Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Mcmbp'

540302

Institutional Source

Beutler Lab

Gene Symbol

Mcmbp

Ensembl Gene

ENSMUSG00000048170

Gene Name

minichromosome maintenance complex binding protein

Synonyms

1110007A13Rik

MMRRC Submission

045050-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128298165-128342153 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 128326920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 21 (Q21*)

Ref Sequence

ENSEMBL: ENSMUSP00000113961 (fasta)

Gene Model

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

AlphaFold

Q8R3C0

Predicted Effect

probably null
Transcript: ENSMUST00000057557
AA Change: Q21*

SMART Domains

Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: Q21*

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 null
Transcript: ENSMUST00000119081
AA Change: Q21*

SMART Domains

Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: Q21*

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,568 (GRCm39)	I2772F	probably damaging	Het
Adam1a	A	G	5: 121,657,425 (GRCm39)	C623R	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ak4	C	T	4: 101,304,456 (GRCm39)	A82V	probably benign	Het
Arhgap10	A	T	8: 78,037,376 (GRCm39)	C617*	probably null	Het
Art1	A	T	7: 101,755,977 (GRCm39)	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,606,057 (GRCm39)	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,484,698 (GRCm39)	S123P	probably damaging	Het
Cabin1	A	T	10: 75,551,592 (GRCm39)		probably null	Het
Carmil3	G	A	14: 55,739,018 (GRCm39)	E891K	probably benign	Het
Cbfa2t3	C	G	8: 123,374,478 (GRCm39)	R89P	probably damaging	Het
Ccdc157	A	G	11: 4,094,030 (GRCm39)	S534P	probably benign	Het
Cep72	A	T	13: 74,188,206 (GRCm39)	I229N	probably damaging	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Cyp2c70	A	G	19: 40,156,007 (GRCm39)	V181A	probably damaging	Het
Cyp2d26	C	T	15: 82,676,741 (GRCm39)	D202N	probably benign	Het
Dbh	A	G	2: 27,062,809 (GRCm39)	K343E	probably benign	Het
Dlx5	A	G	6: 6,879,585 (GRCm39)	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,414 (GRCm39)	I3611F	probably damaging	Het
Egf	A	C	3: 129,474,853 (GRCm39)	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,527,237 (GRCm39)	H650R	probably benign	Het
Exoc6	A	G	19: 37,560,311 (GRCm39)	I109M	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgg	C	T	3: 82,915,727 (GRCm39)	S56F	possibly damaging	Het
Fras1	A	G	5: 96,916,211 (GRCm39)	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,426,474 (GRCm39)	I177V	probably benign	Het
Gm1979	A	T	5: 26,207,028 (GRCm39)	H62Q	probably benign	Het
Gpatch2	A	G	1: 186,965,433 (GRCm39)	D313G	probably benign	Het
Gtf2i	C	T	5: 134,271,639 (GRCm39)	E823K	probably damaging	Het
Hook2	C	A	8: 85,729,627 (GRCm39)	T689N	probably benign	Het
Hrnr	A	T	3: 93,239,667 (GRCm39)	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,035,785 (GRCm39)	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,529,337 (GRCm39)	I800F	probably damaging	Het
Mmp21	T	C	7: 133,280,704 (GRCm39)	K89E	probably benign	Het
Or4b13	A	G	2: 90,082,678 (GRCm39)	V218A	probably benign	Het
Or52r1c	A	T	7: 102,735,021 (GRCm39)	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,820,458 (GRCm39)	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,832,997 (GRCm39)	T169A	probably damaging	Het
Sec31a	T	C	5: 100,540,369 (GRCm39)	N35S	probably benign	Het
Serpinb5	A	T	1: 106,798,148 (GRCm39)	T46S	probably benign	Het
Svs5	A	G	2: 164,079,548 (GRCm39)	S120P	possibly damaging	Het
Tbpl2	T	C	2: 23,984,953 (GRCm39)	T64A	probably benign	Het
Tecpr2	T	A	12: 110,911,297 (GRCm39)	H1111Q	possibly damaging	Het
Tm9sf3	A	G	19: 41,211,638 (GRCm39)	F402L	probably benign	Het
Tmem120b	T	G	5: 123,254,287 (GRCm39)	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,231,577 (GRCm39)	T133A	possibly damaging	Het
Ubqln3	A	T	7: 103,791,517 (GRCm39)	V191D	probably damaging	Het
Ubr2	T	C	17: 47,283,957 (GRCm39)	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably 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
R5428:Mcmbp	UTSW	7	128,306,248 (GRCm39)	missense	probably benign	0.28
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
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'- TGGAAGAGCTGTATGCACTC -3'
(R):5'- CTCAGTGGTTAATGGCAGGG -3'

Sequencing Primer
(F):5'- CACTGCGCTACTTCTAGTCACG -3'
(R):5'- AAGCAGCCTGGGTTTGC -3'

Posted On

2018-11-06