Mutagenetix > Incidental Mutations

Incidental Mutation 'R6474:Ccny'

516750

Institutional Source

Beutler Lab

Gene Symbol

Ccny

Ensembl Gene

ENSMUSG00000024286

Gene Name

cyclin Y

Synonyms

5730405I09Rik, 4631402G10Rik, 1700025H17Rik, 3110050L10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6474 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9314044-9450150 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9345427 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 149 (L149H)

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053917
AA Change: L149H

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

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: L149H

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

Meta Mutation Damage Score

0.1717

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,461,715	N90Y	probably damaging	Het
Alkal1	T	C	1: 6,389,446	V82A	probably damaging	Het
Ascc3	T	C	10: 50,748,836	S1607P	probably benign	Het
Clptm1	T	C	7: 19,635,837	N383D	possibly damaging	Het
Clrn2	T	A	5: 45,463,732	M156K	probably benign	Het
Coro2b	T	A	9: 62,426,628	H328L	probably benign	Het
Echs1	A	T	7: 140,108,142	M250K	probably benign	Het
Ecsit	A	G	9: 22,074,685	V145A	possibly damaging	Het
Fas	G	A	19: 34,316,569	G108D	probably damaging	Het
Folh1	A	G	7: 86,775,756	W2R	probably damaging	Het
Gba	C	T	3: 89,204,081	P51L	probably benign	Het
Grik2	C	T	10: 49,132,680	M770I	probably benign	Het
Hcst	T	C	7: 30,417,825	N74S	probably damaging	Het
Hdac9	T	A	12: 34,431,991		probably null	Het
Hsfy2	T	A	1: 56,636,991	D129V	probably damaging	Het
Htt	T	C	5: 34,824,895	V941A	probably benign	Het
Naip5	A	G	13: 100,214,663	V1279A	possibly damaging	Het
Neb	T	A	2: 52,280,612	M1683L	probably benign	Het
Nudt21	C	T	8: 94,019,654	V139I	probably benign	Het
Olfr513	T	C	7: 108,755,029	Y58H	probably damaging	Het
Pex2	A	G	3: 5,561,131	F206S	probably damaging	Het
Plek2	C	A	12: 78,896,291	R77L	probably benign	Het
Ppfia1	A	T	7: 144,506,205	D623E	possibly damaging	Het
Ppm1l	T	A	3: 69,553,041	I317N	probably damaging	Het
Prkacb	T	A	3: 146,755,724	T36S	probably damaging	Het
Sphkap	T	A	1: 83,278,823	I115F	probably damaging	Het
Sprtn	G	T	8: 124,899,134	E95*	probably null	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tcap	C	A	11: 98,384,177	Q46K	probably benign	Het
Thada	T	C	17: 84,443,911	I546V	possibly damaging	Het
Tubal3	T	A	13: 3,933,107	S296T	probably benign	Het
Ube3a	A	G	7: 59,287,024	N683D	probably damaging	Het
Vmn2r82	T	G	10: 79,379,037	L285V	possibly damaging	Het
Zfp871	T	C	17: 32,775,673	D157G	possibly damaging	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
R4198:Ccny	UTSW	18	9332928	missense	probably damaging	0.96
R4964:Ccny	UTSW	18	9449516	critical splice donor site	probably null
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'- TAAGAGTCTCTGCTGCTCACAC -3'
(R):5'- GCTGTACTTAAGAATACCAGAAATGCC -3'

Sequencing Primer
(F):5'- TGGCACATTCAGCTGTCAG -3'
(R):5'- CCAGAAATGCCTCTTAAATTTAGCAC -3'

Posted On

2018-05-21