Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01986:Ccny'

181908

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: 0.182) question?

Stock #

IGL01986

Quality Score

Status

Chromosome

Chromosomal Location

9312304-9450154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9377817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 81 (R81C)

Ref Sequence

ENSEMBL: ENSMUSP00000050001 (fasta)

Gene Model

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

AlphaFold

Q8BGU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053917
AA Change: R81C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: R81C

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	T	2: 152,282,956 (GRCm39)	I245F	possibly damaging	Het
Abca3	G	A	17: 24,627,088 (GRCm39)	G1263D	probably damaging	Het
Arap2	A	T	5: 62,779,265 (GRCm39)	S1442T	probably damaging	Het
Arl15	C	A	13: 114,058,902 (GRCm39)	S56R	possibly damaging	Het
Ccdc38	A	T	10: 93,415,705 (GRCm39)	N415Y	probably damaging	Het
Cracd	T	A	5: 77,006,457 (GRCm39)	S939R	unknown	Het
Csmd3	T	C	15: 47,522,591 (GRCm39)	T2693A	possibly damaging	Het
Fancm	C	T	12: 65,173,429 (GRCm39)	Q1914*	probably null	Het
Fcsk	T	C	8: 111,609,889 (GRCm39)	T1042A	probably benign	Het
Gm18856	G	A	13: 14,139,413 (GRCm39)		probably benign	Het
Gramd1a	A	T	7: 30,833,434 (GRCm39)	L610Q	possibly damaging	Het
Hsd17b4	C	A	18: 50,293,193 (GRCm39)		probably benign	Het
Hspa12a	A	G	19: 58,787,834 (GRCm39)	S663P	probably benign	Het
Insr	C	T	8: 3,208,817 (GRCm39)	V1215I	probably damaging	Het
Kdr	A	G	5: 76,113,519 (GRCm39)	V783A	probably benign	Het
Klhl9	T	C	4: 88,640,016 (GRCm39)	D75G	probably damaging	Het
Lmntd1	A	G	6: 145,365,533 (GRCm39)	S53P	probably damaging	Het
Lrrc41	T	A	4: 115,946,519 (GRCm39)	F411L	probably benign	Het
Lyst	G	A	13: 13,950,212 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,673,692 (GRCm39)	H257R	probably damaging	Het
Nkiras1	G	A	14: 18,280,071 (GRCm38)	R154Q	probably damaging	Het
Or10ag2	A	G	2: 87,248,880 (GRCm39)	I163V	probably benign	Het
Or2b4	A	G	17: 38,116,957 (GRCm39)	K307R	probably damaging	Het
Or4p21	C	T	2: 88,276,839 (GRCm39)	V148I	probably benign	Het
Or8s16	T	C	15: 98,210,660 (GRCm39)	Y257C	probably damaging	Het
Pcsk6	G	A	7: 65,577,625 (GRCm39)	R60H	probably damaging	Het
Polk	T	C	13: 96,620,331 (GRCm39)	D623G	probably benign	Het
Rlf	A	T	4: 121,005,303 (GRCm39)	C1226S	probably damaging	Het
Rpa2	C	T	4: 132,499,191 (GRCm39)	P87S	probably benign	Het
Rpa2	C	T	4: 132,499,192 (GRCm39)	P87L	probably benign	Het
Sema5a	T	C	15: 32,682,506 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,852,545 (GRCm39)	M529K	probably damaging	Het
Sspo	T	C	6: 48,460,237 (GRCm39)	M3375T	probably benign	Het
Syne3	A	T	12: 104,934,259 (GRCm39)	L83Q	probably damaging	Het
Tec	A	T	5: 72,939,348 (GRCm39)	Y222*	probably null	Het
Tfap2d	C	T	1: 19,189,383 (GRCm39)		probably benign	Het
Trak1	G	A	9: 121,302,033 (GRCm39)	A930T	probably benign	Het
Ugt2b34	G	T	5: 87,049,111 (GRCm39)	H305N	probably benign	Het
Vmn2r95	A	G	17: 18,660,473 (GRCm39)	N295S	probably benign	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
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
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

2014-05-07