Incidental Mutation 'R8865:Ccnl1'
ID 675849
Institutional Source Beutler Lab
Gene Symbol Ccnl1
Ensembl Gene ENSMUSG00000027829
Gene Name cyclin L1
Synonyms 2610030E23Rik, ania-6a
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.653) question?
Stock # R8865 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 65946151-65958249 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65946848 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 451 (S451T)
Ref Sequence ENSEMBL: ENSMUSP00000029416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029416] [ENSMUST00000129002] [ENSMUST00000135719] [ENSMUST00000154585]
AlphaFold Q52KE7
Predicted Effect probably benign
Transcript: ENSMUST00000029416
AA Change: S451T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: S451T

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 probably benign
Transcript: ENSMUST00000129002
SMART Domains Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135719
SMART Domains Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
CYCLIN 62 142 3.93e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144810
Predicted Effect probably benign
Transcript: ENSMUST00000145186
Predicted Effect probably benign
Transcript: ENSMUST00000154585
SMART Domains Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,781,744 Y606* probably null Het
Adgrb1 A G 15: 74,543,658 I696V possibly damaging Het
Ass1 A G 2: 31,520,395 Q406R probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 96,099,982 probably benign Het
Ccdc148 T C 2: 58,829,820 K409R possibly damaging Het
Cdc123 T C 2: 5,795,424 probably benign Het
Cep192 T C 18: 67,834,632 V729A probably benign Het
Chd6 G A 2: 161,021,069 A444V probably benign Het
Chl1 A G 6: 103,708,861 K898E probably damaging Het
Chrng T C 1: 87,207,497 V154A probably damaging Het
Cog1 T G 11: 113,658,498 M799R probably benign Het
Col4a3 G A 1: 82,669,762 probably null Het
Coro6 C A 11: 77,469,091 T366K probably damaging Het
Cwh43 G A 5: 73,441,359 M640I probably benign Het
Cyp2c55 A G 19: 39,031,434 E272G probably benign Het
Cyp4f39 A G 17: 32,483,297 Y256C probably damaging Het
Dbx2 G A 15: 95,632,400 R229* probably null Het
Dcdc2a C T 13: 25,202,283 A380V probably benign Het
En1 G T 1: 120,603,000 probably benign Het
F3 T A 3: 121,729,411 V90E probably damaging Het
Fam171a1 A G 2: 3,225,903 K691R probably damaging Het
Foxp2 C T 6: 15,415,094 A609V unknown Het
Hemgn A T 4: 46,396,682 S185T possibly damaging Het
Hk1 C T 10: 62,315,515 D33N probably benign Het
Igfbp1 T A 11: 7,201,929 V244D probably damaging Het
Insr A T 8: 3,161,358 D1160E probably damaging Het
Irs1 A T 1: 82,288,109 Y795* probably null Het
Krtap28-10 T C 1: 83,042,087 K111E unknown Het
Lbx1 T G 19: 45,235,166 D21A probably benign Het
Map6 G T 7: 99,268,985 A322S probably benign Het
Mat1a T C 14: 41,121,831 Y336H probably damaging Het
Mcf2l A G 8: 12,880,003 I8V probably benign Het
Med12l T C 3: 59,071,882 V276A probably benign Het
Mettl17 A G 14: 51,884,851 probably benign Het
Mllt1 T C 17: 56,900,295 D183G possibly damaging Het
Msmb T A 14: 32,150,260 C69* probably null Het
Mterf1a A G 5: 3,891,425 S148P probably damaging Het
Mybl2 A G 2: 163,080,733 I583V probably benign Het
Nbr1 T A 11: 101,564,694 D91E probably benign Het
Notch3 A G 17: 32,122,116 Y2221H probably benign Het
Npat C A 9: 53,570,640 T1216N probably benign Het
Olfr1082 C A 2: 86,594,400 V143F possibly damaging Het
Olfr127 T C 17: 37,904,224 L226P probably damaging Het
Olfr137 T A 17: 38,304,981 H160L probably damaging Het
Pawr T A 10: 108,382,742 Y170N probably damaging Het
Pde12 T C 14: 26,669,125 D143G possibly damaging Het
Phactr2 A G 10: 13,253,732 I264T probably benign Het
Pip5k1b A G 19: 24,397,058 L53P probably damaging Het
Pknox1 T C 17: 31,599,546 I251T probably benign Het
Plcxd1 A T 5: 110,101,975 probably benign Het
Polr3c C T 3: 96,715,201 probably benign Het
Ppil2 T C 16: 17,097,405 N113S probably benign Het
Pramel4 G C 4: 144,068,482 G483R probably damaging Het
Prdm10 T C 9: 31,327,397 L195P probably damaging Het
Prss16 A T 13: 22,003,005 L465Q possibly damaging Het
Psg25 G T 7: 18,529,594 H101Q possibly damaging Het
Pstpip2 A G 18: 77,846,408 D55G possibly damaging Het
Rfc1 A T 5: 65,278,792 D636E possibly damaging Het
Scarf2 G T 16: 17,803,110 C214F probably damaging Het
Sirt4 T C 5: 115,482,645 E156G probably damaging Het
Spag6 C T 2: 18,734,117 S286L probably benign Het
Stx17 T A 4: 48,183,444 H267Q unknown Het
Tekt3 T C 11: 63,070,232 C76R probably benign Het
Tln1 A T 4: 43,538,281 V1807E possibly damaging Het
Tnfrsf21 A G 17: 43,085,481 D552G probably damaging Het
Ttn C A 2: 76,730,320 V29246L possibly damaging Het
Usp43 C A 11: 67,898,962 C252F probably damaging Het
Vmn2r16 T C 5: 109,340,044 I261T probably benign Het
Vwa5b1 T C 4: 138,581,219 E769G probably benign Het
Xrn1 T A 9: 95,991,193 F670Y probably benign Het
Zc3h7b G A 15: 81,772,480 R166Q probably benign Het
Zdhhc14 A T 17: 5,725,295 Y274F possibly damaging Het
Zeb2 T A 2: 44,996,127 M973L probably benign Het
Zfp638 T C 6: 83,977,053 V1380A possibly damaging 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
IGL02454:Ccnl1 APN 3 65956897 missense probably damaging 0.99
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
R7943:Ccnl1 UTSW 3 65956905 missense probably benign 0.30
R7988:Ccnl1 UTSW 3 65957861 missense possibly damaging 0.64
R7990:Ccnl1 UTSW 3 65946893 missense possibly damaging 0.73
R8137:Ccnl1 UTSW 3 65957870 missense possibly damaging 0.96
R8690:Ccnl1 UTSW 3 65947744 missense possibly damaging 0.73
R8736:Ccnl1 UTSW 3 65958026 missense unknown
R8914:Ccnl1 UTSW 3 65946659 missense unknown
R9186:Ccnl1 UTSW 3 65958005 missense unknown
R9612:Ccnl1 UTSW 3 65957983 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACGCCTGTCTCTGTGATG -3'
(R):5'- AAGCTTCAATTGAGGGGTCAG -3'

Sequencing Primer
(F):5'- GTGATGTCCCCTTTCGTGC -3'
(R):5'- GAGGAACATGGTCAGTCATTACTC -3'
Posted On 2021-07-15