Incidental Mutation 'R6382:Cnot6l'
ID 515361
Institutional Source Beutler Lab
Gene Symbol Cnot6l
Ensembl Gene ENSMUSG00000034724
Gene Name CCR4-NOT transcription complex, subunit 6-like
Synonyms 4932442K20Rik
MMRRC Submission 044531-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R6382 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 96218192-96312030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96276858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 110 (R110L)
Ref Sequence ENSEMBL: ENSMUSP00000113821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000129646] [ENSMUST00000137207] [ENSMUST00000141383] [ENSMUST00000155901] [ENSMUST00000154500]
AlphaFold Q8VEG6
Predicted Effect probably benign
Transcript: ENSMUST00000036646
Predicted Effect probably damaging
Transcript: ENSMUST00000113005
AA Change: R115L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: R115L

DomainStartEndE-ValueType
LRR 55 77 4.34e-1 SMART
LRR 78 100 1.01e-1 SMART
LRR 101 124 7.55e-1 SMART
Pfam:Exo_endo_phos 192 529 7.3e-22 PFAM
low complexity region 532 545 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122003
AA Change: R110L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: R110L

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Pfam:Exo_endo_phos 187 433 1.3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129646
AA Change: R110L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123653
Gene: ENSMUSG00000034724
AA Change: R110L

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137066
Predicted Effect probably benign
Transcript: ENSMUST00000137207
SMART Domains Protein: ENSMUSP00000121627
Gene: ENSMUSG00000034724

DomainStartEndE-ValueType
LRR_TYP 50 73 6.67e-2 SMART
Pfam:LRR_1 75 87 6.9e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141383
SMART Domains Protein: ENSMUSP00000114436
Gene: ENSMUSG00000034724

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR_TYP 73 96 1.58e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155901
AA Change: R110L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: R110L

