Incidental Mutation 'R8137:Ccnl1'
ID 632292
Institutional Source Beutler Lab
Gene Symbol Ccnl1
Ensembl Gene ENSMUSG00000027829
Gene Name cyclin L1
Synonyms ania-6a, 2610030E23Rik
MMRRC Submission 067565-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R8137 (G1)
Quality Score 181.009
Status Validated
Chromosome 3
Chromosomal Location 65853572-65865670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65865291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 87 (D87N)
Ref Sequence ENSEMBL: ENSMUSP00000029416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029416] [ENSMUST00000129002] [ENSMUST00000135719] [ENSMUST00000154585]
AlphaFold Q52KE7
Predicted Effect possibly damaging
Transcript: ENSMUST00000029416
AA Change: D87N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: D87N

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 possibly damaging
Transcript: ENSMUST00000129002
AA Change: D87N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829
AA Change: D87N

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135719
AA Change: D55N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829
AA Change: D55N

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 possibly damaging
Transcript: ENSMUST00000154585
AA Change: D87N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829
AA Change: D87N

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
CYCLIN 94 174 3.93e-4 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 96.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 T G 11: 89,344,003 (GRCm39) Q326H probably benign Het
Carf G A 1: 60,187,124 (GRCm39) V576I probably benign Het
Cgref1 T A 5: 31,091,749 (GRCm39) D111V possibly damaging Het
Cnot4 G A 6: 35,023,222 (GRCm39) P567S unknown Het
Cyp7b1 A T 3: 18,151,765 (GRCm39) D149E probably benign Het
Dcc A T 18: 71,511,783 (GRCm39) D877E probably benign Het
Dhx8 T A 11: 101,654,808 (GRCm39) I1032N probably damaging Het
Dnah7b A G 1: 46,272,913 (GRCm39) Y2347C probably damaging Het
Dtx3 A G 10: 127,029,041 (GRCm39) S63P possibly damaging Het
Dyrk2 C T 10: 118,695,789 (GRCm39) E490K probably benign Het
Fcgbp A C 7: 27,804,496 (GRCm39) Y1868S probably damaging Het
Foxa2 T C 2: 147,885,768 (GRCm39) H355R probably benign Het
Fpr-rs7 A G 17: 20,334,055 (GRCm39) V145A possibly damaging Het
Gm14137 A T 2: 119,005,837 (GRCm39) E132V probably benign Het
Gpn2 T C 4: 133,315,873 (GRCm39) S211P possibly damaging Het
Greb1l A T 18: 10,474,357 (GRCm39) Q224L possibly damaging Het
Gspt1 A G 16: 11,058,532 (GRCm39) V144A probably benign Het
Ifi204 A G 1: 173,589,188 (GRCm39) I81T possibly damaging Het
Il27ra T A 8: 84,767,720 (GRCm39) probably null Het
Kif21a T C 15: 90,852,645 (GRCm39) T862A probably benign Het
Klf2 T C 8: 73,074,088 (GRCm39) probably null Het
Kmt2e A G 5: 23,706,952 (GRCm39) Y1505C probably damaging Het
Mcm9 T C 10: 53,499,076 (GRCm39) T216A Het
Muc16 T C 9: 18,556,972 (GRCm39) E3107G unknown Het
Ncor2 C T 5: 125,114,957 (GRCm39) V169I Het
Oas3 T C 5: 120,915,565 (GRCm39) Q42R probably benign Het
Or2l5 A G 16: 19,333,846 (GRCm39) V180A possibly damaging Het
Or4p8 T C 2: 88,727,013 (GRCm39) *309W probably null Het
Pde10a A G 17: 9,193,647 (GRCm39) Y693C possibly damaging Het
Pde11a T C 2: 76,041,383 (GRCm39) E429G possibly damaging Het
Pramel23 A G 4: 143,425,835 (GRCm39) F36S probably damaging Het
