Mutagenetix > Incidental Mutations

Incidental Mutation 'R3500:Cnot4'

273755

Institutional Source

Beutler Lab

Gene Symbol

Cnot4

Ensembl Gene

ENSMUSG00000038784

Gene Name

CCR4-NOT transcription complex, subunit 4

Synonyms

Not4h, Not4, Not4hp

MMRRC Submission

040663-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35022065-35133724 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 35080141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]

AlphaFold

Q8BT14

Predicted Effect

probably benign
Transcript: ENSMUST00000044163

SMART Domains

Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784

Domain	Start	End	E-Value	Type
RING	14	56	4.14e-1	SMART
low complexity region	76	93	N/A	INTRINSIC
RRM	110	189	6.41e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114989

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784

Domain	Start	End	E-Value	Type
RING	14	56	4.14e-1	SMART
low complexity region	76	93	N/A	INTRINSIC
RRM	110	189	6.41e-2	SMART
low complexity region	537	549	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	602	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114993

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784

Domain	Start	End	E-Value	Type
RING	14	56	4.14e-1	SMART
low complexity region	76	93	N/A	INTRINSIC
RRM	110	189	6.41e-2	SMART
low complexity region	572	592	N/A	INTRINSIC
low complexity region	644	658	N/A	INTRINSIC
low complexity region	670	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202143

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784

Domain	Start	End	E-Value	Type
RING	14	56	4.14e-1	SMART
low complexity region	76	93	N/A	INTRINSIC
RRM	110	189	6.41e-2	SMART
low complexity region	534	546	N/A	INTRINSIC
low complexity region	573	587	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202417

SMART Domains

Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784

Domain	Start	End	E-Value	Type
RING	14	56	4.14e-1	SMART
low complexity region	76	93	N/A	INTRINSIC
RRM	110	189	6.41e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202666

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	T	4: 107,891,513	R83W	probably damaging	Het
Amhr2	A	G	15: 102,447,066	D188G	probably benign	Het
Arl15	G	A	13: 113,967,692	E102K	probably damaging	Het
Atp10d	C	T	5: 72,245,723	R319C	probably damaging	Het
Cetn4	A	T	3: 37,309,960	F34I	probably benign	Het
Chd8	G	T	14: 52,205,653	H510N	probably benign	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Clcn1	T	C	6: 42,292,995	S251P	probably damaging	Het
Clstn3	A	T	6: 124,431,711	C881S	probably benign	Het
Copg1	G	A	6: 87,895,923		probably benign	Het
Eftud2	A	G	11: 102,844,180	M631T	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Fancb	A	G	X: 164,996,108	T721A	probably damaging	Het
Fat2	A	G	11: 55,260,516	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,365,601	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184		probably benign	Het
Gata4	C	T	14: 63,200,533	G390S	possibly damaging	Het
Gm9396	C	A	3: 130,068,495		noncoding transcript	Het
Grid2	T	C	6: 63,503,399	S66P	probably damaging	Het
Hdac9	C	A	12: 34,437,353	M16I	probably benign	Het
Kmt2c	A	T	5: 25,299,479	D3610E	probably benign	Het
Lactb2	A	T	1: 13,660,449	M1K	probably null	Het
Ldhb	T	C	6: 142,501,447	D47G	probably damaging	Het
Map3k11	A	T	19: 5,690,247	M1L	probably benign	Het
Mecom	C	T	3: 29,980,912	R205H	probably damaging	Het
Mob1b	A	G	5: 88,749,620	D129G	probably benign	Het
Nbea	A	G	3: 55,681,010	V2436A	possibly damaging	Het
Neb	T	C	2: 52,325,785	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,212,860	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,707,940	R282*	probably null	Het
Olfr1189	A	G	2: 88,591,941	T46A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,157,059	G39R	probably damaging	Het
Olfr1317	T	C	2: 112,142,127	F61L	possibly damaging	Het
Olfr1426	A	G	19: 12,088,057	V245A	possibly damaging	Het
Olfr589	T	C	7: 103,155,090	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,497,479	L109*	probably null	Het
Plcg2	A	G	8: 117,612,978	M1043V	probably benign	Het
Podxl2	T	C	6: 88,842,918	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,881,512	T252A	probably benign	Het
Pramel6	A	G	2: 87,509,225	H111R	probably damaging	Het
Prr19	A	G	7: 25,303,267	E130G	probably damaging	Het
Rab44	C	T	17: 29,138,067	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,319,705	F95L	probably damaging	Het
Sdk1	G	T	5: 142,006,616		probably benign	Het
Tas2r122	T	A	6: 132,711,560	K123N	probably damaging	Het
Tbpl2	C	T	2: 24,087,139	R289Q	probably benign	Het
Trpm2	A	G	10: 77,932,302	F788L	probably benign	Het
Ttn	G	A	2: 76,730,284	L29258F	probably damaging	Het
Ttn	G	T	2: 76,761,165	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,713,170	I335T	possibly damaging	Het