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Pfam:Exo_endo_phos 187 524 2.2e-23 PFAM
low complexity region 527 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154500
Meta Mutation Damage Score 0.2593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,418,850 (GRCm39) M148K probably benign Het
Aldoc T C 11: 78,216,568 (GRCm39) I242T probably benign Het
Camta2 T C 11: 70,562,867 (GRCm39) T927A probably damaging Het
Ccdc30 T C 4: 119,261,363 (GRCm39) R25G possibly damaging Het
Cdh16 T A 8: 105,348,175 (GRCm39) M181L possibly damaging Het
Clstn1 A T 4: 149,710,577 (GRCm39) probably null Het
Col7a1 G A 9: 108,804,461 (GRCm39) S2264N unknown Het
Cspp1 A G 1: 10,153,700 (GRCm39) probably null Het
Cul1 T A 6: 47,479,373 (GRCm39) L213Q probably damaging Het
Cuta T C 17: 27,157,428 (GRCm39) Q124R probably benign Het
Cyp1a1 T A 9: 57,607,973 (GRCm39) N200K probably damaging Het
Dag1 C A 9: 108,085,336 (GRCm39) A602S possibly damaging Het
Ftdc1 T C 16: 58,434,273 (GRCm39) E148G possibly damaging Het
Gm4707 G A 17: 71,766,238 (GRCm39) probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
H2-T23 T C 17: 36,342,724 (GRCm39) Y138C probably damaging Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Hpse2 A G 19: 43,376,641 (GRCm39) L37P possibly damaging Het
Hsd17b6 A T 10: 127,827,196 (GRCm39) I292N probably damaging Het
Hsp90aa1 A T 12: 110,661,951 (GRCm39) probably null Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Igkv10-95 A G 6: 68,657,672 (GRCm39) T43A probably benign Het
Igkv6-17 C T 6: 70,348,814 (GRCm39) Q62* probably null Het
Jakmip2 A G 18: 43,704,244 (GRCm39) S367P possibly damaging Het
Lrrc40 A G 3: 157,764,333 (GRCm39) D416G probably damaging Het
Mdm2 A G 10: 117,528,626 (GRCm39) V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 74,169,375 (GRCm39) probably null Het
Myo1b C T 1: 51,813,466 (GRCm39) probably null Het
Notch2 A G 3: 98,048,859 (GRCm39) D1799G probably damaging Het
Obscn C T 11: 58,890,239 (GRCm39) G7431D unknown Het
Obscn A T 11: 58,933,034 (GRCm39) C4781S probably damaging Het
Or2a14 T A 6: 43,130,899 (GRCm39) I220N probably damaging Het
Or7a35 C A 10: 78,853,351 (GRCm39) S65Y probably damaging Het
Pard3 T A 8: 128,103,264 (GRCm39) V411D probably damaging Het
Pfkl T C 10: 77,835,671 (GRCm39) R246G probably damaging Het
Pgs1 T C 11: 117,894,186 (GRCm39) Y238H probably damaging Het
Pik3c2g A G 6: 139,665,724 (GRCm39) E15G possibly damaging Het
Pja2 A G 17: 64,616,610 (GRCm39) V95A probably benign Het
Ripor2 T C 13: 24,861,828 (GRCm39) I207T possibly damaging Het
Rps15 A G 10: 80,129,820 (GRCm39) Y115C probably damaging Het
Shkbp1 C A 7: 27,051,484 (GRCm39) E192* probably null Het
Slc23a4 T A 6: 34,933,978 (GRCm39) M42L probably benign Het
Snx25 T A 8: 46,509,028 (GRCm39) S373C probably benign Het
Sppl2a A T 2: 126,758,949 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,675 (GRCm39) T45I possibly damaging Het
Tpcn2 A G 7: 144,823,486 (GRCm39) S256P possibly damaging Het
Txk C T 5: 72,893,823 (GRCm39) probably benign Het
Ubr2 C G 17: 47,268,241 (GRCm39) W991S possibly damaging Het
Ufc1 A G 1: 171,122,248 (GRCm39) W28R probably damaging Het
Unc93b1 C A 19: 3,985,297 (GRCm39) A35E probably benign Het
Ush2a A G 1: 188,546,499 (GRCm39) N3425S probably benign Het
Vmn1r32 A G 6: 66,530,345 (GRCm39) Y144H probably benign Het
Vmn1r76 A G 7: 11,664,426 (GRCm39) F228L probably damaging Het
Zfc3h1 A G 10: 115,243,813 (GRCm39) N715D probably benign Het
Zfp933 T C 4: 147,910,325 (GRCm39) S424G probably benign Het
Other mutations in Cnot6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Cnot6l APN 5 96,234,105 (GRCm39) missense probably damaging 1.00
IGL02102:Cnot6l APN 5 96,239,518 (GRCm39) missense probably damaging 0.98
BB005:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
BB015:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
R0443:Cnot6l UTSW 5 96,239,604 (GRCm39) splice site probably benign
R0448:Cnot6l UTSW 5 96,227,905 (GRCm39) missense probably benign 0.00
R1436:Cnot6l UTSW 5 96,281,971 (GRCm39) missense probably damaging 1.00
R2198:Cnot6l UTSW 5 96,227,800 (GRCm39) missense possibly damaging 0.79
R4240:Cnot6l UTSW 5 96,225,221 (GRCm39) missense probably benign
R4506:Cnot6l UTSW 5 96,234,033 (GRCm39) missense possibly damaging 0.93
R4624:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4627:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4629:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4868:Cnot6l UTSW 5 96,230,882 (GRCm39) missense probably damaging 1.00
R4936:Cnot6l UTSW 5 96,227,796 (GRCm39) missense probably damaging 1.00
R5597:Cnot6l UTSW 5 96,278,978 (GRCm39) missense probably damaging 1.00
R5781:Cnot6l UTSW 5 96,234,024 (GRCm39) missense probably benign 0.31
R6142:Cnot6l UTSW 5 96,230,837 (GRCm39) missense probably benign 0.00
R6166:Cnot6l UTSW 5 96,227,799 (GRCm39) missense possibly damaging 0.79
R6189:Cnot6l UTSW 5 96,246,136 (GRCm39) missense probably benign 0.18
R6515:Cnot6l UTSW 5 96,309,537 (GRCm39) intron probably benign
R6773:Cnot6l UTSW 5 96,242,158 (GRCm39) missense probably damaging 1.00
R7326:Cnot6l UTSW 5 96,225,158 (GRCm39) missense probably benign 0.00
R7466:Cnot6l UTSW 5 96,278,987 (GRCm39) missense probably benign 0.01
R7832:Cnot6l UTSW 5 96,242,084 (GRCm39) missense possibly damaging 0.90
R7928:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
R8310:Cnot6l UTSW 5 96,239,535 (GRCm39) missense probably benign
R8499:Cnot6l UTSW 5 96,225,176 (GRCm39) missense probably damaging 1.00
R8698:Cnot6l UTSW 5 96,225,149 (GRCm39) missense probably damaging 1.00
R9029:Cnot6l UTSW 5 96,246,136 (GRCm39) missense probably benign 0.18
R9100:Cnot6l UTSW 5 96,230,875 (GRCm39) missense probably damaging 1.00
R9377:Cnot6l UTSW 5 96,276,826 (GRCm39) missense probably benign 0.01
R9485:Cnot6l UTSW 5 96,230,858 (GRCm39) missense probably damaging 0.99
R9685:Cnot6l UTSW 5 96,230,749 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCACCTTTAACAAATCCTTC -3'
(R):5'- TGTGCTACAGAATGAGTGAGTC -3'

Sequencing Primer
(F):5'- AACAAATCCTTCTCACTCTTTCAG -3'
(R):5'- GAATGACAAATGCAGACATT -3'
Posted On 2018-05-04