Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Ccnb1'

397566

Institutional Source

Beutler Lab

Gene Symbol

Ccnb1

Ensembl Gene

ENSMUSG00000041431

Gene Name

cyclin B1

Synonyms

Ccnb1-rs13, Cycb-4

MMRRC Submission

042761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5181 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,764,937 (GRCm39)	D642E	probably benign	Het
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Colq	T	A	14: 31,279,799 (GRCm39)	H9L	probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Phip	A	G	9: 82,753,243 (GRCm39)		probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Xylb	T	A	9: 119,193,567 (GRCm39)	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zfp503	C	A	14: 22,035,705 (GRCm39)	A404S	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	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
R5126:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
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
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'- TCATAGAGCTACAACTGGATAACTC -3'
(R):5'- GAGCTGCAATAGTTCTGGCTAAC -3'

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

Posted On

2016-07-06