Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03000:Ccny'

407267

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccny

Ensembl Gene

ENSMUSG00000024286

Gene Name

cyclin Y

Synonyms

1700025H17Rik, 4631402G10Rik, 5730405I09Rik, 3110050L10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

9312304-9450154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9353489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 95 (S95P)

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

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

AlphaFold

Q8BGU5

Predicted Effect

probably benign
Transcript: ENSMUST00000053917
AA Change: S95P

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: S95P

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,360,959 (GRCm39)	S445G	probably benign	Het
Abca5	C	T	11: 110,208,640 (GRCm39)	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,611,239 (GRCm39)	D367E	probably benign	Het
Bmp6	G	T	13: 38,682,887 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Cblb	T	G	16: 52,024,905 (GRCm39)	D933E	probably damaging	Het
Cep192	A	G	18: 67,985,115 (GRCm39)	I1658V	probably damaging	Het
Cntn6	A	T	6: 104,781,347 (GRCm39)	T478S	probably damaging	Het
Cpne7	T	C	8: 123,853,435 (GRCm39)	F247L	probably benign	Het
Csf1r	A	G	18: 61,242,724 (GRCm39)	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912 (GRCm39)	I65F	possibly damaging	Het
Dock1	A	G	7: 134,390,969 (GRCm39)	E743G	probably benign	Het
Dus2	C	A	8: 106,775,316 (GRCm39)	T281N	probably damaging	Het
Gbx1	G	T	5: 24,709,924 (GRCm39)	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,223,745 (GRCm39)	N93I	probably benign	Het
Heatr1	A	G	13: 12,449,292 (GRCm39)	D1930G	probably damaging	Het
Hif3a	T	C	7: 16,782,564 (GRCm39)	I334V	probably benign	Het
Ints1	G	T	5: 139,752,261 (GRCm39)	N756K	probably benign	Het
Kcnn2	T	C	18: 45,693,635 (GRCm39)	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,489,170 (GRCm39)	R4590W	probably damaging	Het
Limk1	A	T	5: 134,699,355 (GRCm39)	V134E	probably damaging	Het
Mep1a	A	G	17: 43,785,881 (GRCm39)	V736A	probably benign	Het
Mex3a	T	A	3: 88,443,602 (GRCm39)	I226N	probably damaging	Het
Mgl2	A	T	11: 70,025,026 (GRCm39)	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161 (GRCm39)	V864L	probably damaging	Het
Mroh4	T	A	15: 74,487,963 (GRCm39)	M320L	probably benign	Het
Mylk3	G	A	8: 86,085,806 (GRCm39)	P243S	probably damaging	Het
Nbea	A	C	3: 55,912,048 (GRCm39)	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,680,299 (GRCm39)	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,549,247 (GRCm39)		probably benign	Het
Or6k8-ps1	A	G	1: 173,979,126 (GRCm39)	T15A	probably benign	Het
Ptprq	A	T	10: 107,378,518 (GRCm39)	F2008I	probably damaging	Het
Rhag	A	G	17: 41,139,413 (GRCm39)	K116R	probably benign	Het
Rictor	T	A	15: 6,798,721 (GRCm39)		probably benign	Het
Slc35f5	C	A	1: 125,502,479 (GRCm39)	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,222,675 (GRCm39)		probably benign	Het
Ssh2	T	A	11: 77,312,032 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,024,365 (GRCm39)	S830P	probably benign	Het
Trim30d	T	C	7: 104,122,476 (GRCm39)	T112A	probably benign	Het
Ttc34	T	C	4: 154,949,888 (GRCm39)	V947A	probably damaging	Het
Ttn	A	G	2: 76,642,953 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,025,096 (GRCm39)	V560D	probably damaging	Het
Ush2a	A	T	1: 188,282,053 (GRCm39)	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,612,777 (GRCm39)	M457V	probably benign	Het
Zfp711	C	T	X: 111,534,555 (GRCm39)	Q137*	probably null	Het
Zkscan17	T	C	11: 59,377,986 (GRCm39)	Y399C	probably damaging	Het
Zswim6	T	G	13: 107,863,649 (GRCm39)		noncoding transcript	Het
Zswim6	T	A	13: 107,863,650 (GRCm39)		noncoding transcript	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
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
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

2016-08-02