Incidental Mutation 'R0448:Cnot6l'
ID 39434
Institutional Source Beutler Lab
Gene Symbol Cnot6l
Ensembl Gene ENSMUSG00000034724
Gene Name CCR4-NOT transcription complex, subunit 6-like
Synonyms
MMRRC Submission 038648-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # R0448 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 96070333-96164171 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96080046 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 443 (S443C)
Ref Sequence ENSEMBL: ENSMUSP00000119415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000155901]
AlphaFold Q8VEG6
Predicted Effect probably benign
Transcript: ENSMUST00000036646
Predicted Effect probably benign
Transcript: ENSMUST00000113005
AA Change: S448C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: S448C

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 probably benign
Transcript: ENSMUST00000122003
SMART Domains Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724

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 probably benign
Transcript: ENSMUST00000155901
AA Change: S443C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: S443C

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 0.2922 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,933,057 (GRCm38) S643C probably damaging Het
9530053A07Rik T C 7: 28,140,235 (GRCm38) I491T probably benign Het
Abcc5 G A 16: 20,399,937 (GRCm38) R232C probably damaging Het
Adam9 A G 8: 24,964,910 (GRCm38) S732P probably damaging Het
Add2 G A 6: 86,092,919 (GRCm38) V140I probably benign Het
Ahi1 G A 10: 20,972,075 (GRCm38) G461S probably damaging Het
Arhgef7 A G 8: 11,819,659 (GRCm38) T432A possibly damaging Het
Arsi T C 18: 60,917,302 (GRCm38) I419T probably damaging Het
Brca1 G A 11: 101,508,221 (GRCm38) P1515L possibly damaging Het
Brcc3 T A X: 75,450,041 (GRCm38) L222* probably null Het
Brpf3 A T 17: 28,806,036 (GRCm38) T28S probably benign Het
Cdc20b T A 13: 113,078,657 (GRCm38) V253E probably damaging Het
Copg1 G A 6: 87,904,926 (GRCm38) A587T probably benign Het
Crebrf A G 17: 26,743,102 (GRCm38) D391G probably benign Het
Crocc A T 4: 141,042,191 (GRCm38) D283E probably damaging Het
Cryga T C 1: 65,103,159 (GRCm38) N25S probably benign Het
Csnk1g1 T C 9: 65,980,948 (GRCm38) F90L possibly damaging Het
Cyp2j6 A G 4: 96,545,728 (GRCm38) V115A probably benign Het
Cyp3a11 T C 5: 145,862,394 (GRCm38) I328V probably benign Het
Dchs1 C A 7: 105,765,927 (GRCm38) E683D probably benign Het
Dnah9 T C 11: 65,918,713 (GRCm38) probably benign Het
Dqx1 T C 6: 83,060,345 (GRCm38) S330P probably damaging Het
Epg5 A G 18: 78,023,365 (GRCm38) Y2160C probably damaging Het
Ercc5 T C 1: 44,173,940 (GRCm38) L742P probably damaging Het
Flt1 C T 5: 147,566,394 (GRCm38) probably benign Het
Gm9513 T A 9: 36,477,116 (GRCm38) M79K probably benign Het
Grip2 A G 6: 91,779,213 (GRCm38) S498P probably damaging Het
H2-T22 A G 17: 36,042,386 (GRCm38) L14P possibly damaging Het
Hephl1 C T 9: 15,076,926 (GRCm38) G629S probably damaging Het
Hsdl2 T A 4: 59,606,523 (GRCm38) M162K unknown Het
Kcnh8 C A 17: 52,977,620 (GRCm38) probably null Het
Krt76 T C 15: 101,890,647 (GRCm38) Q201R probably damaging Het
Lrpprc A T 17: 84,770,894 (GRCm38) Y319N probably benign Het
Lrrk2 T G 15: 91,709,305 (GRCm38) I489R probably damaging Het
Mboat1 G T 13: 30,202,410 (GRCm38) D136Y probably damaging Het
Mcmdc2 T C 1: 9,940,542 (GRCm38) *682Q probably null Het
Msx2 C A 13: 53,468,395 (GRCm38) R193L probably damaging Het
Nfatc4 T G 14: 55,831,654 (GRCm38) D625E possibly damaging Het
Nup153 T C 13: 46,717,181 (GRCm38) E86G probably benign Het
Olfr1295 T A 2: 111,565,214 (GRCm38) I77F probably benign Het
Olfr130 G T 17: 38,067,672 (GRCm38) R167L probably benign Het
Pard3b T C 1: 62,166,469 (GRCm38) L474P probably damaging Het
Pggt1b A T 18: 46,262,972 (GRCm38) probably benign Het
Pik3r2 A G 8: 70,772,044 (GRCm38) probably benign Het
Prr14 A G 7: 127,474,726 (GRCm38) probably benign Het
Rcbtb2 T C 14: 73,178,429 (GRCm38) probably benign Het
Rufy2 G A 10: 63,004,736 (GRCm38) D429N probably benign Het
S1pr5 T A 9: 21,244,207 (GRCm38) T308S probably damaging Het
