Incidental Mutation 'R4202:Cnot6'
ID 318801
Institutional Source Beutler Lab
Gene Symbol Cnot6
Ensembl Gene ENSMUSG00000020362
Gene Name CCR4-NOT transcription complex, subunit 6
Synonyms A230103N10Rik
MMRRC Submission 041032-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R4202 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49562330-49603550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49593463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 6 (Y6C)
Ref Sequence ENSEMBL: ENSMUSP00000121239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020624] [ENSMUST00000145353]
AlphaFold Q8K3P5
Predicted Effect probably damaging
Transcript: ENSMUST00000020624
AA Change: Y6C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: Y6C

DomainStartEndE-ValueType
LRR 50 72 1.41e0 SMART
LRR_TYP 73 95 2.71e-2 SMART
LRR_TYP 96 119 1.67e-2 SMART
Pfam:Exo_endo_phos 187 526 1.9e-23 PFAM
low complexity region 529 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120146
Predicted Effect probably damaging
Transcript: ENSMUST00000145353
AA Change: Y6C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: Y6C

DomainStartEndE-ValueType
LRR 50 72 1.41e0 SMART
LRR_TYP 73 95 2.71e-2 SMART
LRR_TYP 96 119 1.67e-2 SMART
Pfam:Exo_endo_phos 192 531 1.9e-23 PFAM
low complexity region 534 547 N/A INTRINSIC
Meta Mutation Damage Score 0.4165 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (33/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl C T 15: 80,836,417 (GRCm39) T58I probably damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Ap2b1 T A 11: 83,226,430 (GRCm39) probably null Het
Bclaf3 T A X: 158,336,829 (GRCm39) S419T probably damaging Het
Bysl A G 17: 47,915,251 (GRCm39) S166P probably benign Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdc42bpb G A 12: 111,260,573 (GRCm39) P1702S probably benign Het
Cfap65 G T 1: 74,959,701 (GRCm39) F816L probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Gmeb2 A G 2: 180,895,766 (GRCm39) V468A possibly damaging Het
Gucy2g A G 19: 55,218,201 (GRCm39) S416P possibly damaging Het
Hormad1 G A 3: 95,492,509 (GRCm39) R362H probably benign Het
Lancl2 T A 6: 57,689,977 (GRCm39) V61D probably benign Het
Lta4h A G 10: 93,306,669 (GRCm39) D287G probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Or6c206 T C 10: 129,097,646 (GRCm39) V272A probably benign Het
Or7a42 T C 10: 78,791,129 (GRCm39) V30A probably benign Het
Osbpl9 G T 4: 109,029,437 (GRCm39) probably benign Het
Oser1 T C 2: 163,253,375 (GRCm39) T45A probably benign Het
Pip4p1 A G 14: 51,168,112 (GRCm39) S41P probably damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Prss43 T A 9: 110,656,529 (GRCm39) V72D probably benign Het
Sdhb T A 4: 140,706,379 (GRCm39) M272K possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tas2r138 T C 6: 40,589,410 (GRCm39) M279V possibly damaging Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Vmn2r87 T C 10: 130,308,448 (GRCm39) I597V probably benign Het
Wnt5b T C 6: 119,417,272 (GRCm39) N198D probably damaging Het
Other mutations in Cnot6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Cnot6 APN 11 49,576,093 (GRCm39) missense probably benign 0.01
IGL00969:Cnot6 APN 11 49,575,947 (GRCm39) missense probably benign
IGL01655:Cnot6 APN 11 49,568,131 (GRCm39) missense probably damaging 1.00
IGL02074:Cnot6 APN 11 49,580,070 (GRCm39) missense probably benign 0.00
IGL02670:Cnot6 APN 11 49,575,941 (GRCm39) nonsense probably null
R0326:Cnot6 UTSW 11 49,568,263 (GRCm39) missense probably damaging 1.00
R0625:Cnot6 UTSW 11 49,573,998 (GRCm39) missense probably damaging 1.00
R1079:Cnot6 UTSW 11 49,575,930 (GRCm39) missense probably benign 0.01
R3820:Cnot6 UTSW 11 49,579,999 (GRCm39) missense probably benign 0.04
R3821:Cnot6 UTSW 11 49,579,999 (GRCm39) missense probably benign 0.04
R3822:Cnot6 UTSW 11 49,579,999 (GRCm39) missense probably benign 0.04
R4515:Cnot6 UTSW 11 49,593,363 (GRCm39) splice site probably null
R6010:Cnot6 UTSW 11 49,574,066 (GRCm39) nonsense probably null
R6193:Cnot6 UTSW 11 49,570,850 (GRCm39) missense probably benign 0.06
R7149:Cnot6 UTSW 11 49,570,970 (GRCm39) missense probably benign
R7501:Cnot6 UTSW 11 49,576,159 (GRCm39) missense probably benign 0.01
R7556:Cnot6 UTSW 11 49,566,144 (GRCm39) missense probably benign 0.15
R8263:Cnot6 UTSW 11 49,573,002 (GRCm39) missense probably damaging 0.99
R8398:Cnot6 UTSW 11 49,593,445 (GRCm39) missense probably damaging 1.00
R8497:Cnot6 UTSW 11 49,566,191 (GRCm39) missense possibly damaging 0.46
R8519:Cnot6 UTSW 11 49,575,941 (GRCm39) missense probably benign
R9683:Cnot6 UTSW 11 49,580,164 (GRCm39) missense possibly damaging 0.93
RF003:Cnot6 UTSW 11 49,593,440 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTAAAGTACCGCTGTTGCTC -3'
(R):5'- CTCCAGGGTTTAATCAGCCATATCC -3'

Sequencing Primer
(F):5'- GCTGTTGCTCTTCTACATGCAGTAG -3'
(R):5'- GGGTTTAATCAGCCATATCCTAGAAC -3'
Posted On 2015-06-10