	8	75127236	missense	probably benign
R0133:Mcm5	UTSW	8	75120911	missense	probably damaging	1.00
R0138:Mcm5	UTSW	8	75120880	missense	probably damaging	1.00
R0733:Mcm5	UTSW	8	75127248	missense	probably benign	0.08
R1217:Mcm5	UTSW	8	75126291	missense	probably benign	0.01
R1601:Mcm5	UTSW	8	75119354	missense	possibly damaging	0.87
R1834:Mcm5	UTSW	8	75119273	missense	possibly damaging	0.64
R1958:Mcm5	UTSW	8	75121629	missense	probably benign	0.34
R3410:Mcm5	UTSW	8	75121644	missense	possibly damaging	0.88
R4133:Mcm5	UTSW	8	75115854	missense	probably damaging	1.00
R4441:Mcm5	UTSW	8	75112544	missense	probably benign	0.39
R5395:Mcm5	UTSW	8	75123026	missense	probably benign
R5710:Mcm5	UTSW	8	75120910	missense	probably damaging	1.00
R5714:Mcm5	UTSW	8	75120910	missense	probably damaging	1.00
R6075:Mcm5	UTSW	8	75114197	missense	probably damaging	1.00
R6093:Mcm5	UTSW	8	75109746	missense	probably benign	0.06
R6477:Mcm5	UTSW	8	75112602	missense	probably benign	0.36
R6848:Mcm5	UTSW	8	75127290	missense	possibly damaging	0.88
R7098:Mcm5	UTSW	8	75120901	missense	probably damaging	1.00
R7208:Mcm5	UTSW	8	75121716	critical splice donor site	probably null
R7278:Mcm5	UTSW	8	75124859	missense	probably benign	0.40
R7552:Mcm5	UTSW	8	75121592	missense	probably damaging	0.99
R7701:Mcm5	UTSW	8	75123923	missense	probably benign	0.00
R9072:Mcm5	UTSW	8	75126306	missense	probably damaging	1.00
R9073:Mcm5	UTSW	8	75126306	missense	probably damaging	1.00
R9124:Mcm5	UTSW	8	75124790	splice site	probably benign
R9194:Mcm5	UTSW	8	75110334	missense	probably damaging	0.99
R9489:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9491:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9492:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9557:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9605:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9607:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9608:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9609:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9654:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9655:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9656:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9657:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9659:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9662:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9663:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9709:Mcm5	UTSW	8	75115976	missense	probably damaging	1.00
R9728:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9730:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9731:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9732:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9773:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9774:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9785:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9786:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9788:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
R9789:Mcm5	UTSW	8	75117540	missense	probably benign	0.03
Z1177:Mcm5	UTSW	8	75121672	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGGTATGTGTAGCCCATAGGGTCTC -3'
(R):5'- AGCAGGACATCCTCTGTATCCTGG -3'

Sequencing Primer
(F):5'- gcctctgtcacctttccc -3'
(R):5'- GGGCCTGGCTTGTAGAC -3'

Posted On

2013-05-09