Incidental Mutation 'IGL02029:Ccnl2'
ID184312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnl2
Ensembl Gene ENSMUSG00000029068
Gene Namecyclin L2
SynonymsPcee, ania-6b, 2010319M22Rik, 1810019L15Rik, 1700010A01Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02029
Quality Score
Status
Chromosome4
Chromosomal Location155812489-155824543 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155821862 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 351 (S351G)
Ref Sequence ENSEMBL: ENSMUSP00000030944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030944]
Predicted Effect probably benign
Transcript: ENSMUST00000030944
AA Change: S351G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: S351G

DomainStartEndE-ValueType
low complexity region 1 30 N/A INTRINSIC
CYCLIN 81 183 8.74e-11 SMART
Cyclin_C 192 315 9.58e-5 SMART
CYCLIN 196 280 1.24e-15 SMART
low complexity region 334 351 N/A INTRINSIC
low complexity region 376 428 N/A INTRINSIC
Blast:CYCLIN 429 478 5e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000126346
SMART Domains Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068

DomainStartEndE-ValueType
Blast:CYCLIN 2 52 2e-28 BLAST
SCOP:d1vin_1 29 59 9e-4 SMART
SCOP:d1jkw_2 62 87 8e-4 SMART
Blast:CYCLIN 65 87 5e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139066
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 cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Ccnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Ccnl2 APN 4 155820880 missense probably damaging 1.00
IGL01936:Ccnl2 APN 4 155820399 missense probably damaging 1.00
IGL03244:Ccnl2 APN 4 155821022 missense probably benign 0.20
R2069:Ccnl2 UTSW 4 155812481 unclassified probably null
R4996:Ccnl2 UTSW 4 155813524 missense possibly damaging 0.46
Posted On2014-05-07