Mutagenetix > Incidental Mutation

Incidental Mutation 'R5428:Mcmbp'

427010

Institutional Source

Beutler Lab

Gene Symbol

Mcmbp

Ensembl Gene

ENSMUSG00000048170

Gene Name

minichromosome maintenance complex binding protein

Synonyms

1110007A13Rik

MMRRC Submission

042994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128298165-128342153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128306248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 457 (V457I)

Ref Sequence

ENSEMBL: ENSMUSP00000062843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057557] [ENSMUST00000119081]

AlphaFold

Q8R3C0

Predicted Effect

probably benign
Transcript: ENSMUST00000057557
AA Change: V457I

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: V457I

Domain	Start	End	E-Value	Type
Pfam:MCM_bind	37	166	1.6e-44	PFAM
Pfam:Racemase_4	352	451	1.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119081
AA Change: V457I

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: V457I

Domain	Start	End	E-Value	Type
Pfam:MCM_bind	36	588	3.6e-210	PFAM
low complexity region	603	623	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127807

Meta Mutation Damage Score

0.0730

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,635,918 (GRCm39)	V324L	probably benign	Het
Abl2	T	C	1: 156,469,681 (GRCm39)	C982R	probably damaging	Het
Adgrl4	G	A	3: 151,248,323 (GRCm39)	C665Y	probably damaging	Het
Adra1d	A	G	2: 131,403,323 (GRCm39)	S256P	probably damaging	Het
Aipl1	T	A	11: 71,921,313 (GRCm39)	Y194F	probably benign	Het
Arfgef1	C	A	1: 10,231,060 (GRCm39)	D1150Y	probably damaging	Het
Arl14epl	A	T	18: 47,059,387 (GRCm39)	M1L	possibly damaging	Het
Colgalt1	G	T	8: 72,075,420 (GRCm39)	R442L	probably damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dach1	A	G	14: 98,406,705 (GRCm39)	V14A	unknown	Het
Defa30	A	G	8: 21,625,419 (GRCm39)	D61G	probably benign	Het
Dnaja2	A	T	8: 86,266,804 (GRCm39)	C308S	probably benign	Het
Emc4	A	G	2: 112,197,700 (GRCm39)		probably benign	Het
Foxp1	A	G	6: 98,993,592 (GRCm39)	V104A	probably damaging	Het
Fry	T	G	5: 150,328,824 (GRCm39)	L1319R	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja10	T	A	4: 32,601,169 (GRCm39)	H405L	probably benign	Het
Gm27047	A	G	6: 130,607,527 (GRCm39)		noncoding transcript	Het
Grm1	T	A	10: 10,595,307 (GRCm39)	T774S	probably damaging	Het
Gtse1	A	C	15: 85,746,340 (GRCm39)	D52A	probably benign	Het
Kctd17	T	A	15: 78,312,982 (GRCm39)	F42Y	probably damaging	Het
Kndc1	A	G	7: 139,488,878 (GRCm39)	K178E	probably damaging	Het
Lrrc74b	T	C	16: 17,376,125 (GRCm39)	E175G	probably damaging	Het
Macf1	A	G	4: 123,278,661 (GRCm39)	I5927T	probably damaging	Het
Maml2	A	G	9: 13,617,191 (GRCm39)	N935S	probably benign	Het
Man2a1	A	G	17: 65,019,295 (GRCm39)	I720V	probably benign	Het
Map3k5	C	T	10: 19,899,399 (GRCm39)	H219Y	possibly damaging	Het
Map4k5	T	C	12: 69,884,787 (GRCm39)	T314A	possibly damaging	Het
Mast3	A	G	8: 71,237,377 (GRCm39)	V615A	possibly damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nacc1	T	C	8: 85,402,783 (GRCm39)	I337V	probably damaging	Het
Nipbl	T	C	15: 8,359,780 (GRCm39)	D1475G	probably benign	Het
Orc1	T	A	4: 108,457,137 (GRCm39)	D392E	probably benign	Het
Pappa2	T	C	1: 158,642,355 (GRCm39)	T1297A	possibly damaging	Het
Plag1	C	T	4: 3,905,538 (GRCm39)	V51I	possibly damaging	Het
Ppp1r12a	G	A	10: 108,089,208 (GRCm39)	E616K	possibly damaging	Het
Ptgs1	A	G	2: 36,135,280 (GRCm39)	M415V	probably benign	Het
Ralgapa2	C	T	2: 146,176,414 (GRCm39)	E1683K	probably damaging	Het
Rap2a	T	A	14: 120,716,406 (GRCm39)	F90I	probably benign	Het
Rcvrn	A	G	11: 67,590,875 (GRCm39)	E153G	possibly damaging	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skil	T	A	3: 31,151,647 (GRCm39)	D56E	probably benign	Het
Slc22a18	G	T	7: 143,033,082 (GRCm39)	G57W	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Synj1	T	C	16: 90,788,406 (GRCm39)	D154G	probably damaging	Het
Tbc1d24	A	T	17: 24,400,746 (GRCm39)	N156K	probably benign	Het
Tcea1	A	T	1: 4,950,568 (GRCm39)		probably benign	Het
Tmc3	T	C	7: 83,261,755 (GRCm39)	V611A	probably damaging	Het
Tnrc6c	A	G	11: 117,591,588 (GRCm39)	M1V	probably null	Het
Tomm5	A	T	4: 45,106,689 (GRCm39)		probably benign	Het
Ttc6	A	G	12: 57,736,620 (GRCm39)	K1207R	probably null	Het
Ttn	T	C	2: 76,591,448 (GRCm39)	T12747A	possibly damaging	Het
Ttn	A	T	2: 76,715,480 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,569,175 (GRCm39)	D1147G	probably benign	Het
Vmn1r53	T	C	6: 90,200,395 (GRCm39)	I310V	probably benign	Het
Washc4	A	C	10: 83,410,386 (GRCm39)	D658A	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Ylpm1	T	C	12: 85,077,003 (GRCm39)	F1243L	probably benign	Het
Zbtb24	T	C	10: 41,340,784 (GRCm39)	S605P	probably benign	Het
Zfy1	T	G	Y: 726,205 (GRCm39)	H520P	possibly damaging	Het

