Incidental Mutation 'IGL02074:Cnot6'
ID185928
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 #IGL02074
Quality Score
Status
Chromosome11
Chromosomal Location49671503-49712723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49689243 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 74 (H74R)
Ref Sequence ENSEMBL: ENSMUSP00000121239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020624] [ENSMUST00000145353]
Predicted Effect probably benign
Transcript: ENSMUST00000020624
AA Change: H74R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: H74R

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: H74R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: H74R

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Ankrd33b C A 15: 31,297,661 V317F probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Nexmif A T X: 104,087,891 M140K probably damaging Het
Olfr543 G T 7: 102,477,472 H133N probably benign Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ttr T C 18: 20,666,523 V46A probably benign Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Other mutations in Cnot6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Cnot6 APN 11 49685266 missense probably benign 0.01
IGL00969:Cnot6 APN 11 49685120 missense probably benign
IGL01655:Cnot6 APN 11 49677304 missense probably damaging 1.00
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 On2014-05-07