Incidental Mutation 'IGL00863:Ccny'
ID9472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccny
Ensembl Gene ENSMUSG00000024286
Gene Namecyclin Y
Synonyms5730405I09Rik, 4631402G10Rik, 1700025H17Rik, 3110050L10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL00863
Quality Score
Status
Chromosome18
Chromosomal Location9314044-9450150 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9345444 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 143 (D143E)
Ref Sequence ENSEMBL: ENSMUSP00000050001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053917]
Predicted Effect probably benign
Transcript: ENSMUST00000053917
AA Change: D143E

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: D143E

DomainStartEndE-ValueType
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Ccny
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6474:Ccny UTSW 18 9345427 missense probably damaging 1.00
R7858:Ccny UTSW 18 9386782 missense probably damaging 0.99
R7941: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
Posted On2012-12-06