Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Ccnb1'

290975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnb1

Ensembl Gene

ENSMUSG00000041431

Gene Name

cyclin B1

Synonyms

Ccnb1-rs13, Cycb-4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

100778650-100786570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100781316 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 259 (Y259H)

Ref Sequence

ENSEMBL: ENSMUSP00000071989 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072119
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: Y259H

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 damaging
Transcript: ENSMUST00000091295
AA Change: Y198H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431
AA Change: Y198H

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 damaging
Transcript: ENSMUST00000174038
AA Change: Y259H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: Y259H

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	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
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
R3108:Ccnb1	UTSW	13	100781624	critical splice donor site	probably null
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

Posted On

2015-04-16