Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Cnot9'

168752

Institutional Source

Beutler Lab

Gene Symbol

Cnot9

Ensembl Gene

ENSMUSG00000026174

Gene Name

CCR4-NOT transcription complex, subunit 9

Synonyms

2610007F23Rik, Rqcd1, FL10

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74545217-74570001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74562759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 176 (E176G)

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: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: E176G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,614,356 (GRCm39)	N488S	probably benign	Het
Acot10	G	A	15: 20,665,593 (GRCm39)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,177,349 (GRCm39)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,944,654 (GRCm39)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Agt	A	G	8: 125,286,194 (GRCm39)	F296S	probably damaging	Het
Akap14	T	C	X: 36,427,618 (GRCm39)	D39G	possibly damaging	Het
Akt3	T	C	1: 176,930,608 (GRCm39)	M117V	probably benign	Het
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,207,251 (GRCm39)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,599,332 (GRCm39)	K724*	probably null	Het
Ccdc91	A	G	6: 147,435,670 (GRCm39)	T85A	possibly damaging	Het
Ccdc9b	T	G	2: 118,591,013 (GRCm39)	K173N	probably damaging	Het
Cdh3	C	T	8: 107,265,629 (GRCm39)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,426,876 (GRCm39)	I482V	probably benign	Het
Cntnap4	T	G	8: 113,608,395 (GRCm39)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,869,605 (GRCm39)	M1K	probably null	Het
Cyp2c23	A	G	19: 43,993,947 (GRCm39)	I473T	probably benign	Het
Dbil5	T	A	11: 76,109,276 (GRCm39)	M60K	probably benign	Het
Defa38	T	A	8: 21,585,217 (GRCm39)	Q75L	probably benign	Het
Dgkg	A	T	16: 22,319,129 (GRCm39)	L644Q	probably damaging	Het
Disp3	T	C	4: 148,334,282 (GRCm39)	I1004V	probably benign	Het
Egf	T	A	3: 129,506,655 (GRCm39)	I599F	probably damaging	Het
Epc2	A	G	2: 49,426,675 (GRCm39)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,313,316 (GRCm39)	V622E	probably benign	Het
Fam227a	C	T	15: 79,510,446 (GRCm39)	V403I	probably benign	Het
Fat2	T	A	11: 55,153,499 (GRCm39)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,886,358 (GRCm39)		probably null	Het
Fras1	A	G	5: 96,676,445 (GRCm39)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,366,832 (GRCm39)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,045,771 (GRCm39)	N113S	probably damaging	Het
Glg1	T	C	8: 111,924,307 (GRCm39)	Y227C	probably damaging	Het
Gm5141	A	T	13: 62,922,084 (GRCm39)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,504,533 (GRCm39)	T104S	probably benign	Het
Jph1	A	C	1: 17,161,876 (GRCm39)	V262G	probably benign	Het
Kank1	C	G	19: 25,387,713 (GRCm39)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,704,325 (GRCm39)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,482,308 (GRCm39)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm39)	W77L	probably null	Het
Nipbl	T	G	15: 8,380,764 (GRCm39)	N676T	probably benign	Het
Obscn	C	T	11: 58,970,986 (GRCm39)	S2300N	probably damaging	Het
Or9a2	T	G	6: 41,748,837 (GRCm39)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,891,896 (GRCm39)	M350L	probably benign	Het
Pecam1	T	C	11: 106,579,682 (GRCm39)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 115,987,300 (GRCm39)	K540N	probably benign	Het
Prdm12	T	A	2: 31,530,205 (GRCm39)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,413,135 (GRCm39)	S679G	probably damaging	Het
Psen2	C	T	1: 180,056,419 (GRCm39)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,583,888 (GRCm39)	T235S	probably benign	Het
Ranbp3	C	T	17: 57,012,527 (GRCm39)	P182L	probably benign	Het
Serpinb7	A	T	1: 107,379,390 (GRCm39)	K266*	probably null	Het
Sesn3	T	C	9: 14,219,817 (GRCm39)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,184,535 (GRCm39)	M818T	probably damaging	Het
Slc25a53	C	A	X: 135,916,084 (GRCm39)	C4F	unknown	Het
Snx1	T	A	9: 66,003,879 (GRCm39)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,769,004 (GRCm39)	S46A	possibly damaging	Het
Taf4	A	G	2: 179,574,820 (GRCm39)	F595S	probably damaging	Het
Tec	A	T	5: 72,944,098 (GRCm39)	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,121,136 (GRCm39)	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,675,675 (GRCm39)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm39)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm39)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 56,980,058 (GRCm39)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,476,728 (GRCm39)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,123,410 (GRCm39)	P186S	probably 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
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
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'- GGATTCCCTGACACAGAAACTACAGTC -3'
(R):5'- AGCCGAAGTTGTCTTTATCTTCACACC -3'

Sequencing Primer
(F):5'- CTGACACAGAAACTACAGTCTGTATG -3'
(R):5'- tcccagcaaccacatcac -3'

Posted On

2014-04-13