Incidental Mutation 'IGL02454:Ccnl1'
ID293757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnl1
Ensembl Gene ENSMUSG00000027829
Gene Namecyclin L1
Synonyms2610030E23Rik, ania-6a
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.666) question?
Stock #IGL02454
Quality Score
Status
Chromosome3
Chromosomal Location65946151-65958249 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65956897 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 122 (D122E)
Ref Sequence ENSEMBL: ENSMUSP00000118394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029416] [ENSMUST00000129002] [ENSMUST00000135719] [ENSMUST00000154585]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029416
AA Change: D154E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: D154E

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 196 3.55e-11 SMART
Cyclin_C 205 320 7.79e-5 SMART
CYCLIN 209 293 9.01e-13 SMART
low complexity region 386 445 N/A INTRINSIC
low complexity region 464 485 N/A INTRINSIC
low complexity region 494 532 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122919
Predicted Effect probably damaging
Transcript: ENSMUST00000129002
AA Change: D154E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829
AA Change: D154E

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135719
AA Change: D122E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829
AA Change: D122E

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
CYCLIN 62 142 3.93e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142153
Predicted Effect probably benign
Transcript: ENSMUST00000144810
Predicted Effect probably benign
Transcript: ENSMUST00000145186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149160
Predicted Effect probably damaging
Transcript: ENSMUST00000154585
AA Change: D154E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829
AA Change: D154E

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195714
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T A 16: 38,827,947 T267S probably benign Het
Amz2 T G 11: 109,434,061 probably benign Het
Atp13a5 A G 16: 29,232,808 F1104S probably benign Het
Cacna1c T C 6: 118,602,180 N1610S probably damaging Het
Crtc2 G A 3: 90,259,167 G65S probably benign Het
Dnah17 T C 11: 118,080,767 T2160A probably damaging Het
Fads3 T G 19: 10,055,119 L278R probably damaging Het
Foxp4 A T 17: 47,875,582 L424* probably null Het
Gm10392 A T 11: 77,518,390 E310V probably damaging Het
Gm11554 T A 11: 99,803,989 S133C unknown Het
Hacd2 T A 16: 35,106,391 F253L probably benign Het
Il3ra T C 14: 14,351,113 S212P probably benign Het
Mdn1 T C 4: 32,694,674 probably null Het
Mtfr1l A T 4: 134,530,385 L111H probably damaging Het
Mysm1 A G 4: 94,970,504 probably benign Het
Olfr418 C A 1: 173,270,940 S255Y probably damaging Het
Olfr646 T C 7: 104,106,612 V111A probably damaging Het
Plec A T 15: 76,191,031 F357I probably damaging Het
Polr3a C A 14: 24,475,823 V450L possibly damaging Het
Prkd1 T C 12: 50,364,673 K764R probably benign Het
Pxn C T 5: 115,552,266 P256S probably damaging Het
Rbm25 T A 12: 83,660,322 F247L probably benign Het
Rfx4 C T 10: 84,840,106 T62M possibly damaging Het
Rps4l-ps T C 7: 114,927,264 noncoding transcript Het
Scn11a A G 9: 119,758,544 I1378T probably benign Het
Siglecg T C 7: 43,408,895 S69P probably benign Het
Stox1 T C 10: 62,667,826 Y61C probably damaging Het
Tnks C T 8: 34,831,728 probably benign Het
Tpr A G 1: 150,431,192 S1587G probably benign Het
Trappc6b A G 12: 59,043,647 *97Q probably null Het
Usf3 T C 16: 44,217,182 V675A probably damaging Het
Wdr7 C T 18: 63,796,228 T1045M probably benign Het
Zc3h11a A T 1: 133,624,516 C618S probably benign Het
Zfp398 T C 6: 47,840,367 V47A possibly damaging Het
Zzz3 A G 3: 152,428,574 N423S probably benign Het
Other mutations in Ccnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Ccnl1 APN 3 65948487 splice site probably benign
IGL02353:Ccnl1 APN 3 65948720 missense probably damaging 1.00
IGL02360:Ccnl1 APN 3 65948720 missense probably damaging 1.00
R1598:Ccnl1 UTSW 3 65946770 missense probably damaging 0.97
R1903:Ccnl1 UTSW 3 65946911 missense possibly damaging 0.73
R2392:Ccnl1 UTSW 3 65948752 missense probably damaging 1.00
R3879:Ccnl1 UTSW 3 65948758 missense possibly damaging 0.85
R4607:Ccnl1 UTSW 3 65946710 utr 3 prime probably benign
R4608:Ccnl1 UTSW 3 65946710 utr 3 prime probably benign
R4739:Ccnl1 UTSW 3 65946671 utr 3 prime probably benign
R4885:Ccnl1 UTSW 3 65956899 missense probably damaging 1.00
R5833:Ccnl1 UTSW 3 65948501 missense probably benign 0.23
R5933:Ccnl1 UTSW 3 65948342 missense probably damaging 1.00
R6933:Ccnl1 UTSW 3 65947952 missense probably benign 0.00
R7425:Ccnl1 UTSW 3 65948758 missense probably damaging 1.00
Posted On2015-04-16