Incidental Mutation 'R4506:Cnot6l'
ID 332009
Institutional Source Beutler Lab
Gene Symbol Cnot6l
Ensembl Gene ENSMUSG00000034724
Gene Name CCR4-NOT transcription complex, subunit 6-like
Synonyms 4932442K20Rik
MMRRC Submission 041584-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R4506 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 96218192-96312030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96234033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 326 (V326E)
Ref Sequence ENSEMBL: ENSMUSP00000113821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000155901]
AlphaFold Q8VEG6
Predicted Effect probably benign
Transcript: ENSMUST00000036646
Predicted Effect possibly damaging
Transcript: ENSMUST00000113005
AA Change: V331E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: V331E

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 possibly damaging
Transcript: ENSMUST00000122003
AA Change: V326E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: V326E

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 noncoding transcript
Transcript: ENSMUST00000152490
Predicted Effect possibly damaging
Transcript: ENSMUST00000155901
AA Change: V326E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: V326E

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
Meta Mutation Damage Score 0.6863 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,685,087 (GRCm39) P137T probably damaging Het
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Ace T A 11: 105,867,492 (GRCm39) L152Q probably damaging Het
Adam19 G A 11: 46,009,271 (GRCm39) D232N possibly damaging Het
Anapc4 A T 5: 52,993,072 (GRCm39) N61I possibly damaging Het
Ap5m1 T C 14: 49,311,218 (GRCm39) V96A probably damaging Het
Atr T A 9: 95,747,290 (GRCm39) C191S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Fcer2a A T 8: 3,738,603 (GRCm39) probably null Het
Fgfr3 A G 5: 33,887,343 (GRCm39) T221A probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Ip6k3 A T 17: 27,364,154 (GRCm39) L298Q possibly damaging Het
Itpr1 A G 6: 108,409,647 (GRCm39) D1727G probably damaging Het
Kdm2b T C 5: 123,026,688 (GRCm39) T589A possibly damaging Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Mvb12a G T 8: 71,996,103 (GRCm39) A86S probably benign Het
Nktr T A 9: 121,577,949 (GRCm39) probably benign Het
Or1e33 A T 11: 73,738,521 (GRCm39) C143* probably null Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Parp4 T A 14: 56,889,761 (GRCm39) N1847K unknown Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc7a5 A T 8: 122,614,234 (GRCm39) probably null Het
Slc7a9 A T 7: 35,152,845 (GRCm39) T88S probably damaging Het
Tbrg1 T A 9: 37,565,691 (GRCm39) E87V probably damaging Het
Tnfsf4 T C 1: 161,244,745 (GRCm39) S145P probably damaging Het
Tomm34 C A 2: 163,896,292 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,150 (GRCm39) N647S probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Vmn2r23 A T 6: 123,679,884 (GRCm39) Q35H probably damaging Het
Wdtc1 C T 4: 133,036,130 (GRCm39) V137M probably damaging Het
Zfp276 G A 8: 123,991,666 (GRCm39) probably null Het
Zfp90 C T 8: 107,151,496 (GRCm39) P403L possibly damaging 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
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
R6382:Cnot6l UTSW 5 96,276,858 (GRCm39) missense probably damaging 0.99
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'- TGTTAAAGGGGCAGAAATTACCTG -3'
(R):5'- TGTTAGCCTGACAGTATAACTACCC -3'

Sequencing Primer
(F):5'- GGGGCAGAAATTACCTGTTAAG -3'
(R):5'- CCCAAGTTATCTGAATATATGTGCC -3'
Posted On 2015-07-21