Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Cnot3'

285705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

3645268-3661109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3658210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 573 (T573A)

Ref Sequence

ENSEMBL: ENSMUSP00000039098 (fasta)

Gene Model

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

AlphaFold

Q8K0V4

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: T573A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: T573A

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Cnot3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cnot3	APN	7	3650855	missense	probably damaging	1.00
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
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
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

Posted On

2015-04-16