Sephs1 A G 2: 4,899,560 (GRCm38) T250A probably benign Het
Serpina12 A G 12: 104,038,095 (GRCm38) S93P probably benign Het
Serpinb1b T G 13: 33,089,692 (GRCm38) H123Q probably benign Het
Sftpc C T 14: 70,522,680 (GRCm38) V46I probably benign Het
Skint8 T A 4: 111,936,890 (GRCm38) V159D probably damaging Het
Slc25a11 T C 11: 70,645,579 (GRCm38) N134S probably benign Het
Slc25a24 T C 3: 109,157,016 (GRCm38) probably benign Het
Sorl1 C G 9: 42,004,088 (GRCm38) V1282L probably damaging Het
Sptan1 T A 2: 30,026,810 (GRCm38) I2170N probably damaging Het
Syne4 A G 7: 30,314,920 (GRCm38) probably benign Het
Tcam1 G A 11: 106,284,078 (GRCm38) E120K probably benign Het
Tg C A 15: 66,764,442 (GRCm38) P626Q probably damaging Het
Thoc6 T A 17: 23,669,576 (GRCm38) D196V probably damaging Het
Tpi1 A G 6: 124,814,103 (GRCm38) F57S probably damaging Het
Tril A G 6: 53,817,808 (GRCm38) *810Q probably null Het
Trrap T A 5: 144,839,567 (GRCm38) V2972D possibly damaging Het
Ttn A T 2: 76,761,280 (GRCm38) V12688E probably damaging Het
Ttn T C 2: 76,720,939 (GRCm38) M31370V probably damaging Het
Txndc11 A G 16: 11,091,761 (GRCm38) F307S probably damaging Het
Vmn1r40 C T 6: 89,714,660 (GRCm38) S153L probably benign Het
Vmn2r95 A G 17: 18,451,743 (GRCm38) T581A possibly damaging Het
Wdtc1 A G 4: 133,297,500 (GRCm38) F462S probably damaging Het
Zfp101 A G 17: 33,382,321 (GRCm38) S154P possibly damaging Het
Zmym6 A G 4: 127,108,694 (GRCm38) N481D probably benign Het
Other mutations in Cnot6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Cnot6l APN 5 96,086,246 (GRCm38) missense probably damaging 1.00
IGL02102:Cnot6l APN 5 96,091,659 (GRCm38) missense probably damaging 0.98
BB005:Cnot6l UTSW 5 96,131,068 (GRCm38) missense possibly damaging 0.95
BB015:Cnot6l UTSW 5 96,131,068 (GRCm38) missense possibly damaging 0.95
R0443:Cnot6l UTSW 5 96,091,745 (GRCm38) splice site probably benign
R1436:Cnot6l UTSW 5 96,134,112 (GRCm38) missense probably damaging 1.00
R2198:Cnot6l UTSW 5 96,079,941 (GRCm38) missense possibly damaging 0.79
R4240:Cnot6l UTSW 5 96,077,362 (GRCm38) missense probably benign
R4506:Cnot6l UTSW 5 96,086,174 (GRCm38) missense possibly damaging 0.93
R4624:Cnot6l UTSW 5 96,077,211 (GRCm38) missense probably benign 0.05
R4627:Cnot6l UTSW 5 96,077,211 (GRCm38) missense probably benign 0.05
R4629:Cnot6l UTSW 5 96,077,211 (GRCm38) missense probably benign 0.05
R4868:Cnot6l UTSW 5 96,083,023 (GRCm38) missense probably damaging 1.00
R4936:Cnot6l UTSW 5 96,079,937 (GRCm38) missense probably damaging 1.00
R5597:Cnot6l UTSW 5 96,131,119 (GRCm38) missense probably damaging 1.00
R5781:Cnot6l UTSW 5 96,086,165 (GRCm38) missense probably benign 0.31
R6142:Cnot6l UTSW 5 96,082,978 (GRCm38) missense probably benign 0.00
R6166:Cnot6l UTSW 5 96,079,940 (GRCm38) missense possibly damaging 0.79
R6189:Cnot6l UTSW 5 96,098,277 (GRCm38) missense probably benign 0.18
R6382:Cnot6l UTSW 5 96,128,999 (GRCm38) missense probably damaging 0.99
R6515:Cnot6l UTSW 5 96,161,678 (GRCm38) intron probably benign
R6773:Cnot6l UTSW 5 96,094,299 (GRCm38) missense probably damaging 1.00
R7326:Cnot6l UTSW 5 96,077,299 (GRCm38) missense probably benign 0.00
R7466:Cnot6l UTSW 5 96,131,128 (GRCm38) missense probably benign 0.01
R7832:Cnot6l UTSW 5 96,094,225 (GRCm38) missense possibly damaging 0.90
R7928:Cnot6l UTSW 5 96,131,068 (GRCm38) missense possibly damaging 0.95
R8310:Cnot6l UTSW 5 96,091,676 (GRCm38) missense probably benign
R8499:Cnot6l UTSW 5 96,077,317 (GRCm38) missense probably damaging 1.00
R8698:Cnot6l UTSW 5 96,077,290 (GRCm38) missense probably damaging 1.00
R9029:Cnot6l UTSW 5 96,098,277 (GRCm38) missense probably benign 0.18
R9100:Cnot6l UTSW 5 96,083,016 (GRCm38) missense probably damaging 1.00
R9377:Cnot6l UTSW 5 96,128,967 (GRCm38) missense probably benign 0.01
R9485:Cnot6l UTSW 5 96,082,999 (GRCm38) missense probably damaging 0.99
R9685:Cnot6l UTSW 5 96,082,890 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGGCAGCCCTGAAAACTCTTC -3'
(R):5'- GTCAAGACCTTTCTGGTGAATGCTCTC -3'

Sequencing Primer
(F):5'- GCCCTGAAAACTCTTCATCATC -3'
(R):5'- gcctgcctttctgcttcc -3'
Posted On 2013-05-23