Incidental Mutation 'IGL00340:Ccna1'
ID332338
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: 0.351) question?
Stock #IGL00340
Quality Score
Status
Chromosome3
Chromosomal Location55045469-55055501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55050655 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
Ref Sequence ENSEMBL: ENSMUSP00000143275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029368] [ENSMUST00000197238] [ENSMUST00000198102] [ENSMUST00000198320] [ENSMUST00000199144] [ENSMUST00000199352]
Predicted Effect probably damaging
Transcript: ENSMUST00000029368
AA Change: V143A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: V143A

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 damaging
Transcript: ENSMUST00000197238
AA Change: V143A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: V143A

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
SMART Domains Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793

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 damaging
Transcript: ENSMUST00000198320
AA Change: V143A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: V143A

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 damaging
Transcript: ENSMUST00000199144
AA Change: V143A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Hnrnpl C A 7: 28,813,373 A118D probably damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr46 T A 7: 140,610,753 S196T probably damaging Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pias1 A G 9: 62,923,296 V187A probably damaging Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp1r8 T C 4: 132,834,681 Y76C probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stard3 T C 11: 98,377,459 Y239H probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Ccna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03310:Ccna1 APN 3 55050620 missense probably benign 0.01
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
R7944:Ccna1 UTSW 3 55050589 missense possibly damaging 0.68
R8088:Ccna1 UTSW 3 55051071 missense probably benign 0.01
Posted On2015-08-05