Incidental Mutation 'R5465:Ccna1'
ID 457917
Institutional Source Beutler Lab
Gene Symbol Ccna1
Ensembl Gene ENSMUSG00000027793
Gene Name cyclin A1
Synonyms
MMRRC Submission 043026-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R5465 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 54952890-54962922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54953065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 234 (H234R)
Ref Sequence ENSEMBL: ENSMUSP00000142706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029368] [ENSMUST00000197238] [ENSMUST00000198102] [ENSMUST00000198320] [ENSMUST00000199144]
AlphaFold Q61456
Predicted Effect probably benign
Transcript: ENSMUST00000029368
SMART Domains Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793

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
SMART Domains Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793

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: H234R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793
AA Change: H234R

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
SMART Domains Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aplp1 T C 7: 30,136,277 (GRCm39) D500G probably benign Het
Atg7 G A 6: 114,629,493 (GRCm39) G4R probably benign Het
Atp11b G A 3: 35,864,333 (GRCm39) V302I probably benign Het
Cacna1b C T 2: 24,540,438 (GRCm39) probably null Het
Cplx2 G A 13: 54,527,352 (GRCm39) E79K possibly damaging Het
Dnai4 T A 4: 102,906,758 (GRCm39) D685V probably damaging Het
Gnb2 A G 5: 137,526,775 (GRCm39) I380T probably damaging Het
Gpr162 A T 6: 124,838,134 (GRCm39) V172D probably damaging Het
Gtf2a1 A C 12: 91,534,565 (GRCm39) F191V possibly damaging Het
Ift172 A T 5: 31,418,862 (GRCm39) probably null Het
Khdrbs2 T C 1: 32,658,255 (GRCm39) Y272H probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map1a T C 2: 121,136,506 (GRCm39) S2203P probably damaging Het
Map3k1 A T 13: 111,892,654 (GRCm39) L867Q probably benign Het
Ncapd2 A T 6: 125,153,746 (GRCm39) F656L probably damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or5b109 T C 19: 13,212,052 (GRCm39) I146T probably benign Het
Or7c70 T C 10: 78,682,852 (GRCm39) K299R probably benign Het
Pcdhb6 A T 18: 37,467,783 (GRCm39) I235F probably damaging Het
Pzp A G 6: 128,463,924 (GRCm39) S1395P probably damaging Het
Ralgapb C A 2: 158,290,325 (GRCm39) T412N possibly damaging Het
Rtn4r A T 16: 17,969,291 (GRCm39) M240L probably benign Het
Slit2 C T 5: 48,407,254 (GRCm39) T895I probably damaging Het
Slx4ip T G 2: 136,846,867 (GRCm39) L44R probably damaging Het
Sptbn2 C A 19: 4,800,133 (GRCm39) Q2196K probably benign Het
Tbc1d16 G A 11: 119,046,885 (GRCm39) S454L probably benign Het
Tet1 T C 10: 62,675,556 (GRCm39) H840R probably benign Het
Usp47 C T 7: 111,658,209 (GRCm39) T176M probably damaging Het
Utp6 A T 11: 79,839,836 (GRCm39) I284N probably benign Het
Vcpip1 T C 1: 9,817,372 (GRCm39) H337R probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging 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
IGL03382:Ccna1 APN 3 54,954,698 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2017-02-16