Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Cnot4'

410539

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 #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

35022065-35133724 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35051241 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 480 (R480L)

Ref Sequence

ENSEMBL: ENSMUSP00000144409 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044163
AA Change: R483L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: R483L

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 damaging
Transcript: ENSMUST00000114989
AA Change: R483L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: R483L

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 damaging
Transcript: ENSMUST00000114993
AA Change: R480L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: R480L

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 damaging
Transcript: ENSMUST00000202143
AA Change: R480L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: R480L

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 damaging
Transcript: ENSMUST00000202417
AA Change: R480L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: R480L

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	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
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

2016-08-02