Mutagenetix > Incidental Mutation

Incidental Mutation 'R8312:Cnot4'

641444

Institutional Source

Beutler Lab

Gene Symbol

Cnot4

Ensembl Gene

ENSMUSG00000038784

Gene Name

CCR4-NOT transcription complex, subunit 4

Synonyms

Not4h, Not4hp, Not4

MMRRC Submission

067718-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34999000-35110646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35000076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 708 (D708V)

Ref Sequence

ENSEMBL: ENSMUSP00000110645 (fasta)

Gene Model

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

AlphaFold

Q8BT14

Predicted Effect

probably damaging
Transcript: ENSMUST00000114989
AA Change: D640V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: D640V

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: D708V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: D708V

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: D637V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: D637V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,662,190 (GRCm39)	R23G	probably damaging	Het
Abraxas2	A	G	7: 132,478,329 (GRCm39)	Y163C	probably damaging	Het
Acnat1	A	T	4: 49,449,142 (GRCm39)	L208*	probably null	Het
Agbl5	A	G	5: 31,051,850 (GRCm39)	E556G	probably damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Arih2	A	G	9: 108,521,473 (GRCm39)	S2P	probably damaging	Het
C87436	T	A	6: 86,434,813 (GRCm39)	L387Q	probably damaging	Het
Card9	A	T	2: 26,247,801 (GRCm39)	Y183*	probably null	Het
Cdk14	T	C	5: 4,944,141 (GRCm39)	D394G	probably benign	Het
Cep135	C	T	5: 76,784,746 (GRCm39)	S947L	probably damaging	Het
Cfb	T	C	17: 35,077,121 (GRCm39)	K505E	probably benign	Het
Col16a1	T	A	4: 129,948,244 (GRCm39)	L281M	unknown	Het
Col6a3	G	T	1: 90,741,412 (GRCm39)	D673E	possibly damaging	Het
Ctdnep1	G	A	11: 69,879,527 (GRCm39)	S150N	probably benign	Het
Fanca	T	A	8: 123,996,549 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,736,050 (GRCm39)	N548K	probably benign	Het
Gbp2b	A	G	3: 142,304,812 (GRCm39)	M83V	probably benign	Het
Gbp2b	C	A	3: 142,304,815 (GRCm39)	P84T	probably damaging	Het
Gli2	A	T	1: 118,795,842 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,511,587 (GRCm39)		probably benign	Het
Grn	A	C	11: 102,327,073 (GRCm39)	K557T	probably damaging	Het
Hapln1	C	T	13: 89,749,563 (GRCm39)	A36V	probably benign	Het
Heg1	C	T	16: 33,547,045 (GRCm39)	R635W	probably benign	Het
Hivep1	C	A	13: 42,308,653 (GRCm39)	Q298K	possibly damaging	Het
Hmcn1	A	G	1: 150,614,515 (GRCm39)	I1297T	probably damaging	Het
Hp1bp3	T	A	4: 137,950,750 (GRCm39)		probably benign	Het
Htr4	C	G	18: 62,570,549 (GRCm39)	F201L	probably damaging	Het
Insrr	C	G	3: 87,707,791 (GRCm39)	Q78E	possibly damaging	Het
Itga6	A	T	2: 71,686,297 (GRCm39)	M1072L	probably benign	Het
Kdsr	A	G	1: 106,675,216 (GRCm39)		probably null	Het
Klhl7	T	C	5: 24,339,965 (GRCm39)	I149T	probably damaging	Het
Lce1l	G	C	3: 92,757,766 (GRCm39)	P31A	unknown	Het
Mag	T	C	7: 30,610,894 (GRCm39)	Y116C	probably damaging	Het
Mast2	A	G	4: 116,287,683 (GRCm39)	S131P	probably benign	Het
Mlec	C	A	5: 115,288,266 (GRCm39)		probably null	Het
Mrap2	G	A	9: 87,051,712 (GRCm39)		probably null	Het
Myo5b	A	G	18: 74,867,033 (GRCm39)	K1395E	probably damaging	Het
Nipa2	G	A	7: 55,583,050 (GRCm39)	Q232*	probably null	Het
Nsd3	C	T	8: 26,153,268 (GRCm39)	T536M	probably damaging	Het
Oit3	T	C	10: 59,274,632 (GRCm39)	N56S	probably benign	Het
Or10p22	A	G	10: 128,826,347 (GRCm39)	T189A	probably benign	Het
Or13c7	A	T	4: 43,854,461 (GRCm39)	I51F	probably benign	Het
Or2m13	T	C	16: 19,225,987 (GRCm39)	M260V	probably benign	Het
Pax3	C	T	1: 78,172,006 (GRCm39)	R68Q	probably damaging	Het
Pcnx2	G	T	8: 126,489,589 (GRCm39)	H1668Q	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pkd1	A	G	17: 24,786,102 (GRCm39)	S463G	probably benign	Het
Plb1	C	T	5: 32,485,829 (GRCm39)	T871M	probably damaging	Het
Prdx1	A	G	4: 116,556,398 (GRCm39)	D182G	possibly damaging	Het
Prkch	T	A	12: 73,807,358 (GRCm39)	F593I	noncoding transcript	Het
Psrc1	C	T	3: 108,293,673 (GRCm39)	P194L	probably benign	Het
Ptp4a2	A	T	4: 129,733,427 (GRCm39)	I18L	probably benign	Het
Samd10	A	T	2: 181,238,668 (GRCm39)	L153H	probably damaging	Het
Shc3	T	G	13: 51,596,754 (GRCm39)	H423P	probably damaging	Het
Siae	A	T	9: 37,557,593 (GRCm39)	I467F		Het
Slc27a5	C	T	7: 12,725,214 (GRCm39)	R411Q	probably damaging	Het
Spata24	A	G	18: 35,793,861 (GRCm39)	I56T	probably benign	Het
Spns3	G	A	11: 72,390,534 (GRCm39)	T407M	probably damaging	Het
Spta1	G	A	1: 174,067,777 (GRCm39)	C2068Y	probably damaging	Het
Svs5	C	A	2: 164,080,091 (GRCm39)	G25W	probably damaging	Het
Thsd7a	T	C	6: 12,471,181 (GRCm39)	D479G		Het
Trhde	T	C	10: 114,249,192 (GRCm39)	Y858C	probably damaging	Het
Ttn	G	A	2: 76,781,992 (GRCm39)	R1057C	unknown	Het
Tulp4	G	T	17: 6,257,333 (GRCm39)		probably null	Het
Tyk2	T	C	9: 21,026,945 (GRCm39)	T613A	possibly damaging	Het
Ugt2b37	T	C	5: 87,390,799 (GRCm39)	K356R	probably benign	Het
Vmn1r39	A	G	6: 66,781,841 (GRCm39)	V159A	noncoding transcript	Het
Vps35	A	G	8: 86,001,498 (GRCm39)	V440A	possibly damaging	Het
Zmym6	A	G	4: 127,017,627 (GRCm39)	N1136S	probably 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
R1884: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
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'- AAGACGCTGTGATCGCATC -3'
(R):5'- CACTGGCTAAAATCCCTACAGG -3'

Sequencing Primer
(F):5'- AGACGCTGTGATCGCATCGTATC -3'
(R):5'- TACAGGCCCTCACAGAGATGG -3'

Posted On

2020-07-28