Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Cnot4'

209340

Institutional Source

Beutler Lab

Gene Symbol

Cnot4

Ensembl Gene

ENSMUSG00000038784

Gene Name

CCR4-NOT transcription complex, subunit 4

Synonyms

Not4h, Not4hp, Not4

MMRRC Submission

039905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34999000-35110646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35055092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 66 (V66I)

Ref Sequence

ENSEMBL: ENSMUSP00000144352 (fasta)

Gene Model

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

AlphaFold

Q8BT14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044163
AA Change: V66I

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: V66I

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

possibly damaging
Transcript: ENSMUST00000114989
AA Change: V66I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: V66I

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: V66I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: V66I

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 damaging
Transcript: ENSMUST00000202143
AA Change: V66I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: V66I

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: V66I

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: V66I

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

0.1053

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Slc6a4	A	G	11: 76,904,201 (GRCm39)	T219A	probably benign	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het

Other mutations in Cnot4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Cnot4	APN	6	35,055,049 (GRCm39)	missense	probably damaging	1.00
IGL01341:Cnot4	APN	6	35,047,189 (GRCm39)	missense	probably damaging	1.00
IGL01346:Cnot4	APN	6	35,047,183 (GRCm39)	missense	probably damaging	1.00
IGL01775:Cnot4	APN	6	35,046,411 (GRCm39)	splice site	probably benign
IGL02035:Cnot4	APN	6	35,047,186 (GRCm39)	missense	probably damaging	1.00
IGL02167:Cnot4	APN	6	35,033,159 (GRCm39)	missense	possibly damaging	0.49
IGL02227:Cnot4	APN	6	35,028,198 (GRCm39)	missense	probably benign	0.44
IGL03136:Cnot4	APN	6	35,028,176 (GRCm39)	missense	probably damaging	0.99
IGL03230:Cnot4	APN	6	35,028,344 (GRCm39)	missense	probably damaging	1.00
IGL03297:Cnot4	APN	6	35,001,158 (GRCm39)	missense	probably benign
R0049:Cnot4	UTSW	6	35,028,212 (GRCm39)	missense	probably benign
R0049:Cnot4	UTSW	6	35,028,212 (GRCm39)	missense	probably benign
R0597:Cnot4	UTSW	6	35,028,438 (GRCm39)	missense	possibly damaging	0.66
R1518:Cnot4	UTSW	6	35,028,389 (GRCm39)	missense	probably damaging	0.98
R1883:Cnot4	UTSW	6	35,055,092 (GRCm39)	missense	probably damaging	0.99
R1992:Cnot4	UTSW	6	35,000,344 (GRCm39)	missense	probably benign
R3500:Cnot4	UTSW	6	35,057,076 (GRCm39)	start gained	probably benign
R4738:Cnot4	UTSW	6	35,028,311 (GRCm39)	missense	probably benign	0.28
R5029:Cnot4	UTSW	6	35,054,962 (GRCm39)	missense	probably damaging	1.00
R5247:Cnot4	UTSW	6	35,028,351 (GRCm39)	missense	probably damaging	0.96
R5534:Cnot4	UTSW	6	35,054,939 (GRCm39)	missense	possibly damaging	0.55
R5602:Cnot4	UTSW	6	35,028,464 (GRCm39)	nonsense	probably null
R6236:Cnot4	UTSW	6	35,045,608 (GRCm39)	missense	probably benign	0.33
R6701:Cnot4	UTSW	6	35,045,539 (GRCm39)	missense	probably damaging	1.00
R7252:Cnot4	UTSW	6	35,046,362 (GRCm39)	missense	probably damaging	1.00
R7360:Cnot4	UTSW	6	35,041,941 (GRCm39)	missense	probably damaging	1.00
R7479:Cnot4	UTSW	6	35,001,083 (GRCm39)	missense	probably benign	0.00
R7574:Cnot4	UTSW	6	35,029,939 (GRCm39)	missense	possibly damaging	0.82
R8063:Cnot4	UTSW	6	35,045,578 (GRCm39)	missense	probably damaging	0.98
R8137:Cnot4	UTSW	6	35,023,222 (GRCm39)	missense	unknown
R8312:Cnot4	UTSW	6	35,000,076 (GRCm39)	missense	probably damaging	0.99
R8407:Cnot4	UTSW	6	35,033,154 (GRCm39)	missense	probably benign	0.24
R9380:Cnot4	UTSW	6	35,029,865 (GRCm39)	missense	possibly damaging	0.77
R9508:Cnot4	UTSW	6	35,045,554 (GRCm39)	missense
R9773:Cnot4	UTSW	6	35,056,920 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTTCTGGGTCTGCTAGGC -3'
(R):5'- ACCAAGACTGAGTAGTTGGTTTTG -3'

Sequencing Primer
(F):5'- TAGGCGCTGTGACAGACCTAC -3'
(R):5'- GCTGAGACATGTGTGTGAAATG -3'

Posted On

2014-06-30