Incidental Mutation 'IGL02865:Ccni'
ID362319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccni
Ensembl Gene ENSMUSG00000063015
Gene Namecyclin I
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02865
Quality Score
Status
Chromosome5
Chromosomal Location93181933-93206495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93183336 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 135 (V135I)
Ref Sequence ENSEMBL: ENSMUSP00000143972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058550] [ENSMUST00000151568] [ENSMUST00000201823]
Predicted Effect probably benign
Transcript: ENSMUST00000058550
AA Change: V259I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000050189
Gene: ENSMUSG00000063015
AA Change: V259I

DomainStartEndE-ValueType
CYCLIN 50 136 1.18e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123033
Predicted Effect probably benign
Transcript: ENSMUST00000151568
SMART Domains Protein: ENSMUSP00000116224
Gene: ENSMUSG00000063015

DomainStartEndE-ValueType
CYCLIN 50 136 1.18e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201581
Predicted Effect probably benign
Transcript: ENSMUST00000201823
AA Change: V135I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143972
Gene: ENSMUSG00000063015
AA Change: V135I

DomainStartEndE-ValueType
CYCLIN 3 89 7.4e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202150
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,517,940 E293G probably benign Het
Avl9 C A 6: 56,736,873 T372N probably damaging Het
Dnah17 A G 11: 118,073,548 F2481S probably damaging Het
Dnajc10 A G 2: 80,331,303 D295G probably benign Het
Homer2 A G 7: 81,610,332 F265S probably damaging Het
Hsp90aa1 A G 12: 110,693,082 V476A probably benign Het
Jarid2 T C 13: 44,910,560 L855P probably damaging Het
Kif26a T A 12: 112,177,615 C1434* probably null Het
Lpo A G 11: 87,806,977 V668A possibly damaging Het
Med12l T C 3: 59,294,292 Y1973H probably damaging Het
Mep1b C A 18: 21,093,384 H434Q probably benign Het
Ngly1 T A 14: 16,290,939 probably benign Het
Ptprn A T 1: 75,262,363 F9L probably damaging Het
Sema6d T A 2: 124,664,073 N600K probably damaging Het
Slc1a1 C A 19: 28,905,338 A334E probably damaging Het
Son A G 16: 91,651,752 E67G probably damaging Het
Tpmt T C 13: 47,025,402 Y229C probably benign Het
Vmn2r23 A T 6: 123,741,619 I644F probably damaging Het
Whrn T C 4: 63,415,492 M906V probably benign Het
Zfp938 A T 10: 82,226,192 F198Y probably benign Het
Other mutations in Ccni
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02301:Ccni APN 5 93188175 missense possibly damaging 0.77
IGL02545:Ccni APN 5 93187777 missense probably benign 0.01
R0234:Ccni UTSW 5 93202327 missense probably benign 0.02
R0234:Ccni UTSW 5 93202327 missense probably benign 0.02
R0541:Ccni UTSW 5 93187704 missense probably benign 0.00
R0718:Ccni UTSW 5 93202316 missense probably benign 0.00
R0760:Ccni UTSW 5 93183329 missense possibly damaging 0.89
R1656:Ccni UTSW 5 93188074 splice site probably null
R1752:Ccni UTSW 5 93202456 start gained probably benign
R1817:Ccni UTSW 5 93188108 missense possibly damaging 0.89
R3551:Ccni UTSW 5 93187761 missense probably benign 0.05
R3552:Ccni UTSW 5 93187761 missense probably benign 0.05
R3956:Ccni UTSW 5 93183404 missense probably damaging 1.00
R4809:Ccni UTSW 5 93187570 intron probably benign
R4901:Ccni UTSW 5 93183144 missense probably damaging 1.00
R4937:Ccni UTSW 5 93188254 splice site probably null
R4975:Ccni UTSW 5 93187694 missense possibly damaging 0.83
R7120:Ccni UTSW 5 93183331 nonsense probably null
Posted On2015-12-18