Incidental Mutation 'IGL03382:Ccna1'
ID 420729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccna1
Ensembl Gene ENSMUSG00000027793
Gene Name cyclin A1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL03382
Quality Score
Status
Chromosome 3
Chromosomal Location 54952890-54962922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 54954698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 338 (Y338D)
Ref Sequence ENSEMBL: ENSMUSP00000143447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029368] [ENSMUST00000197238] [ENSMUST00000198102] [ENSMUST00000198320] [ENSMUST00000199144] [ENSMUST00000199352]
AlphaFold Q61456
Predicted Effect probably damaging
Transcript: ENSMUST00000029368
AA Change: Y338D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: Y338D

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: Y338D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: Y338D

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: ENSMUST00000198102
AA Change: Y190D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793
AA Change: Y190D

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: Y338D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: Y338D

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
Predicted Effect probably benign
Transcript: ENSMUST00000199352
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,988,926 (GRCm39) D831G possibly damaging Het
Amer2 A G 14: 60,617,331 (GRCm39) K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 (GRCm39) K449E probably damaging Het
Atp8b2 G A 3: 89,855,828 (GRCm39) P459L probably benign Het
Atr C T 9: 95,802,875 (GRCm39) R1846* probably null Het
Brd10 C T 19: 29,694,676 (GRCm39) G1606R probably damaging Het
Ccdc159 C A 9: 21,842,992 (GRCm39) probably null Het
Cpq A T 15: 33,213,089 (GRCm39) E36V probably damaging Het
Cyp2c23 A G 19: 44,003,371 (GRCm39) I268T probably damaging Het
Dctn2 G T 10: 127,114,057 (GRCm39) Q332H probably damaging Het
Dnah17 T A 11: 117,972,769 (GRCm39) I2055F probably damaging Het
Dnmt3b A G 2: 153,528,279 (GRCm39) H764R probably damaging Het
Gphn T A 12: 78,528,087 (GRCm39) I135K probably damaging Het
Hnrnpul1 A G 7: 25,450,409 (GRCm39) M1T probably null Het
Htra4 T C 8: 25,519,714 (GRCm39) D406G probably benign Het
Klk10 G T 7: 43,433,883 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,367,616 (GRCm39) W53R probably benign Het
Magel2 T C 7: 62,028,461 (GRCm39) V455A probably benign Het
Mrgprb5 T C 7: 47,818,442 (GRCm39) T98A probably benign Het
Mrps35 T A 6: 146,951,373 (GRCm39) C76* probably null Het
Myh7b C T 2: 155,465,399 (GRCm39) R701C probably damaging Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Neb T A 2: 52,215,720 (GRCm39) M196L probably benign Het
Nmd3 A G 3: 69,642,421 (GRCm39) K207R probably damaging Het
Plxna4 C T 6: 32,179,129 (GRCm39) R962Q probably benign Het
Pom121 T C 5: 135,421,261 (GRCm39) K230E unknown Het
Psme4 A G 11: 30,757,788 (GRCm39) D307G possibly damaging Het
Rnf41 T G 10: 128,274,149 (GRCm39) M267R possibly damaging Het
Sis T C 3: 72,836,052 (GRCm39) N846D probably benign Het
Slc22a19 T A 19: 7,659,227 (GRCm39) I463L probably benign Het
Slc25a39 A T 11: 102,297,030 (GRCm39) probably null Het
Slc35b2 C T 17: 45,877,571 (GRCm39) R233C probably damaging Het
Slc4a4 T C 5: 89,376,695 (GRCm39) L983P probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Tbc1d10a A G 11: 4,159,984 (GRCm39) Y123C probably damaging Het
Thbs4 A C 13: 92,906,056 (GRCm39) I395S probably benign Het
Triml2 A G 8: 43,646,776 (GRCm39) T422A probably benign Het
Ubn2 T C 6: 38,417,382 (GRCm39) probably benign Het
Vmn1r15 T A 6: 57,235,555 (GRCm39) M141K probably benign Het
Vmn2r80 A G 10: 79,005,362 (GRCm39) E333G probably damaging Het
Zfp169 T C 13: 48,644,639 (GRCm39) probably benign Het
Zfp942 G A 17: 22,148,083 (GRCm39) P182L probably benign Het
Other mutations in Ccna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ccna1 APN 3 54,958,076 (GRCm39) missense probably damaging 1.00
IGL00341:Ccna1 APN 3 54,958,076 (GRCm39) missense probably damaging 1.00
IGL02484:Ccna1 APN 3 54,955,915 (GRCm39) missense probably benign 0.08
IGL02649:Ccna1 APN 3 54,961,807 (GRCm39) missense probably damaging 1.00
IGL03310:Ccna1 APN 3 54,958,041 (GRCm39) missense probably benign 0.01
R0127:Ccna1 UTSW 3 54,957,169 (GRCm39) missense probably damaging 1.00
R0195:Ccna1 UTSW 3 54,961,785 (GRCm39) missense probably damaging 0.99
R0219:Ccna1 UTSW 3 54,958,348 (GRCm39) missense probably benign 0.00
R0255:Ccna1 UTSW 3 54,958,049 (GRCm39) missense probably damaging 1.00
R0492:Ccna1 UTSW 3 54,956,004 (GRCm39) missense probably damaging 0.98
R1102:Ccna1 UTSW 3 54,958,281 (GRCm39) missense probably damaging 1.00
R1378:Ccna1 UTSW 3 54,957,150 (GRCm39) missense probably damaging 1.00
R3724:Ccna1 UTSW 3 54,958,353 (GRCm39) missense probably damaging 0.99
R3799:Ccna1 UTSW 3 54,958,040 (GRCm39) missense probably benign 0.24
R4199:Ccna1 UTSW 3 54,954,736 (GRCm39) missense possibly damaging 0.85
R4992:Ccna1 UTSW 3 54,957,311 (GRCm39) missense probably damaging 0.97
R5465:Ccna1 UTSW 3 54,953,065 (GRCm39) missense probably benign 0.00
R5560:Ccna1 UTSW 3 54,955,990 (GRCm39) missense probably damaging 1.00
R5603:Ccna1 UTSW 3 54,958,330 (GRCm39) missense probably damaging 1.00
R6764:Ccna1 UTSW 3 54,953,499 (GRCm39) missense probably damaging 1.00
R7034:Ccna1 UTSW 3 54,953,460 (GRCm39) missense possibly damaging 0.67
R7144:Ccna1 UTSW 3 54,953,120 (GRCm39) missense probably benign
R7944:Ccna1 UTSW 3 54,958,010 (GRCm39) missense possibly damaging 0.68
R8088:Ccna1 UTSW 3 54,958,492 (GRCm39) missense probably benign 0.01
R8680:Ccna1 UTSW 3 54,955,878 (GRCm39) missense probably benign 0.01
R8797:Ccna1 UTSW 3 54,953,069 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02