Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Cnot3'

441317

Institutional Source

Beutler Lab

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3645268-3661109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3658083 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 561 (L561S)

Ref Sequence

ENSEMBL: ENSMUSP00000039098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019878] [ENSMUST00000038913] [ENSMUST00000160200]

Predicted Effect

probably benign
Transcript: ENSMUST00000019878

SMART Domains

Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813

Domain	Start	End	E-Value	Type
Cir_N	8	44	2.43e-9	SMART
low complexity region	94	109	N/A	INTRINSIC
low complexity region	171	192	N/A	INTRINSIC
coiled coil region	198	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038913
AA Change: L561S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: L561S

Domain	Start	End	E-Value	Type
Pfam:Not3	3	232	6.5e-99	PFAM
low complexity region	257	274	N/A	INTRINSIC
low complexity region	316	338	N/A	INTRINSIC
low complexity region	384	426	N/A	INTRINSIC
low complexity region	441	450	N/A	INTRINSIC
low complexity region	473	509	N/A	INTRINSIC
low complexity region	570	587	N/A	INTRINSIC
Pfam:NOT2_3_5	618	745	3.7e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129973

Predicted Effect

probably benign
Transcript: ENSMUST00000132344

SMART Domains

Protein: ENSMUSP00000117297
Gene: ENSMUSG00000035632

Domain	Start	End	E-Value	Type
Pfam:Not3	1	189	8.9e-77	PFAM
low complexity region	214	231	N/A	INTRINSIC
SCOP:d1cpo_2	260	335	7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135977

SMART Domains

Protein: ENSMUSP00000118822
Gene: ENSMUSG00000035632

Domain	Start	End	E-Value	Type
Pfam:Not3	1	78	1.1e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143085

Predicted Effect

probably benign
Transcript: ENSMUST00000160200

SMART Domains

Protein: ENSMUSP00000124810
Gene: ENSMUSG00000035632

Domain	Start	End	E-Value	Type
Pfam:NOT2_3_5	1	83	3.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175549

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show defective outgrowth of the inner cell mass and complete embryonic lethality at implantation. Heterozygotes exhibit decreased cardiac muscle contractility and develop severe cardiomyopathy leading to heart failure in response to pressure overload. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Cnot3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cnot3	APN	7	3650855	missense	probably damaging	1.00
IGL02231:Cnot3	APN	7	3658210	missense	probably benign	0.00
IGL02476:Cnot3	APN	7	3658068	missense	probably benign	0.01
IGL03102:Cnot3	APN	7	3656156	nonsense	probably null
IGL03181:Cnot3	APN	7	3653248	missense	probably damaging	1.00
secondary	UTSW	7	3651919	missense	probably damaging	1.00
R4531:Cnot3	UTSW	7	3658074	missense	probably benign
R4564:Cnot3	UTSW	7	3653258	missense	probably damaging	1.00
R5071:Cnot3	UTSW	7	3650861	missense	probably damaging	1.00
R5869:Cnot3	UTSW	7	3644930	unclassified	probably benign
R6120:Cnot3	UTSW	7	3645336	splice site	probably null
R6759:Cnot3	UTSW	7	3651919	missense	probably damaging	1.00
R7305:Cnot3	UTSW	7	3645480	start gained	probably benign
R7369:Cnot3	UTSW	7	3653331	missense	possibly damaging	0.77
R7860:Cnot3	UTSW	7	3655566	splice site	probably null
R7957:Cnot3	UTSW	7	3658222	missense	probably benign
R8172:Cnot3	UTSW	7	3658725	missense	possibly damaging	0.64
R8415:Cnot3	UTSW	7	3658688	missense	probably benign	0.01
RF010:Cnot3	UTSW	7	3656069	missense	probably benign	0.01
Z1177:Cnot3	UTSW	7	3651495	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCAGAGTGTACAGAGCCTATC -3'
(R):5'- TGTTCACCTCTGACAGCTGC -3'

Sequencing Primer
(F):5'- AATTGAACTCGGGACCTCTG -3'
(R):5'- TCTGACAGCTGCAGGGGTG -3'

Posted On

2016-11-08