Incidental Mutation 'R2392:Ccnl1'
ID 247791
Institutional Source Beutler Lab
Gene Symbol Ccnl1
Ensembl Gene ENSMUSG00000027829
Gene Name cyclin L1
Synonyms ania-6a, 2610030E23Rik
MMRRC Submission 040360-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R2392 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 65853572-65865670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65856173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 244 (V244A)
Ref Sequence ENSEMBL: ENSMUSP00000029416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029416] [ENSMUST00000129002] [ENSMUST00000135719] [ENSMUST00000154585]
AlphaFold Q52KE7
Predicted Effect probably damaging
Transcript: ENSMUST00000029416
AA Change: V244A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: V244A

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 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 noncoding transcript
Transcript: ENSMUST00000132998
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 noncoding transcript
Transcript: ENSMUST00000142153
Predicted Effect probably benign
Transcript: ENSMUST00000144810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150304
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
Meta Mutation Damage Score 0.2898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,297,264 (GRCm39) S2409T probably damaging Het
Acap2 A G 16: 30,958,458 (GRCm39) F120S probably damaging Het
Akr1c6 A G 13: 4,484,477 (GRCm39) probably null Het
Bptf C A 11: 106,963,573 (GRCm39) A1874S probably damaging Het
Cenpe T G 3: 134,953,874 (GRCm39) L1628R probably damaging Het
Cfap54 A G 10: 92,860,873 (GRCm39) probably null Het
Chchd7 T A 4: 3,943,381 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crybg2 G T 4: 133,799,925 (GRCm39) V362L probably benign Het
Ddx11 T A 17: 66,456,968 (GRCm39) V791E probably damaging Het
Disp1 G A 1: 182,868,731 (GRCm39) P1230S probably benign Het
Elp5 T C 11: 69,865,928 (GRCm39) H116R probably benign Het
Epb42 T C 2: 120,860,468 (GRCm39) E177G possibly damaging Het
F13a1 T A 13: 37,127,971 (GRCm39) I336F possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcsk A G 8: 111,616,356 (GRCm39) M453T probably benign Het
Hacd2 A T 16: 34,926,748 (GRCm39) E249V probably benign Het
Hnrnpf C A 6: 117,901,829 (GRCm39) A371D possibly damaging Het
Jmjd1c A G 10: 67,065,683 (GRCm39) T1703A probably damaging Het
Kcnj13 G A 1: 87,314,622 (GRCm39) T200I possibly damaging Het
Kif1b G A 4: 149,305,077 (GRCm39) T949M possibly damaging Het
Klhl35 G A 7: 99,123,031 (GRCm39) A552T possibly damaging Het
Krt74 A G 15: 101,665,236 (GRCm39) noncoding transcript Het
Krtap14 T A 16: 88,622,597 (GRCm39) probably null Het
Lrrc45 A G 11: 120,610,365 (GRCm39) N492S probably benign Het
Lrrcc1 T A 3: 14,601,580 (GRCm39) N114K probably damaging Het
Mfsd2b T C 12: 4,915,164 (GRCm39) D375G possibly damaging Het
Mgat4a A G 1: 37,537,785 (GRCm39) L44P probably damaging Het
Mttp A C 3: 137,800,782 (GRCm39) D774E probably damaging Het
Myo5a T C 9: 75,116,521 (GRCm39) V1554A probably benign Het
Nes C T 3: 87,883,250 (GRCm39) A503V probably benign Het
Nme8 A G 13: 19,873,113 (GRCm39) probably null Het
Nr4a1 A G 15: 101,172,075 (GRCm39) D583G possibly damaging Het
Or12d17 A G 17: 37,777,310 (GRCm39) Y71C probably damaging Het
Or5k14 A G 16: 58,692,797 (GRCm39) S239P probably damaging Het
Pnpla8 T A 12: 44,358,287 (GRCm39) L746I probably damaging Het
Ppp1r7 A T 1: 93,282,063 (GRCm39) I205F probably benign Het
Psd4 C A 2: 24,284,679 (GRCm39) P181Q probably damaging Het
Ripor2 G A 13: 24,890,206 (GRCm39) V694I probably benign Het
Scn10a A G 9: 119,456,268 (GRCm39) S1185P possibly damaging Het
Sec23b T A 2: 144,427,507 (GRCm39) probably null Het
Slfn2 A G 11: 82,956,154 (GRCm39) N12S possibly damaging Het
Slfn4 A G 11: 83,076,248 (GRCm39) K38R possibly damaging Het
Smarca2 G T 19: 26,618,050 (GRCm39) probably null Het
Taar4 A G 10: 23,837,172 (GRCm39) T261A possibly damaging Het
Tbl2 A G 5: 135,185,368 (GRCm39) D159G probably benign Het
Tmem120a T C 5: 135,770,892 (GRCm39) E55G probably damaging Het
Ttc21b A G 2: 66,037,794 (GRCm39) probably null Het
Vill A T 9: 118,896,628 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,487,130 (GRCm39) M511K probably damaging Het
Vmn2r81 A T 10: 79,110,516 (GRCm39) D543V probably damaging Het
Wdr95 A G 5: 149,504,135 (GRCm39) T314A probably benign Het
Zbtb8b A G 4: 129,326,982 (GRCm39) I61T 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
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
R8137:Ccnl1 UTSW 3 65,865,291 (GRCm39) missense possibly damaging 0.96
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'- CCTCTTCTGTGGTACCAAACAG -3'
(R):5'- GCGGCTTTGGGAGTAAGATC -3'

Sequencing Primer
(F):5'- TTCTGTGGTACCAAACAGAAGAAAC -3'
(R):5'- AGAATTACTTAAAGTGCTGTGGGG -3'
Posted On 2014-11-11