Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Ccny'

8250

Institutional Source

Beutler Lab

Gene Symbol

Ccny

Ensembl Gene

ENSMUSG00000024286

Gene Name

cyclin Y

Synonyms

1700025H17Rik, 4631402G10Rik, 5730405I09Rik, 3110050L10Rik

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9312304-9450154 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 9316682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

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

AlphaFold

Q8BGU5

Predicted Effect

probably benign
Transcript: ENSMUST00000053917

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 80.5%
3x: 72.2%
10x: 49.0%
20x: 28.4%

Validation Efficiency

90% (88/98)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Aadat	C	T	8: 60,987,605 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Borcs8	T	C	8: 70,593,017 (GRCm39)		probably benign	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Card19	A	G	13: 49,361,532 (GRCm39)	L33P	probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gria2	C	T	3: 80,615,074 (GRCm39)	G469S	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Mark2	A	T	19: 7,263,142 (GRCm39)	Y231*	probably null	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pdxdc1	A	T	16: 13,705,547 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tmem161b	C	A	13: 84,370,533 (GRCm39)		probably null	Het
Xirp2	C	A	2: 67,341,243 (GRCm39)	Y1161*	probably null	Het
Zfand4	C	A	6: 116,305,258 (GRCm39)	T705K	probably damaging	Het

Other mutations in Ccny

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ccny	APN	18	9,345,444 (GRCm39)	missense	probably benign	0.18
IGL01986:Ccny	APN	18	9,377,817 (GRCm39)	missense	probably damaging	1.00
IGL03000:Ccny	APN	18	9,353,489 (GRCm39)	missense	probably benign	0.12
IGL03257:Ccny	APN	18	9,386,747 (GRCm39)	missense	possibly damaging	0.84
R0015:Ccny	UTSW	18	9,316,682 (GRCm39)	splice site	probably benign
R0372:Ccny	UTSW	18	9,345,201 (GRCm39)	missense	probably damaging	1.00
R0440:Ccny	UTSW	18	9,332,917 (GRCm39)	missense	probably benign	0.21
R1645:Ccny	UTSW	18	9,345,199 (GRCm39)	missense	probably damaging	0.99
R2044:Ccny	UTSW	18	9,449,644 (GRCm39)	missense	probably damaging	1.00
R2405:Ccny	UTSW	18	9,353,480 (GRCm39)	missense	probably benign	0.08
R3847:Ccny	UTSW	18	9,449,641 (GRCm39)	missense	probably benign	0.37
R3864:Ccny	UTSW	18	9,449,604 (GRCm39)	missense	probably damaging	1.00
R4198:Ccny	UTSW	18	9,332,928 (GRCm39)	missense	probably damaging	0.96
R4964:Ccny	UTSW	18	9,449,516 (GRCm39)	critical splice donor site	probably null
R6474:Ccny	UTSW	18	9,345,427 (GRCm39)	missense	probably damaging	1.00
R7858:Ccny	UTSW	18	9,386,782 (GRCm39)	missense	probably damaging	0.99
R8889:Ccny	UTSW	18	9,345,235 (GRCm39)	missense	probably damaging	1.00
R8892:Ccny	UTSW	18	9,345,235 (GRCm39)	missense	probably damaging	1.00
R9004:Ccny	UTSW	18	9,332,883 (GRCm39)	missense	possibly damaging	0.74
X0050:Ccny	UTSW	18	9,332,874 (GRCm39)	missense	possibly damaging	0.87
Z1177:Ccny	UTSW	18	9,353,494 (GRCm39)	missense	probably benign

Posted On

2012-11-21