Incidental Mutation 'IGL00546:Cnot6'
ID4609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot6
Ensembl Gene ENSMUSG00000020362
Gene NameCCR4-NOT transcription complex, subunit 6
SynonymsA230103N10Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.416) question?
Stock #IGL00546
Quality Score
Status
Chromosome11
Chromosomal Location49671503-49712723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49685266 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 158 (S158T)
Ref Sequence ENSEMBL: ENSMUSP00000121239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020624] [ENSMUST00000145353]
Predicted Effect probably benign
Transcript: ENSMUST00000020624
AA Change: S158T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: S158T

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 probably benign
Transcript: ENSMUST00000145353
AA Change: S158T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: S158T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151090
Coding Region Coverage
Validation Efficiency
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,090,576 V127A possibly damaging Het
9130008F23Rik C A 17: 40,880,113 V142L possibly damaging Het
Adnp2 T C 18: 80,128,867 T776A probably benign Het
Arid4a T A 12: 71,075,671 V942E probably benign Het
Bdnf C T 2: 109,723,547 P89S probably benign Het
Camsap3 A G 8: 3,602,077 D302G probably damaging Het
Dbt A C 3: 116,539,281 K250Q probably benign Het
Exd2 A G 12: 80,480,547 I171M probably benign Het
Gm5415 A T 1: 32,546,667 M54K probably benign Het
Ints14 A T 9: 64,972,792 N196I probably benign Het
Krt79 G T 15: 101,929,873 N482K probably benign Het
Loxhd1 G A 18: 77,405,976 A678T probably damaging Het
Mkl2 C A 16: 13,403,222 A754D probably benign Het
Mkl2 T G 16: 13,403,225 L766R possibly damaging Het
Mrpl51 A G 6: 125,193,214 probably benign Het
Nipsnap1 A G 11: 4,889,098 E126G possibly damaging Het
Plxnb2 A G 15: 89,162,366 probably benign Het
Slc15a5 A G 6: 138,043,538 Y266H probably damaging Het
Ttn C A 2: 76,867,473 D73Y probably damaging Het
Other mutations in Cnot6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Cnot6 APN 11 49685120 missense probably benign
IGL01655:Cnot6 APN 11 49677304 missense probably damaging 1.00
IGL02074:Cnot6 APN 11 49689243 missense probably benign 0.00
IGL02670:Cnot6 APN 11 49685114 nonsense probably null
R0326:Cnot6 UTSW 11 49677436 missense probably damaging 1.00
R0625:Cnot6 UTSW 11 49683171 missense probably damaging 1.00
R1079:Cnot6 UTSW 11 49685103 missense probably benign 0.01
R3820:Cnot6 UTSW 11 49689172 missense probably benign 0.04
R3821:Cnot6 UTSW 11 49689172 missense probably benign 0.04
R3822:Cnot6 UTSW 11 49689172 missense probably benign 0.04
R4202:Cnot6 UTSW 11 49702636 missense probably damaging 1.00
R4515:Cnot6 UTSW 11 49702536 splice site probably null
R6010:Cnot6 UTSW 11 49683239 nonsense probably null
R6193:Cnot6 UTSW 11 49680023 missense probably benign 0.06
R7149:Cnot6 UTSW 11 49680143 missense probably benign
R7501:Cnot6 UTSW 11 49685332 missense probably benign 0.01
R7556:Cnot6 UTSW 11 49675317 missense probably benign 0.15
R8263:Cnot6 UTSW 11 49682175 missense probably damaging 0.99
RF003:Cnot6 UTSW 11 49702613 missense probably benign 0.01
Posted On2012-04-20