Incidental Mutation 'R6193:Cnot6'
ID 502733
Institutional Source Beutler Lab
Gene Symbol Cnot6
Ensembl Gene ENSMUSG00000020362
Gene Name CCR4-NOT transcription complex, subunit 6
Synonyms A230103N10Rik
MMRRC Submission 044333-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R6193 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 49562330-49603550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49570850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 381 (I381F)
Ref Sequence ENSEMBL: ENSMUSP00000020624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020624] [ENSMUST00000145353]
AlphaFold Q8K3P5
Predicted Effect probably benign
Transcript: ENSMUST00000020624
AA Change: I381F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: I381F

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: ENSMUST00000118307
Predicted Effect probably benign
Transcript: ENSMUST00000145353
AA Change: I386F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: I386F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A G 15: 60,792,629 (GRCm39) I106T probably benign Het
Aagab A C 9: 63,524,795 (GRCm39) N35H possibly damaging Het
Abcf1 A C 17: 36,274,464 (GRCm39) N161K possibly damaging Het
Adam11 T A 11: 102,662,087 (GRCm39) H140Q probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef26 A T 3: 62,247,213 (GRCm39) D99V possibly damaging Het
Arhgef28 A G 13: 98,121,888 (GRCm39) S559P probably damaging Het
Capn11 A G 17: 45,964,430 (GRCm39) probably null Het
Ccdc157 T C 11: 4,101,912 (GRCm39) H3R probably damaging Het
Cd101 A G 3: 100,927,778 (GRCm39) L101P probably damaging Het
Clca3a1 A G 3: 144,464,993 (GRCm39) V80A possibly damaging Het
Cntn3 T A 6: 102,185,092 (GRCm39) I675F probably benign Het
Cplx2 C T 13: 54,527,406 (GRCm39) P97S probably damaging Het
Crtac1 T A 19: 42,312,236 (GRCm39) E159V possibly damaging Het
Cyp27a1 A G 1: 74,776,231 (GRCm39) I416V probably benign Het
Cyp2d37-ps T C 15: 82,574,014 (GRCm39) noncoding transcript Het
Cyp2d9 A G 15: 82,336,728 (GRCm39) T26A probably benign Het
Cyp2j7 T A 4: 96,083,440 (GRCm39) R503S probably damaging Het
Dclk1 A T 3: 55,424,292 (GRCm39) probably null Het
Dgkq A T 5: 108,803,366 (GRCm39) C231* probably null Het
Dync1i1 T A 6: 5,730,679 (GRCm39) M38K probably benign Het
Eif2ak4 C T 2: 118,231,081 (GRCm39) probably benign Het
Ephx2 A T 14: 66,326,961 (GRCm39) D411E probably benign Het
Ephx2 T G 14: 66,349,669 (GRCm39) Q34P probably benign Het
Fer1l5 A T 1: 36,448,517 (GRCm39) N1092Y probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fzd4 A T 7: 89,057,197 (GRCm39) K415* probably null Het
Gfi1 A T 5: 107,869,397 (GRCm39) Y278N probably benign Het
Gm11565 T C 11: 99,806,070 (GRCm39) M154T probably benign Het
Gm7247 A G 14: 51,759,299 (GRCm39) I93V possibly damaging Het
Golm1 T G 13: 59,792,972 (GRCm39) I178L probably benign Het
Grip1 A T 10: 119,874,219 (GRCm39) D302V probably damaging Het
Gtf2h1 G A 7: 46,456,254 (GRCm39) probably null Het
Herc2 C A 7: 55,806,649 (GRCm39) P2372T probably damaging Het
Ighv1-59 C A 12: 115,298,786 (GRCm39) L89F probably damaging Het
