Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Cnot3'

501956

Institutional Source

Beutler Lab

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

MMRRC Submission

044077-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5869 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

3645268-3661109 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 3644930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000038913] [ENSMUST00000108636] [ENSMUST00000179769] [ENSMUST00000206287]

AlphaFold

Q8K0V4

Predicted Effect

probably benign
Transcript: ENSMUST00000008517

SMART Domains

Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
low complexity region	287	298	N/A	INTRINSIC
Pfam:Prp31_C	337	465	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038913

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632

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

probably benign
Transcript: ENSMUST00000108636

SMART Domains

Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148641

Predicted Effect

probably benign
Transcript: ENSMUST00000179769

SMART Domains

Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373

Domain	Start	End	E-Value	Type
low complexity region	4	38	N/A	INTRINSIC
NOSIC	92	144	2.58e-22	SMART
Pfam:Nop	186	328	4.9e-46	PFAM
Pfam:Prp31_C	330	459	4.1e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206075

Predicted Effect

probably benign
Transcript: ENSMUST00000206287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206440

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	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
R5649:Cnot3	UTSW	7	3658083	missense	probably benign	0.08
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
R8693:Cnot3	UTSW	7	3653523	missense	probably benign	0.16
R8983:Cnot3	UTSW	7	3651329	missense	probably damaging	1.00
R9100:Cnot3	UTSW	7	3658193	missense	probably benign	0.01
R9388:Cnot3	UTSW	7	3658368	missense	possibly damaging	0.93
R9440:Cnot3	UTSW	7	3653561	missense	probably damaging	1.00
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'- CTCCGTCTCCCACTAGATAAGC -3'
(R):5'- AGGCCAACCTCTTCATTATGATTG -3'

Sequencing Primer
(F):5'- GATAAGCTTCCTTTAACACTCACACG -3'
(R):5'- AACCTCTTCATTATGATTGGCTGATC -3'

Posted On

2018-01-31