Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Ccnb1'

393575

Institutional Source

Beutler Lab

Gene Symbol

Ccnb1

Ensembl Gene

ENSMUSG00000041431

Gene Name

cyclin B1

Synonyms

Ccnb1-rs13, Cycb-4

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100915247-100922994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 100918283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 121 (Q121H)

Ref Sequence

ENSEMBL: ENSMUSP00000088841 (fasta)

Gene Model

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

AlphaFold

P24860

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072119
AA Change: Q182H

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: Q182H

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

possibly damaging
Transcript: ENSMUST00000091295
AA Change: Q121H

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431
AA Change: Q121H

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 benign
Transcript: ENSMUST00000174038
AA Change: Q182H

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: Q182H

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

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,495 (GRCm39)	V781A	probably damaging	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Jph3	T	C	8: 122,479,787 (GRCm39)	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,040,790 (GRCm39)	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Wdcp	C	A	12: 4,900,617 (GRCm39)	R158S	probably damaging	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	Het

Other mutations in Ccnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Ccnb1	APN	13	100,922,419 (GRCm39)	splice site	probably benign
IGL01775:Ccnb1	APN	13	100,920,017 (GRCm39)	missense	probably benign	0.36
IGL01874:Ccnb1	APN	13	100,920,001 (GRCm39)	missense	probably damaging	1.00
IGL02108:Ccnb1	APN	13	100,917,665 (GRCm39)	critical splice donor site	probably null
IGL02170:Ccnb1	APN	13	100,919,994 (GRCm39)	nonsense	probably null
IGL02372:Ccnb1	APN	13	100,917,824 (GRCm39)	missense	probably damaging	1.00
IGL02755:Ccnb1	APN	13	100,918,168 (GRCm39)	missense	possibly damaging	0.89
IGL03142:Ccnb1	APN	13	100,920,039 (GRCm39)	missense	probably damaging	1.00
R0025:Ccnb1	UTSW	13	100,916,289 (GRCm39)	missense	probably damaging	1.00
R0499:Ccnb1	UTSW	13	100,916,642 (GRCm39)	critical splice acceptor site	probably null
R2249:Ccnb1	UTSW	13	100,917,827 (GRCm39)	missense	possibly damaging	0.79
R3108:Ccnb1	UTSW	13	100,918,132 (GRCm39)	critical splice donor site	probably null
R4934:Ccnb1	UTSW	13	100,918,209 (GRCm39)	missense	possibly damaging	0.49
R5127:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5180:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5181:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5325:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R7024:Ccnb1	UTSW	13	100,922,888 (GRCm39)	critical splice donor site	probably null
R7583:Ccnb1	UTSW	13	100,916,262 (GRCm39)	missense	probably benign	0.06
R7632:Ccnb1	UTSW	13	100,918,209 (GRCm39)	missense	probably benign	0.32
R7833:Ccnb1	UTSW	13	100,917,859 (GRCm39)	missense	probably damaging	1.00
R9634:Ccnb1	UTSW	13	100,920,112 (GRCm39)	missense	probably benign	0.01
R9769:Ccnb1	UTSW	13	100,917,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATAGAGCTACAACTGGATAACTCTC -3'
(R):5'- GAGCTGCAATAGTTCTGGCTAAC -3'

Sequencing Primer
(F):5'- TCAATTACTGAATGACACATACCTGC -3'
(R):5'- CCAGATGGTCGCTCTGTCAAC -3'

Posted On

2016-06-15