Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02534:Mcm5'

297439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm5

Ensembl Gene

ENSMUSG00000005410

Gene Name

minichromosome maintenance complex component 5

Synonyms

mCD46, Mcmd5, Cdc46

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02534

Quality Score

Status

Chromosome

Chromosomal Location

75836197-75855067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75840861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 222 (V222E)

Ref Sequence

ENSEMBL: ENSMUSP00000148525 (fasta)

Gene Model

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

AlphaFold

P49718

Predicted Effect

probably damaging
Transcript: ENSMUST00000164309
AA Change: V222E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: V222E

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: V222E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212811
AA Change: V222E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	C	T	13: 95,506,030 (GRCm39)	E186K	possibly damaging	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Anks1b	A	G	10: 90,730,979 (GRCm39)	I932V	probably benign	Het
Atg2b	A	G	12: 105,609,526 (GRCm39)	Y1361H	probably damaging	Het
Bcl9	G	T	3: 97,122,545 (GRCm39)	L85M	probably damaging	Het
Bcl9l	T	G	9: 44,417,036 (GRCm39)	S291R	probably benign	Het
Cpa2	T	A	6: 30,550,767 (GRCm39)	D201E	probably benign	Het
Efna5	A	T	17: 62,920,384 (GRCm39)	C164*	probably null	Het
Fhip2b	A	T	14: 70,823,128 (GRCm39)	H642Q	probably damaging	Het
Fhip2b	T	A	14: 70,823,630 (GRCm39)	H580L	probably benign	Het
Gm6316	A	G	12: 69,967,763 (GRCm39)		probably benign	Het
Gucy2g	A	G	19: 55,229,500 (GRCm39)	S57P	probably damaging	Het
Inf2	C	A	12: 112,576,930 (GRCm39)	A968E	unknown	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Muc5b	A	G	7: 141,398,456 (GRCm39)	Y287C	unknown	Het
Or12e9	T	G	2: 87,202,598 (GRCm39)	S241A	probably benign	Het
Or13a24	A	T	7: 140,154,554 (GRCm39)	M163L	probably benign	Het
Or14c39	G	A	7: 86,343,939 (GRCm39)	V92M	probably benign	Het
Or8u10	A	G	2: 85,915,713 (GRCm39)	M136T	probably damaging	Het
Pabpc1l	A	G	2: 163,869,410 (GRCm39)	D70G	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Ppp1r17	C	A	6: 56,003,445 (GRCm39)	S86*	probably null	Het
Rasd1	A	G	11: 59,855,615 (GRCm39)	M6T	possibly damaging	Het
Rsph14	C	A	10: 74,793,466 (GRCm39)	V345F	probably damaging	Het
Slc11a2	T	A	15: 100,299,207 (GRCm39)	Q121L	probably benign	Het
Smc5	A	T	19: 23,205,536 (GRCm39)		probably null	Het
Tanc2	T	C	11: 105,725,994 (GRCm39)	L386P	probably damaging	Het
Tmem9b	A	T	7: 109,336,164 (GRCm39)	L160Q	probably damaging	Het
Trim32	A	G	4: 65,532,906 (GRCm39)	T488A	possibly damaging	Het
Tubb1	A	G	2: 174,297,462 (GRCm39)	I24V	probably benign	Het
Upf1	A	T	8: 70,788,302 (GRCm39)		probably null	Het
Zfp263	T	A	16: 3,564,279 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16