Pygo1 A G 9: 72,852,140 (GRCm39) H109R probably damaging Het
Rbsn A T 6: 92,167,003 (GRCm39) V547D probably benign Het
Ros1 A G 10: 52,001,933 (GRCm39) I1084T possibly damaging Het
Sis T C 3: 72,796,378 (GRCm39) D1801G probably benign Het
Slco4c1 C T 1: 96,748,970 (GRCm39) G649E probably damaging Het
Spmip10 A G 18: 56,727,653 (GRCm39) D117G probably damaging Het
Sptbn2 A T 19: 4,787,431 (GRCm39) I914F possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Strc C T 2: 121,197,219 (GRCm39) G1503R probably damaging Het
Sv2c T A 13: 96,225,171 (GRCm39) Y46F probably damaging Het
Tctn3 A T 19: 40,593,785 (GRCm39) W462R probably damaging Het
Tjp3 T C 10: 81,109,525 (GRCm39) D857G probably benign Het
Tor1aip2 C T 1: 155,939,414 (GRCm39) T242I possibly damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Vezt T C 10: 93,775,154 (GRCm39) N94D Het
Vmn2r105 T C 17: 20,454,966 (GRCm39) N57D probably benign Het
Wdr59 T C 8: 112,212,011 (GRCm39) D353G Het
Ykt6 T C 11: 5,909,368 (GRCm39) V59A probably damaging Het
Ypel3 T G 7: 126,377,269 (GRCm39) V54G possibly damaging Het
Zfp386 T A 12: 116,023,268 (GRCm39) C329S possibly damaging Het
Zfp451 A T 1: 33,821,156 (GRCm39) L232H possibly damaging Het
Zfp648 A G 1: 154,081,110 (GRCm39) H423R probably damaging Het
Zfp729b T C 13: 67,740,861 (GRCm39) Y468C probably damaging Het
Other mutations in Ccnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Ccnl1 APN 3 65,855,908 (GRCm39) splice site probably benign
IGL02353:Ccnl1 APN 3 65,856,141 (GRCm39) missense probably damaging 1.00
IGL02360:Ccnl1 APN 3 65,856,141 (GRCm39) missense probably damaging 1.00
IGL02454:Ccnl1 APN 3 65,864,318 (GRCm39) missense probably damaging 0.99
R1598:Ccnl1 UTSW 3 65,854,191 (GRCm39) missense probably damaging 0.97
R1903:Ccnl1 UTSW 3 65,854,332 (GRCm39) missense possibly damaging 0.73
R2392:Ccnl1 UTSW 3 65,856,173 (GRCm39) missense probably damaging 1.00
R3879:Ccnl1 UTSW 3 65,856,179 (GRCm39) missense possibly damaging 0.85
R4607:Ccnl1 UTSW 3 65,854,131 (GRCm39) utr 3 prime probably benign
R4608:Ccnl1 UTSW 3 65,854,131 (GRCm39) utr 3 prime probably benign
R4739:Ccnl1 UTSW 3 65,854,092 (GRCm39) utr 3 prime probably benign
R4885:Ccnl1 UTSW 3 65,864,320 (GRCm39) missense probably damaging 1.00
R5833:Ccnl1 UTSW 3 65,855,922 (GRCm39) missense probably benign 0.23
R5933:Ccnl1 UTSW 3 65,855,763 (GRCm39) missense probably damaging 1.00
R6933:Ccnl1 UTSW 3 65,855,373 (GRCm39) missense probably benign 0.00
R7425:Ccnl1 UTSW 3 65,856,179 (GRCm39) missense probably damaging 1.00
R7943:Ccnl1 UTSW 3 65,864,326 (GRCm39) missense probably benign 0.30
R7988:Ccnl1 UTSW 3 65,865,282 (GRCm39) missense possibly damaging 0.64
R7990:Ccnl1 UTSW 3 65,854,314 (GRCm39) missense possibly damaging 0.73
R8690:Ccnl1 UTSW 3 65,855,165 (GRCm39) missense possibly damaging 0.73
R8736:Ccnl1 UTSW 3 65,865,447 (GRCm39) missense unknown
R8865:Ccnl1 UTSW 3 65,854,269 (GRCm39) missense probably benign 0.18
R8914:Ccnl1 UTSW 3 65,854,080 (GRCm39) missense unknown
R9186:Ccnl1 UTSW 3 65,865,426 (GRCm39) missense unknown
R9612:Ccnl1 UTSW 3 65,865,404 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTTGACGAACGACTTGGAGTAG -3'
(R):5'- TGGAGCTCGCTGGAACTATG -3'

Sequencing Primer
(F):5'- GAACAGCACCTGCCCTGTAG -3'
(R):5'- TCGCTGGAACTATGGCGTC -3'
Posted On 2020-06-30