Mutagenetix > Incidental Mutations

Incidental Mutation 'R5534:Cnot4'

434701

Institutional Source

Beutler Lab

Gene Symbol

Cnot4

Ensembl Gene

ENSMUSG00000038784

Gene Name

CCR4-NOT transcription complex, subunit 4

Synonyms

Not4h, Not4, Not4hp

MMRRC Submission

043092-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35022065-35133724 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35078004 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 117 (S117P)

Ref Sequence

ENSEMBL: ENSMUSP00000110645 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044163
AA Change: S117P

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: S117P

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: S117P

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: S117P

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

possibly damaging
Transcript: ENSMUST00000114993
AA Change: S117P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: S117P

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
AA Change: S117P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: S117P

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
AA Change: S117P

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: S117P

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,228,835	F2188L	probably benign	Het
Adam18	T	A	8: 24,665,514	D163V	probably benign	Het
Ank2	A	T	3: 126,947,298		probably benign	Het
Ankmy1	T	C	1: 92,886,720	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,182,492	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,456,082	M712T	probably damaging	Het
Apcdd1	T	C	18: 62,937,034	I124T	probably benign	Het
Carmil3	A	G	14: 55,494,890	K256R	probably damaging	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Ccdc141	A	G	2: 77,057,897	V508A	probably benign	Het
Ccdc33	A	G	9: 58,117,167	S226P	possibly damaging	Het
Cep72	T	C	13: 74,062,216	E9G	probably benign	Het
Clca4b	A	T	3: 144,915,466	Y616N	probably damaging	Het
Col11a2	C	T	17: 34,051,024	A429V	probably damaging	Het
Col4a4	T	C	1: 82,487,517	E979G	unknown	Het
Coq10b	T	C	1: 55,064,200	Y46H	possibly damaging	Het
Dnah17	T	C	11: 118,052,770	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,803,076	R1824*	probably null	Het
Dsp	A	C	13: 38,195,842	I1589L	probably benign	Het
Edil3	A	G	13: 89,199,474	T383A	probably benign	Het
Efemp1	T	C	11: 28,867,758	V79A	probably damaging	Het
Esyt1	C	T	10: 128,519,460	V471I	probably benign	Het
Fbxo30	T	C	10: 11,289,665	S44P	possibly damaging	Het
Fdx1l	G	T	9: 21,073,266	D57E	probably benign	Het
Gbp11	A	T	5: 105,331,038	V178D	probably damaging	Het
Gm13084	G	T	4: 143,812,599	S108*	probably null	Het
Gna11	A	T	10: 81,531,133	I283N	probably damaging	Het
Grid2	A	T	6: 63,503,361	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,840,426	S266P	probably damaging	Het
Kdelc1	C	T	1: 44,112,677	V351M	probably damaging	Het
Kirrel	G	A	3: 87,090,518	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,837,357		probably benign	Het
Lama3	A	T	18: 12,553,210	T1171S	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Med13	A	T	11: 86,319,365	S650R	probably benign	Het
Meltf	T	A	16: 31,890,814		probably null	Het
Mgat1	T	C	11: 49,261,149	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452	D416V	probably damaging	Het
Myh3	A	T	11: 67,097,044	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,695,032	F398L	probably benign	Het
Olfr1009	T	C	2: 85,721,987	I194T	probably benign	Het
Olfr1295	T	C	2: 111,565,004	T147A	probably benign	Het
Olfr199	T	C	16: 59,216,040	D191G	probably benign	Het
Olfr237-ps1	A	G	6: 43,153,633	I109M	probably benign	Het
Otud3	A	G	4: 138,897,583	L269P	probably damaging	Het
Otx1	A	G	11: 21,996,296		probably benign	Het
Pcdhga7	A	C	18: 37,716,278	D446A	probably damaging	Het
Pcnx2	T	G	8: 125,838,015	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,648,583	G33W	probably damaging	Het
Pold1	A	G	7: 44,538,619	I585T	probably damaging	Het
Pole4	A	G	6: 82,652,134	Y84H	possibly damaging	Het
Ptpn23	A	G	9: 110,392,741	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rin3	T	C	12: 102,387,632	L766P	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rras2	G	A	7: 114,050,415	T138I	possibly damaging	Het
Scrn2	A	G	11: 97,030,925	I74V	probably benign	Het
Sema6d	T	C	2: 124,659,815	I526T	possibly damaging	Het
Shd	G	T	17: 55,971,577	E47*	probably null	Het
Slc22a27	T	C	19: 7,926,631	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,142,769	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,556,614	V429E	probably benign	Het
Smg8	A	T	11: 87,085,470	D428E	probably benign	Het
Snrpe	A	T	1: 133,606,473	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,227,506	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,294,899	Y70C	probably damaging	Het
Ush1c	A	G	7: 46,221,423	I330T	probably damaging	Het
Wnt11	T	C	7: 98,839,142	L12P	probably damaging	Het
Zan	A	G	5: 137,438,451	S2047P	unknown	Het
Zcchc6	A	G	13: 59,788,553	F843L	probably damaging	Het
Zfp763	A	C	17: 33,021,794	S20R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACAGGATCATTACCACGTC -3'
(R):5'- ATCCAGAAGATCCAGCAGTTTAC -3'

Sequencing Primer
(F):5'- AAGCCCTTAGTTTCACGAGG -3'
(R):5'- GTTTACAAACCACTTTCCCAGG -3'

Posted On

2016-10-24