Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02066:Cnot9'

185634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnot9

Ensembl Gene

ENSMUSG00000026174

Gene Name

CCR4-NOT transcription complex, subunit 9

Synonyms

2610007F23Rik, Rqcd1, FL10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

74545217-74570001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74566212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 201 (Q201R)

Ref Sequence

ENSEMBL: ENSMUSP00000084466 (fasta)

Gene Model

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

AlphaFold

Q9JKY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087215
AA Change: Q201R

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: Q201R

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,626,854 (GRCm39)	C569S	probably damaging	Het
Adck5	T	C	15: 76,479,406 (GRCm39)	V487A	probably damaging	Het
Agfg1	A	G	1: 82,871,279 (GRCm39)	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,326,236 (GRCm39)	T82A	probably damaging	Het
Ano2	T	A	6: 125,667,702 (GRCm39)	L6Q	probably benign	Het
Anp32a	G	A	9: 62,284,615 (GRCm39)		probably benign	Het
Bltp2	G	A	11: 78,164,058 (GRCm39)	R1133H	probably damaging	Het
Cep250	C	A	2: 155,818,441 (GRCm39)	A871D	probably damaging	Het
Chl1	T	C	6: 103,675,185 (GRCm39)	V624A	probably benign	Het
Clasp1	G	A	1: 118,492,990 (GRCm39)		probably null	Het
Clca3a2	T	G	3: 144,519,216 (GRCm39)	D320A	probably benign	Het
Cox4i2	C	T	2: 152,602,602 (GRCm39)	R99C	probably damaging	Het
Csmd1	A	T	8: 15,976,594 (GRCm39)	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,243,203 (GRCm39)	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,241,860 (GRCm39)		probably benign	Het
Eef1d	G	A	15: 75,768,704 (GRCm39)	T464I	probably benign	Het
Efna2	C	T	10: 80,024,500 (GRCm39)		probably benign	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Etaa1	C	A	11: 17,896,687 (GRCm39)	V477L	probably benign	Het
Fam83d	C	T	2: 158,627,793 (GRCm39)	T494M	probably benign	Het
Fbxo24	C	T	5: 137,611,132 (GRCm39)	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,801,379 (GRCm39)	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175 (GRCm39)	T373I	probably benign	Het
Kitl	T	A	10: 99,912,744 (GRCm39)	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,001,091 (GRCm39)	C2044*	probably null	Het
Lrp6	G	T	6: 134,427,900 (GRCm39)	S1564*	probably null	Het
Manea	A	T	4: 26,340,965 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,438,982 (GRCm39)	L168P	probably damaging	Het
Notch1	T	C	2: 26,350,408 (GRCm39)	E2244G	possibly damaging	Het
Nsd3	T	G	8: 26,203,515 (GRCm39)	V1343G	probably damaging	Het
Nup155	T	C	15: 8,187,250 (GRCm39)		probably benign	Het
Obox6	T	C	7: 15,568,628 (GRCm39)	I83V	probably benign	Het
Or12k5	A	T	2: 36,895,321 (GRCm39)	F102I	probably damaging	Het
Or13a24	A	T	7: 140,154,413 (GRCm39)	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,331,241 (GRCm39)	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,736,303 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,268,365 (GRCm39)	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,089,683 (GRCm39)	T199A	probably benign	Het
Ptpra	A	G	2: 30,333,308 (GRCm39)	T3A	possibly damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Rptn	A	C	3: 93,304,436 (GRCm39)	S590R	probably benign	Het
Rreb1	A	G	13: 38,115,482 (GRCm39)	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575 (GRCm39)	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,744,719 (GRCm39)	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,329,015 (GRCm39)	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,252,519 (GRCm39)	L561I	probably damaging	Het
Spag5	A	G	11: 78,195,358 (GRCm39)	N222D	probably benign	Het
Spp2	G	A	1: 88,344,965 (GRCm39)	M54I	probably benign	Het
Sptbn4	T	C	7: 27,063,940 (GRCm39)	E847G	possibly damaging	Het
Timd2	T	A	11: 46,569,050 (GRCm39)	N203Y	probably damaging	Het
Togaram1	G	T	12: 65,030,195 (GRCm39)	D1000Y	probably damaging	Het
Usp47	C	T	7: 111,663,604 (GRCm39)	R258C	probably damaging	Het
Uts2r	A	C	11: 121,051,523 (GRCm39)	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,914,191 (GRCm39)	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,452,836 (GRCm39)	R518*	probably null	Het
Wdfy4	C	T	14: 32,871,523 (GRCm39)	R296K	probably benign	Het
Xirp2	A	T	2: 67,356,415 (GRCm39)	K3725N	probably benign	Het
Xntrpc	T	C	7: 101,727,036 (GRCm39)	S142P	probably benign	Het
Zfat	T	C	15: 68,052,678 (GRCm39)	H372R	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
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
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

Posted On

2014-05-07