Mutagenetix > Incidental Mutation

Incidental Mutation 'R3820:Cnot6'

274865

Institutional Source

Beutler Lab

Gene Symbol

Cnot6

Ensembl Gene

ENSMUSG00000020362

Gene Name

CCR4-NOT transcription complex, subunit 6

Synonyms

A230103N10Rik

MMRRC Submission

040882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R3820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49562330-49603550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49579999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 98 (S98T)

Ref Sequence

ENSEMBL: ENSMUSP00000121239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020624] [ENSMUST00000145353]

AlphaFold

Q8K3P5

Predicted Effect

probably benign
Transcript: ENSMUST00000020624
AA Change: S98T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: S98T

Domain	Start	End	E-Value	Type
LRR	50	72	1.41e0	SMART
LRR_TYP	73	95	2.71e-2	SMART
LRR_TYP	96	119	1.67e-2	SMART
Pfam:Exo_endo_phos	187	526	1.9e-23	PFAM
low complexity region	529	542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109183

Predicted Effect

probably benign
Transcript: ENSMUST00000145353
AA Change: S98T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: S98T

Domain	Start	End	E-Value	Type
LRR	50	72	1.41e0	SMART
LRR_TYP	73	95	2.71e-2	SMART
LRR_TYP	96	119	1.67e-2	SMART
Pfam:Exo_endo_phos	192	531	1.9e-23	PFAM
low complexity region	534	547	N/A	INTRINSIC

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	T	18: 6,630,166 (GRCm39)		probably null	Het
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Adam6a	T	C	12: 113,507,798 (GRCm39)	I57T	probably benign	Het
Adam6b	C	T	12: 113,453,984 (GRCm39)	T267I	probably benign	Het
Ap1g2	G	A	14: 55,338,030 (GRCm39)		probably benign	Het
Arhgap22	G	A	14: 33,089,378 (GRCm39)	E455K	probably benign	Het
Bltp1	G	A	3: 37,094,583 (GRCm39)	V917I	probably damaging	Het
Ccdc93	T	C	1: 121,389,969 (GRCm39)	I253T	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Edar	T	C	10: 58,457,185 (GRCm39)	Y131C	probably damaging	Het
Eif5	A	T	12: 111,506,618 (GRCm39)	R43*	probably null	Het
Eml4	C	A	17: 83,780,494 (GRCm39)	T667K	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,636,827 (GRCm39)		probably benign	Het
Frem2	T	A	3: 53,424,270 (GRCm39)	I3056F	probably damaging	Het
Hivep1	A	T	13: 42,337,787 (GRCm39)	H2622L	possibly damaging	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Kcnma1	T	C	14: 23,350,006 (GRCm39)	T1178A	possibly damaging	Het
Kcnt1	A	G	2: 25,790,904 (GRCm39)	H486R	probably damaging	Het
Kif21a	T	C	15: 90,852,277 (GRCm39)	N950S	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lrrc4b	T	A	7: 44,111,982 (GRCm39)	V618E	probably damaging	Het
Micall2	C	T	5: 139,701,611 (GRCm39)	G461D	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Pds5a	A	G	5: 65,811,419 (GRCm39)	V338A	possibly damaging	Het
Pds5b	T	C	5: 150,659,802 (GRCm39)	V255A	possibly damaging	Het
Prkar2a	T	G	9: 108,624,155 (GRCm39)	F391V	probably damaging	Het
Prr14l	A	G	5: 32,986,328 (GRCm39)	C1056R	probably damaging	Het
Ptpn23	A	G	9: 110,218,862 (GRCm39)		probably benign	Het
Serpinb5	T	A	1: 106,802,802 (GRCm39)	Y112*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdrd5	A	G	1: 156,113,053 (GRCm39)	V409A	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Trpm3	A	T	19: 22,964,813 (GRCm39)	N1436I	probably benign	Het
Unc13c	A	T	9: 73,838,240 (GRCm39)	S870R	probably benign	Het
Vmn2r16	C	T	5: 109,510,143 (GRCm39)	P509S	probably benign	Het
Vmn2r60	A	T	7: 41,785,125 (GRCm39)	E112D	probably damaging	Het
Xpnpep1	G	A	19: 52,992,250 (GRCm39)		probably benign	Het
Zfp729a	A	T	13: 67,769,438 (GRCm39)	C264S	probably damaging	Het
Zmynd8	T	A	2: 165,657,381 (GRCm39)	K521*	probably null	Het

Other mutations in Cnot6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Cnot6	APN	11	49,576,093 (GRCm39)	missense	probably benign	0.01
IGL00969:Cnot6	APN	11	49,575,947 (GRCm39)	missense	probably benign
IGL01655:Cnot6	APN	11	49,568,131 (GRCm39)	missense	probably damaging	1.00
IGL02074:Cnot6	APN	11	49,580,070 (GRCm39)	missense	probably benign	0.00
IGL02670:Cnot6	APN	11	49,575,941 (GRCm39)	nonsense	probably null
R0326:Cnot6	UTSW	11	49,568,263 (GRCm39)	missense	probably damaging	1.00
R0625:Cnot6	UTSW	11	49,573,998 (GRCm39)	missense	probably damaging	1.00
R1079:Cnot6	UTSW	11	49,575,930 (GRCm39)	missense	probably benign	0.01
R3821:Cnot6	UTSW	11	49,579,999 (GRCm39)	missense	probably benign	0.04
R3822:Cnot6	UTSW	11	49,579,999 (GRCm39)	missense	probably benign	0.04
R4202:Cnot6	UTSW	11	49,593,463 (GRCm39)	missense	probably damaging	1.00
R4515:Cnot6	UTSW	11	49,593,363 (GRCm39)	splice site	probably null
R6010:Cnot6	UTSW	11	49,574,066 (GRCm39)	nonsense	probably null
R6193:Cnot6	UTSW	11	49,570,850 (GRCm39)	missense	probably benign	0.06
R7149:Cnot6	UTSW	11	49,570,970 (GRCm39)	missense	probably benign
R7501:Cnot6	UTSW	11	49,576,159 (GRCm39)	missense	probably benign	0.01
R7556:Cnot6	UTSW	11	49,566,144 (GRCm39)	missense	probably benign	0.15
R8263:Cnot6	UTSW	11	49,573,002 (GRCm39)	missense	probably damaging	0.99
R8398:Cnot6	UTSW	11	49,593,445 (GRCm39)	missense	probably damaging	1.00
R8497:Cnot6	UTSW	11	49,566,191 (GRCm39)	missense	possibly damaging	0.46
R8519:Cnot6	UTSW	11	49,575,941 (GRCm39)	missense	probably benign
R9683:Cnot6	UTSW	11	49,580,164 (GRCm39)	missense	possibly damaging	0.93
RF003:Cnot6	UTSW	11	49,593,440 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCTCTGGACAGTCAATTCTTACC -3'
(R):5'- TGGCAGCCGCTCTATCTAAC -3'

Sequencing Primer
(F):5'- AAAGCCATGCCTCCTTTC -3'
(R):5'- TTTGTCTTGCAGGAAAAGTAAGAAGC -3'

Posted On

2015-04-02