Incidental Mutation 'IGL03310:Ccna1'
ID416522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccna1
Ensembl Gene ENSMUSG00000027793
Gene Namecyclin A1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.346) question?
Stock #IGL03310
Quality Score
Status
Chromosome3
Chromosomal Location55045469-55055501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55050620 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000142706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029368] [ENSMUST00000197238] [ENSMUST00000198102] [ENSMUST00000198320] [ENSMUST00000199144] [ENSMUST00000199352]
Predicted Effect probably benign
Transcript: ENSMUST00000029368
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: T155A

DomainStartEndE-ValueType
CYCLIN 205 289 1.5e-32 SMART
Cyclin_C 298 415 2.8e-39 SMART
CYCLIN 302 384 1.5e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197238
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: T155A

DomainStartEndE-ValueType
CYCLIN 205 289 1.5e-32 SMART
Cyclin_C 298 415 2.7e-39 SMART
CYCLIN 302 384 1.5e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198102
AA Change: T7A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793
AA Change: T7A

DomainStartEndE-ValueType
CYCLIN 57 141 1.5e-32 SMART
Cyclin_C 150 250 3.6e-10 SMART
CYCLIN 154 238 2.2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198320
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: T155A

DomainStartEndE-ValueType
CYCLIN 205 289 1.5e-32 SMART
Cyclin_C 298 415 2.7e-39 SMART
CYCLIN 302 384 1.5e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199144
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000199352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199770
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. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are infertile due to the arrest of spermatogenesis prior to the first meiotic division. Female mutant mice are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C T 9: 70,778,089 R749C probably damaging Het
Atp9a A G 2: 168,639,959 F872L probably damaging Het
Cacna1e A C 1: 154,442,251 Y1462D probably damaging Het
Ces1d A G 8: 93,175,188 probably benign Het
Cmtm8 A T 9: 114,790,726 V117D probably benign Het
Cnot1 A G 8: 95,735,680 probably benign Het
Col24a1 A T 3: 145,313,983 probably benign Het
Crispld1 T C 1: 17,745,477 probably benign Het
Dnaja2 A T 8: 85,548,905 N140K probably benign Het
Fktn A T 4: 53,720,120 K6* probably null Het
Fryl C A 5: 73,136,316 probably benign Het
Gm5117 T A 8: 31,738,808 noncoding transcript Het
Gucy2c A C 6: 136,751,046 S319R probably benign Het
Helz2 G A 2: 181,231,804 A2299V probably benign Het
Hivep2 T C 10: 14,143,667 S2061P probably damaging Het
Irx4 A G 13: 73,267,731 N213S possibly damaging Het
Mark3 A G 12: 111,647,670 T649A probably benign Het
Nav3 C T 10: 109,824,572 probably null Het
Npr1 C T 3: 90,455,991 E861K probably benign Het
Olfr1441 T C 19: 12,422,927 V206A probably benign Het
Olfr68 A C 7: 103,777,427 V306G probably benign Het
Pcdhb10 C T 18: 37,412,321 T150I probably damaging Het
Sdk2 A G 11: 113,793,325 C2009R possibly damaging Het
Tcrg-V7 A G 13: 19,178,494 probably benign Het
Ttc16 T C 2: 32,762,397 probably benign Het
Ttc39b T A 4: 83,247,659 Y230F probably benign Het
Ubr1 A T 2: 120,864,417 I1678N probably damaging Het
Other mutations in Ccna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ccna1 APN 3 55050655 missense probably damaging 1.00
IGL00341:Ccna1 APN 3 55050655 missense probably damaging 1.00
IGL02484:Ccna1 APN 3 55048494 missense probably benign 0.08
IGL02649:Ccna1 APN 3 55054386 missense probably damaging 1.00
IGL03382:Ccna1 APN 3 55047277 missense probably damaging 1.00
R0127:Ccna1 UTSW 3 55049748 missense probably damaging 1.00
R0195:Ccna1 UTSW 3 55054364 missense probably damaging 0.99
R0219:Ccna1 UTSW 3 55050927 missense probably benign 0.00
R0255:Ccna1 UTSW 3 55050628 missense probably damaging 1.00
R0492:Ccna1 UTSW 3 55048583 missense probably damaging 0.98
R1102:Ccna1 UTSW 3 55050860 missense probably damaging 1.00
R1378:Ccna1 UTSW 3 55049729 missense probably damaging 1.00
R3724:Ccna1 UTSW 3 55050932 missense probably damaging 0.99
R3799:Ccna1 UTSW 3 55050619 missense probably benign 0.24
R4199:Ccna1 UTSW 3 55047315 missense possibly damaging 0.85
R4992:Ccna1 UTSW 3 55049890 missense probably damaging 0.97
R5465:Ccna1 UTSW 3 55045644 missense probably benign 0.00
R5560:Ccna1 UTSW 3 55048569 missense probably damaging 1.00
R5603:Ccna1 UTSW 3 55050909 missense probably damaging 1.00
R6764:Ccna1 UTSW 3 55046078 missense probably damaging 1.00
R7034:Ccna1 UTSW 3 55046039 missense possibly damaging 0.67
R7144:Ccna1 UTSW 3 55045699 missense probably benign
Posted On2016-08-02