Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Ccnb1'

263679

Institutional Source

Beutler Lab

Gene Symbol

Ccnb1

Ensembl Gene

ENSMUSG00000041431

Gene Name

cyclin B1

Synonyms

Ccnb1-rs13, Cycb-4

MMRRC Submission

040582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100778650-100786570 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 100781624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072119] [ENSMUST00000091295] [ENSMUST00000174038] [ENSMUST00000174038]

AlphaFold

P24860

Predicted Effect

probably null
Transcript: ENSMUST00000072119

SMART Domains

Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
CYCLIN	204	288	3.88e-26	SMART
Cyclin_C	297	415	4.18e-37	SMART
CYCLIN	301	382	3.65e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091295

SMART Domains

Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
CYCLIN	143	227	3.88e-26	SMART
Cyclin_C	236	354	4.18e-37	SMART
CYCLIN	240	321	3.65e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147790

Predicted Effect

probably null
Transcript: ENSMUST00000174038

SMART Domains

Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
CYCLIN	204	288	3.88e-26	SMART
Cyclin_C	297	378	3.18e-10	SMART
CYCLIN	301	384	8.4e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174038

SMART Domains

Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
CYCLIN	204	288	3.88e-26	SMART
Cyclin_C	297	378	3.18e-10	SMART
CYCLIN	301	384	8.4e-13	SMART

Meta Mutation Damage Score

0.9600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Igkv11-125	T	C	6: 67,913,871	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Nkpd1	G	A	7: 19,522,978	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,853,841	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp169	A	G	13: 48,489,996	S552P	possibly damaging	Het
Zfp229	T	A	17: 21,746,816	C676S	probably damaging	Het

Other mutations in Ccnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Ccnb1	APN	13	100785911	splice site	probably benign
IGL01775:Ccnb1	APN	13	100783509	missense	probably benign	0.36
IGL01874:Ccnb1	APN	13	100783493	missense	probably damaging	1.00
IGL02108:Ccnb1	APN	13	100781157	critical splice donor site	probably null
IGL02170:Ccnb1	APN	13	100783486	nonsense	probably null
IGL02372:Ccnb1	APN	13	100781316	missense	probably damaging	1.00
IGL02755:Ccnb1	APN	13	100781660	missense	possibly damaging	0.89
IGL03142:Ccnb1	APN	13	100783531	missense	probably damaging	1.00
R0025:Ccnb1	UTSW	13	100779781	missense	probably damaging	1.00
R0499:Ccnb1	UTSW	13	100780134	critical splice acceptor site	probably null
R2249:Ccnb1	UTSW	13	100781319	missense	possibly damaging	0.79
R4934:Ccnb1	UTSW	13	100781701	missense	possibly damaging	0.49
R5126:Ccnb1	UTSW	13	100781775	missense	possibly damaging	0.88
R5127:Ccnb1	UTSW	13	100781775	missense	possibly damaging	0.88
R5180:Ccnb1	UTSW	13	100781775	missense	possibly damaging	0.88
R5181:Ccnb1	UTSW	13	100781775	missense	possibly damaging	0.88
R5325:Ccnb1	UTSW	13	100781775	missense	possibly damaging	0.88
R7024:Ccnb1	UTSW	13	100786380	critical splice donor site	probably null
R7583:Ccnb1	UTSW	13	100779754	missense	probably benign	0.06
R7632:Ccnb1	UTSW	13	100781701	missense	probably benign	0.32
R7833:Ccnb1	UTSW	13	100781351	missense	probably damaging	1.00
R9634:Ccnb1	UTSW	13	100783604	missense	probably benign	0.01
R9769:Ccnb1	UTSW	13	100780885	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTACCTCCCAAGAAAGGATTCAG -3'
(R):5'- GGTCTTTATGGACACCGATGG -3'

Sequencing Primer
(F):5'- CTCCCAAGAAAGGATTCAGTTTCAGG -3'
(R):5'- CTTTATGGACACCGATGGTAGATG -3'

Posted On

2015-02-05