Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Ccny'

277463

Institutional Source

Beutler Lab

Gene Symbol

Ccny

Ensembl Gene

ENSMUSG00000024286

Gene Name

cyclin Y

Synonyms

5730405I09Rik, 4631402G10Rik, 1700025H17Rik, 3110050L10Rik

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9314044-9450150 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9449641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 11 (S11P)

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

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

AlphaFold

Q8BGU5

Predicted Effect

probably benign
Transcript: ENSMUST00000053917
AA Change: S11P

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: S11P

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

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		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
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
R6474:Ccny	UTSW	18	9345427	missense	probably damaging	1.00
R7858:Ccny	UTSW	18	9386782	missense	probably damaging	0.99
R8889:Ccny	UTSW	18	9345235	missense	probably damaging	1.00
R8892:Ccny	UTSW	18	9345235	missense	probably damaging	1.00
R9004:Ccny	UTSW	18	9332883	missense	possibly damaging	0.74
X0050:Ccny	UTSW	18	9332874	missense	possibly damaging	0.87
Z1177:Ccny	UTSW	18	9353494	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTAGCAAAATTTCCACCATTCC -3'
(R):5'- CGCTGAACAAGAACACGGTG -3'

Sequencing Primer
(F):5'- AAGGCTCCGAGTCCTGCAG -3'
(R):5'- CTGTCGGTAGCTGTAGCCG -3'

Posted On

2015-04-06