Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02167:Cnot4'

282761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnot4

Ensembl Gene

ENSMUSG00000038784

Gene Name

CCR4-NOT transcription complex, subunit 4

Synonyms

Not4h, Not4, Not4hp

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

35022065-35133724 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35056224 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

Ref Sequence

ENSEMBL: ENSMUSP00000144409 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044163
AA Change: D289G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: D289G

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
AA Change: D289G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: D289G

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
AA Change: D286G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: D286G

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

noncoding transcript
Transcript: ENSMUST00000200743

Predicted Effect

probably benign
Transcript: ENSMUST00000202143
AA Change: D286G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: D286G

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

possibly damaging
Transcript: ENSMUST00000202417
AA Change: D286G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: D286G

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,722		probably benign	Het
Cacna1f	T	C	X: 7,616,019	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,934,300	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,531,333	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,284,359	L8*	probably null	Het
Cited2	T	C	10: 17,724,270	S109P	probably benign	Het
Col5a1	T	C	2: 28,018,556	I52T	probably benign	Het
Cry2	T	C	2: 92,433,821	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,122,826	F153S	probably damaging	Het
Ddr1	T	C	17: 35,690,071	S261G	possibly damaging	Het
Depdc5	G	A	5: 32,903,801	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,720,627		probably benign	Het
Epha8	A	T	4: 136,931,094	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,279,955	G383C	probably damaging	Het
Hydin	T	A	8: 110,418,423	I802N	possibly damaging	Het
Ifne	A	G	4: 88,879,828	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,533,515		probably benign	Het
Lig4	T	A	8: 9,971,821	N653I	probably benign	Het
Nagk	A	G	6: 83,801,106	D246G	probably damaging	Het
Nav1	A	G	1: 135,470,961	S628P	probably damaging	Het
Ncoa3	A	G	2: 166,070,136	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,844,785		probably benign	Het
Nynrin	G	T	14: 55,863,335	R194L	probably damaging	Het
Olfr1115	G	A	2: 87,252,198	C87Y	probably benign	Het
Olfr17	A	T	7: 107,097,661	R65S	probably benign	Het
Olfr45	T	A	7: 140,691,751	V282D	probably damaging	Het
Orc2	A	T	1: 58,483,639		probably benign	Het
Oxgr1	T	A	14: 120,021,930	R288S	probably damaging	Het
Prkcg	T	C	7: 3,322,581		probably null	Het
Prox1	T	C	1: 190,161,280	N323D	probably benign	Het
Prrt1	A	C	17: 34,631,855	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,268,696	D103G	probably damaging	Het
Sardh	G	T	2: 27,191,975	N846K	probably damaging	Het
Slc38a8	T	A	8: 119,487,360	T248S	probably benign	Het
Slc6a18	T	C	13: 73,666,472		probably null	Het
Smcp	T	C	3: 92,584,199	T114A	unknown	Het
Tmem8	T	C	17: 26,119,071	S450P	probably damaging	Het
Trpv1	A	G	11: 73,254,797	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,881,911	H243L	probably benign	Het
Wdfy3	T	C	5: 101,961,157	M125V	probably damaging	Het
Wnk2	T	C	13: 49,071,125		probably null	Het
Wrn	T	C	8: 33,317,555	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,461,829	L20P	possibly damaging	Het
Zfp608	T	C	18: 54,988,224	H97R	probably damaging	Het
Zfp68	T	A	5: 138,606,367	M565L	probably benign	Het
Zfp687	T	C	3: 95,010,530	T644A	probably benign	Het
Zfp777	C	T	6: 48,044,526	G54D	probably 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
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
R3500:Cnot4	UTSW	6	35080141	start gained	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

Posted On

2015-04-16