Mutagenetix > Incidental Mutations

Incidental Mutation 'R4198:Ccny'

318656

Institutional Source

Beutler Lab

Gene Symbol

Ccny

Ensembl Gene

ENSMUSG00000024286

Gene Name

cyclin Y

Synonyms

5730405I09Rik, 4631402G10Rik, 1700025H17Rik, 3110050L10Rik

MMRRC Submission

041640-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9314044-9450150 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9332928 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 201 (T201I)

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053917]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053917
AA Change: T201I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: T201I

Domain	Start	End	E-Value	Type
CYCLIN	173	258	1.36e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired adipogenesis and lipid production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,085,607	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,342,603	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,623,913	A194V	probably damaging	Het
Atp10a	A	G	7: 58,813,686	D989G	probably damaging	Het
Cdca5	T	C	19: 6,090,352	V181A	possibly damaging	Het
Ces1g	A	G	8: 93,305,868	I488T	probably benign	Het
Csmd2	A	G	4: 128,510,924	T2368A	probably benign	Het
Cux1	T	A	5: 136,286,848	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,922,838	G4033D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxg1	T	A	12: 49,385,299	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,826,634	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,863,860	L121R	probably damaging	Het
Hyou1	G	A	9: 44,388,859	R815H	probably damaging	Het
Kera	T	C	10: 97,612,973	*352Q	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnpk	T	C	2: 74,569,109	E30G	probably damaging	Het
Map2	C	T	1: 66,425,298	R128C	probably damaging	Het
Olfr1357	A	T	10: 78,612,067	D191E	possibly damaging	Het
Olfr1381	G	A	11: 49,552,634	V296M	possibly damaging	Het
Olfr573-ps1	A	G	7: 102,941,797	F260S	probably damaging	Het
Olfr97	T	A	17: 37,232,134	M79L	probably benign	Het
Ror2	A	G	13: 53,110,644	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,202,674		probably null	Het
Serpinb9d	A	G	13: 33,202,965	I339V	probably benign	Het
Slc1a1	A	G	19: 28,901,452	K197R	probably benign	Het
Snx20	A	G	8: 88,627,598	V168A	possibly damaging	Het
Sowaha	T	C	11: 53,478,568	E447G	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 99,066,508		probably benign	Het
Stx19	G	T	16: 62,822,676	C285F	possibly damaging	Het
Syp	A	G	X: 7,639,927		probably null	Het
Tbkbp1	C	T	11: 97,149,068		probably null	Het
Trim29	G	T	9: 43,311,380	E169*	probably null	Het
Ttll12	T	C	15: 83,577,013	N602D	probably damaging	Het
Zfp26	T	C	9: 20,436,716	T851A	probably benign	Het
Zfp316	T	C	5: 143,254,471	M598V	probably benign	Het
Zhx2	A	G	15: 57,821,729	I165V	probably benign	Het

Other mutations in Ccny

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ccny	APN	18	9345444	missense	probably benign	0.18
IGL01986:Ccny	APN	18	9377817	missense	probably damaging	1.00
IGL03000:Ccny	APN	18	9353489	missense	probably benign	0.12
IGL03257:Ccny	APN	18	9386747	missense	possibly damaging	0.84
R0015:Ccny	UTSW	18	9316682	splice site	probably benign
R0015:Ccny	UTSW	18	9316682	splice site	probably benign
R0372:Ccny	UTSW	18	9345201	missense	probably damaging	1.00
R0440:Ccny	UTSW	18	9332917	missense	probably benign	0.21
R1645:Ccny	UTSW	18	9345199	missense	probably damaging	0.99
R2044:Ccny	UTSW	18	9449644	missense	probably damaging	1.00
R2405:Ccny	UTSW	18	9353480	missense	probably benign	0.08
R3847:Ccny	UTSW	18	9449641	missense	probably benign	0.37
R3864:Ccny	UTSW	18	9449604	missense	probably damaging	1.00
R4964:Ccny	UTSW	18	9449516	critical splice donor site	probably null
R6474:Ccny	UTSW	18	9345427	missense	probably damaging	1.00
R7858:Ccny	UTSW	18	9386782	missense	probably damaging	0.99
X0050:Ccny	UTSW	18	9332874	missense	possibly damaging	0.87
Z1177:Ccny	UTSW	18	9353494	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACCACCCCAAATAGGCATGG -3'
(R):5'- GTCAGTACCTTTGCCATTGC -3'

Sequencing Primer
(F):5'- ATGGTATCCCCGGAACTTACATG -3'
(R):5'- ACCTTTGCCATTGCTCTTATAAATG -3'

Posted On

2015-06-10