Other mutations in Cnot4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Cnot4	APN	6	35078114	missense	probably damaging	1.00
IGL01341:Cnot4	APN	6	35070254	missense	probably damaging	1.00
IGL01346:Cnot4	APN	6	35070248	missense	probably damaging	1.00
IGL01775:Cnot4	APN	6	35069476	splice site	probably benign
IGL02035:Cnot4	APN	6	35070251	missense	probably damaging	1.00
IGL02167:Cnot4	APN	6	35056224	missense	possibly damaging	0.49
IGL02227:Cnot4	APN	6	35051263	missense	probably benign	0.44
IGL03136:Cnot4	APN	6	35051241	missense	probably damaging	0.99
IGL03230:Cnot4	APN	6	35051409	missense	probably damaging	1.00
IGL03297:Cnot4	APN	6	35024223	missense	probably benign
R0049:Cnot4	UTSW	6	35051277	missense	probably benign
R0049:Cnot4	UTSW	6	35051277	missense	probably benign
R0597:Cnot4	UTSW	6	35051503	missense	possibly damaging	0.66
R1518:Cnot4	UTSW	6	35051454	missense	probably damaging	0.98
R1883:Cnot4	UTSW	6	35078157	missense	probably damaging	0.99
R1884:Cnot4	UTSW	6	35078157	missense	probably damaging	0.99
R1992:Cnot4	UTSW	6	35023409	missense	probably benign
R4738:Cnot4	UTSW	6	35051376	missense	probably benign	0.28
R5029:Cnot4	UTSW	6	35078027	missense	probably damaging	1.00
R5247:Cnot4	UTSW	6	35051416	missense	probably damaging	0.96
R5534:Cnot4	UTSW	6	35078004	missense	possibly damaging	0.55
R5602:Cnot4	UTSW	6	35051529	nonsense	probably null
R6236:Cnot4	UTSW	6	35068673	missense	probably benign	0.33
R6701:Cnot4	UTSW	6	35068604	missense	probably damaging	1.00
R7252:Cnot4	UTSW	6	35069427	missense	probably damaging	1.00
R7360:Cnot4	UTSW	6	35065006	missense	probably damaging	1.00
R7479:Cnot4	UTSW	6	35024148	missense	probably benign	0.00
R7574:Cnot4	UTSW	6	35053004	missense	possibly damaging	0.82
R8063:Cnot4	UTSW	6	35068643	missense	probably damaging	0.98
R8137:Cnot4	UTSW	6	35046287	missense	unknown
R8312:Cnot4	UTSW	6	35023141	missense	probably damaging	0.99
R8407:Cnot4	UTSW	6	35056219	missense	probably benign	0.24
R9380:Cnot4	UTSW	6	35052930	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GCAGGACAAAGCCCATTCTC -3'
(R):5'- AACTGAGAACCCTTTACATCTCTCTTG -3'

Sequencing Primer
(F):5'- CATCAGTGCGAATTCGATGC -3'
(R):5'- TGCATCTGAAACTTAATAATGCCAG -3'

Posted On

2015-04-02