Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Cnot6'

581488

Institutional Source

Beutler Lab

Gene Symbol

Cnot6

Ensembl Gene

ENSMUSG00000020362

Gene Name

CCR4-NOT transcription complex, subunit 6

Synonyms

A230103N10Rik

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49562330-49603550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49576159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 136 (I136V)

Ref Sequence

ENSEMBL: ENSMUSP00000020624 (fasta)

Gene Model

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

AlphaFold

Q8K3P5

Predicted Effect

probably benign
Transcript: ENSMUST00000020624
AA Change: I136V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: I136V

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

probably benign
Transcript: ENSMUST00000145353
AA Change: I136V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: I136V

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

0.0686

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	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
R3820:Cnot6	UTSW	11	49,579,999 (GRCm39)	missense	probably benign	0.04
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
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'- CAAGATCTTGGAGGTGGTTGTTC -3'
(R):5'- TTATGAACTTTTGTGTACAGTGCAAA -3'

Sequencing Primer
(F):5'- TGTTCTGTTGAAACTGGGTATATATG -3'
(R):5'- GGATTTGAACTCTGGACCTTCACAAG -3'

Posted On

2019-10-17