|Institutional Source||Beutler Lab|
|Gene Name||CCR4-NOT transcription complex, subunit 9|
|Synonyms||FL10, Rqcd1, 2610007F23Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7082 (G1)|
|Chromosomal Location||74506058-74530842 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 74527006 bp|
|Amino Acid Change||Isoleucine to Methionine at position 185 (I185M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087215] [ENSMUST00000189257]|
|Predicted Effect||probably damaging
AA Change: I185M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I185M
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (88/88)|
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||
|Other mutations in Cnot9||
(F):5'- TAGGTACTTTGTGGACTCAATAGG -3'
(R):5'- CGTACCTGGCCAAGTGTTATTTC -3'
(F):5'- CCTTGTCTACAAAGTGAGTTCCAGG -3'
(R):5'- CCTGGCCAAGTGTTATTTCTAGTTAG -3'