Ighv7-4 G A 12: 114,186,445 (GRCm39) A109V possibly damaging Het
Kcnk10 G T 12: 98,407,031 (GRCm39) Q222K probably benign Het
Klra6 A T 6: 129,995,881 (GRCm39) M159K probably benign Het
Lzts3 T C 2: 130,479,306 (GRCm39) T36A probably damaging Het
Mgam T A 6: 40,724,854 (GRCm39) Y443* probably null Het
Mmp23 T A 4: 155,735,990 (GRCm39) M221L possibly damaging Het
Mmp7 T A 9: 7,695,519 (GRCm39) V132E probably damaging Het
Npas2 C A 1: 39,331,843 (GRCm39) T86N probably damaging Het
Or1e32 T A 11: 73,705,650 (GRCm39) H86L probably benign Het
Or5al7 C T 2: 85,992,628 (GRCm39) V222M possibly damaging Het
Papola A T 12: 105,786,605 (GRCm39) E103V probably benign Het
Parp9 A T 16: 35,767,921 (GRCm39) N34Y possibly damaging Het
Pcdh7 A G 5: 57,877,666 (GRCm39) D407G probably damaging Het
Pcdhb5 T G 18: 37,455,080 (GRCm39) Y487D probably damaging Het
Pira12 C G 7: 3,901,049 (GRCm39) probably null Het
Pla2g4a T C 1: 149,778,181 (GRCm39) D5G probably damaging Het
Plxnb1 T C 9: 108,933,971 (GRCm39) L733P probably benign Het
Ppfia4 T C 1: 134,251,899 (GRCm39) D425G probably benign Het
Prss2 T G 6: 41,498,754 (GRCm39) I6S unknown Het
Psme3ip1 A G 8: 95,302,348 (GRCm39) S228P probably damaging Het
Qrfprl T A 6: 65,433,142 (GRCm39) F321I probably damaging Het
Qrich2 T A 11: 116,344,979 (GRCm39) I1693L probably benign Het
Rad52 T C 6: 119,897,143 (GRCm39) V324A probably benign Het
Rapgef2 A T 3: 78,976,751 (GRCm39) Y1352N possibly damaging Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Scaf1 A G 7: 44,656,204 (GRCm39) probably benign Het
Sfxn5 T C 6: 85,246,918 (GRCm39) T131A probably damaging Het
Slc4a10 T G 2: 62,073,701 (GRCm39) probably null Het
Spmap2l A G 5: 77,164,183 (GRCm39) D62G possibly damaging Het
Syt1 A G 10: 108,336,597 (GRCm39) V357A probably benign Het
Tenm2 T A 11: 35,937,621 (GRCm39) D1685V probably damaging Het
Tmc3 A G 7: 83,252,543 (GRCm39) T315A probably benign Het
Tmem266 T C 9: 55,344,493 (GRCm39) L375P probably benign Het
Tsks T G 7: 44,603,263 (GRCm39) L355R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ube2f T A 1: 91,203,041 (GRCm39) probably null Het
Usp37 A T 1: 74,532,087 (GRCm39) V102D probably damaging Het
Usp44 G A 10: 93,683,010 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,575,983 (GRCm39) F527S probably benign Het
Zfp101 A C 17: 33,600,720 (GRCm39) Y345* probably null Het
Zfp160 C A 17: 21,247,124 (GRCm39) A558E probably benign Het
Zfp236 T C 18: 82,622,372 (GRCm39) E1686G probably damaging Het
Zfp655 T A 5: 145,181,586 (GRCm39) D481E probably benign Het
Zswim4 A G 8: 84,952,774 (GRCm39) V396A probably benign 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
R4202:Cnot6 UTSW 11 49,593,463 (GRCm39) missense probably damaging 1.00
R4515:Cnot6 UTSW 11 49,593,363 (GRCm39) splice site probably null
R6010:Cnot6 UTSW 11 49,574,066 (GRCm39) nonsense probably null
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'- CTGTACACAGCTGCCACTAC -3'
(R):5'- GACCAATGAGCAGGTTATGTCTG -3'

Sequencing Primer
(F):5'- GCACTTGTGCACAGATATGC -3'
(R):5'- ATTGGGACCCTGAGTACT -3'
Posted On 2018-02-27