Other mutations in Mcmbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Mcmbp	APN	7	128,316,209 (GRCm39)	nonsense	probably null
IGL01511:Mcmbp	APN	7	128,308,888 (GRCm39)	missense	probably damaging	1.00
IGL02351:Mcmbp	APN	7	128,311,505 (GRCm39)	critical splice donor site	probably null
IGL02358:Mcmbp	APN	7	128,311,505 (GRCm39)	critical splice donor site	probably null
IGL02470:Mcmbp	APN	7	128,306,345 (GRCm39)	missense	possibly damaging	0.94
R1390:Mcmbp	UTSW	7	128,325,865 (GRCm39)	missense	probably damaging	1.00
R1450:Mcmbp	UTSW	7	128,317,655 (GRCm39)	splice site	probably benign
R1844:Mcmbp	UTSW	7	128,325,698 (GRCm39)	missense	probably damaging	0.97
R1998:Mcmbp	UTSW	7	128,310,887 (GRCm39)	missense	probably damaging	1.00
R2926:Mcmbp	UTSW	7	128,299,738 (GRCm39)	unclassified	probably benign
R2943:Mcmbp	UTSW	7	128,325,697 (GRCm39)	missense	probably damaging	1.00
R4211:Mcmbp	UTSW	7	128,317,729 (GRCm39)	missense	possibly damaging	0.90
R4771:Mcmbp	UTSW	7	128,300,124 (GRCm39)	splice site	probably null
R4947:Mcmbp	UTSW	7	128,314,420 (GRCm39)	missense	probably damaging	1.00
R5668:Mcmbp	UTSW	7	128,314,478 (GRCm39)	missense	probably benign	0.00
R6401:Mcmbp	UTSW	7	128,308,783 (GRCm39)	missense	possibly damaging	0.91
R6520:Mcmbp	UTSW	7	128,314,451 (GRCm39)	missense	possibly damaging	0.58
R6885:Mcmbp	UTSW	7	128,326,833 (GRCm39)	splice site	probably null
R6936:Mcmbp	UTSW	7	128,326,920 (GRCm39)	nonsense	probably null
R7378:Mcmbp	UTSW	7	128,306,241 (GRCm39)	missense	probably damaging	1.00
R7476:Mcmbp	UTSW	7	128,305,306 (GRCm39)	missense	probably damaging	1.00
R8730:Mcmbp	UTSW	7	128,317,738 (GRCm39)	missense	probably damaging	1.00
R8777:Mcmbp	UTSW	7	128,308,855 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Mcmbp	UTSW	7	128,308,855 (GRCm39)	missense	probably damaging	1.00
R8917:Mcmbp	UTSW	7	128,300,281 (GRCm39)	missense	probably benign	0.00
R9377:Mcmbp	UTSW	7	128,317,803 (GRCm39)	missense	probably benign	0.31
R9527:Mcmbp	UTSW	7	128,305,242 (GRCm39)	missense	probably damaging	1.00
R9789:Mcmbp	UTSW	7	128,311,583 (GRCm39)	missense	possibly damaging	0.75
R9797:Mcmbp	UTSW	7	128,317,696 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TTGTGGCACATGCTTTAGTCAAATG -3'
(R):5'- TGTGAGACACAAGCGTTTTG -3'

Sequencing Primer
(F):5'- ACTGCCAGATCTGGCTAA -3'
(R):5'- CAAGCGTTTTGTCTCTAAATACGTG -3'

Posted On

2016-09-01