Incidental Mutation 'R6165:Cnot9'
ID 490078
Institutional Source Beutler Lab
Gene Symbol Cnot9
Ensembl Gene ENSMUSG00000026174
Gene Name CCR4-NOT transcription complex, subunit 9
Synonyms 2610007F23Rik, Rqcd1, FL10
MMRRC Submission 044311-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6165 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74545217-74570001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74567952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000084466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087215] [ENSMUST00000189257]
AlphaFold Q9JKY0
Predicted Effect probably benign
Transcript: ENSMUST00000087215
AA Change: V280A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: V280A

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Rcd1 25 283 2e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147810
Predicted Effect probably benign
Transcript: ENSMUST00000189257
SMART Domains Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364

DomainStartEndE-ValueType
PDB:3U12|B 4 125 2e-71 PDB
low complexity region 182 200 N/A INTRINSIC
Pfam:UCH_1 341 608 4.3e-19 PFAM
low complexity region 628 646 N/A INTRINSIC
UIM 704 723 1.33e1 SMART
UIM 806 825 1.04e-1 SMART
UIM 828 847 2.11e-2 SMART
low complexity region 893 909 N/A INTRINSIC
Meta Mutation Damage Score 0.2487 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Embryos homozygous for an ENU-induced allele exhibit abnormal nervous system and brain morphology, cranioedema, and caudal body truncation. Mice carrying a targeted allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,590,623 (GRCm39) E303G possibly damaging Het
Atosa A G 9: 74,932,954 (GRCm39) T974A probably damaging Het
C2cd5 T C 6: 142,995,954 (GRCm39) T389A possibly damaging Het
Catsperb T A 12: 101,542,075 (GRCm39) Y592N possibly damaging Het
Cfap91 A G 16: 38,154,173 (GRCm39) F124S possibly damaging Het
Cyld A G 8: 89,473,561 (GRCm39) I927V possibly damaging Het
Etfdh A T 3: 79,512,251 (GRCm39) S490T probably benign Het
Fance C T 17: 28,545,068 (GRCm39) R150C probably benign Het
Far1 A G 7: 113,153,425 (GRCm39) K353E probably benign Het
Fbn1 T C 2: 125,174,283 (GRCm39) I1858V probably damaging Het
Frem1 T C 4: 82,874,492 (GRCm39) K1359E probably benign Het
Ghdc T G 11: 100,659,928 (GRCm39) E273A possibly damaging Het
Gpt A G 15: 76,582,170 (GRCm39) D209G probably benign Het
Hspb7 T C 4: 141,149,862 (GRCm39) F83L probably benign Het
Itga7 A G 10: 128,778,804 (GRCm39) I306M probably benign Het
Itgb5 A G 16: 33,719,612 (GRCm39) E261G probably benign Het
Kcnj14 G T 7: 45,469,424 (GRCm39) A27E possibly damaging Het
Kif13b A G 14: 64,979,760 (GRCm39) H470R probably damaging Het
Macroh2a1 A T 13: 56,252,268 (GRCm39) N108K probably damaging Het
Morc3 T C 16: 93,638,271 (GRCm39) F18L probably damaging Het
Mrgprb8 T A 7: 48,038,565 (GRCm39) C79S possibly damaging Het
Mroh2b T A 15: 4,947,832 (GRCm39) M549K probably benign Het
Msl1 T C 11: 98,695,673 (GRCm39) V563A probably damaging Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Or5b124 A T 19: 13,610,507 (GRCm39) I11F possibly damaging Het
Or5b124 C T 19: 13,610,952 (GRCm39) A159V probably benign Het
Phf2 C A 13: 48,967,341 (GRCm39) probably null Het
Pjvk T G 2: 76,480,562 (GRCm39) probably null Het
Rgl2 A G 17: 34,150,739 (GRCm39) T66A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtkn G T 6: 83,122,944 (GRCm39) E67D probably damaging Het
Serpinb9 T A 13: 33,192,807 (GRCm39) F121L possibly damaging Het
Slc34a1 G A 13: 23,999,053 (GRCm39) V149I probably benign Het
Sobp A G 10: 42,898,599 (GRCm39) S329P probably damaging Het
Syne1 A T 10: 5,375,678 (GRCm39) L138Q probably damaging Het
Tfr2 T A 5: 137,578,519 (GRCm39) V449D probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Trank1 T C 9: 111,220,940 (GRCm39) V2559A probably benign Het
Trim35 T C 14: 66,546,654 (GRCm39) Y474H probably damaging Het
Uso1 A T 5: 92,335,126 (GRCm39) L495F probably damaging Het
Wdr24 A G 17: 26,045,395 (GRCm39) I377V probably benign Het
Xpo5 T A 17: 46,546,883 (GRCm39) V878D possibly damaging Het
Zfc3h1 A G 10: 115,256,574 (GRCm39) I1515V probably benign Het
Zfp319 CA C 8: 96,054,733 (GRCm39) 489 probably null Het
Zfp384 T G 6: 125,001,896 (GRCm39) probably null Het
Zfp704 G T 3: 9,508,946 (GRCm39) P416T probably benign Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown Het
Other mutations in Cnot9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Cnot9 APN 1 74,561,533 (GRCm39) missense probably benign 0.00
IGL02066:Cnot9 APN 1 74,566,212 (GRCm39) missense possibly damaging 0.88
Icebreaker UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
R1495:Cnot9 UTSW 1 74,562,759 (GRCm39) missense probably damaging 1.00
R4163:Cnot9 UTSW 1 74,568,006 (GRCm39) missense probably damaging 0.97
R6060:Cnot9 UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
R6914:Cnot9 UTSW 1 74,558,154 (GRCm39) missense probably damaging 1.00
R6942:Cnot9 UTSW 1 74,558,154 (GRCm39) missense probably damaging 1.00
R7082:Cnot9 UTSW 1 74,566,165 (GRCm39) missense probably damaging 1.00
R7224:Cnot9 UTSW 1 74,556,388 (GRCm39) missense probably benign 0.16
R7514:Cnot9 UTSW 1 74,567,921 (GRCm39) missense probably benign
R7772:Cnot9 UTSW 1 74,566,151 (GRCm39) missense probably damaging 0.96
R9000:Cnot9 UTSW 1 74,561,544 (GRCm39) missense probably benign 0.21
R9065:Cnot9 UTSW 1 74,558,142 (GRCm39) nonsense probably null
Z1187:Cnot9 UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
Z1189:Cnot9 UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
Z1190:Cnot9 UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
Z1192:Cnot9 UTSW 1 74,556,285 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTTGTGGGCTACATAACACCTG -3'
(R):5'- AGTTCAGCACTGAGGTTGTC -3'

Sequencing Primer
(F):5'- ACTTGATAGCCATGGATTCCTAGG -3'
(R):5'- AGCACTGAGGTTGTCTATTCCCAG -3'
Posted On 2017-10-10