Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Cnot9'

321587

Institutional Source

Beutler Lab

Gene Symbol

Cnot9

Ensembl Gene

ENSMUSG00000026174

Gene Name

CCR4-NOT transcription complex, subunit 9

Synonyms

2610007F23Rik, Rqcd1, FL10

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4163 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

74545217-74570001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74568006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 298 (P298L)

Ref Sequence

ENSEMBL: ENSMUSP00000084466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087215] [ENSMUST00000189257]

AlphaFold

Q9JKY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000087215
AA Change: P298L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: P298L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.0786

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Cnot9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6060:Cnot9	UTSW	1	74,556,285 (GRCm39)	missense	probably benign	0.00
R6165:Cnot9	UTSW	1	74,567,952 (GRCm39)	missense	probably benign	0.03
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'- GCCATGGATTCCTAGGAAATTG -3'
(R):5'- AATTCCTGGGAGCAGTAGGG -3'

Sequencing Primer
(F):5'- TTATATCTAAGAAAGGGGGTCTTCC -3'
(R):5'- AGTAGGGGGATCCAGGACCTC -3'

Posted On

2015-06-12