Mutagenetix > Incidental Mutation

Incidental Mutation 'R8415:Cnot3'

652886

Institutional Source

Beutler Lab

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

MMRRC Submission

067769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3648267-3664108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3661687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 660 (F660L)

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: F660L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: F660L

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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,947 (GRCm39)	H317R	unknown	Het
Aox1	A	T	1: 58,080,638 (GRCm39)	Y29F	probably damaging	Het
Bnip2	T	C	9: 69,910,967 (GRCm39)	F304S	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Ccdc18	T	A	5: 108,363,899 (GRCm39)	V1198E	probably damaging	Het
Cntnap3	A	G	13: 64,886,479 (GRCm39)	I1249T	probably benign	Het
Ctnna3	A	G	10: 63,339,909 (GRCm39)	I32V	probably benign	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,564 (GRCm39)	N182S	probably benign	Het
Dpagt1	C	A	9: 44,238,482 (GRCm39)	N49K	possibly damaging	Het
Dsg3	A	T	18: 20,656,765 (GRCm39)	S212C	probably damaging	Het
Epb41l1	C	T	2: 156,368,873 (GRCm39)	A714V	probably benign	Het
Eppk1	A	G	15: 75,995,831 (GRCm39)	V350A	probably benign	Het
Frem1	T	G	4: 82,918,499 (GRCm39)	D481A	probably damaging	Het
Git2	T	C	5: 114,871,989 (GRCm39)	K532E	possibly damaging	Het
Glyr1	T	C	16: 4,854,329 (GRCm39)	H102R	probably benign	Het
Hdgfl2	C	T	17: 56,400,712 (GRCm39)	P160L	probably benign	Het
Hivep1	T	C	13: 42,308,905 (GRCm39)	S382P	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hydin	G	A	8: 111,178,626 (GRCm39)	G1074R	probably damaging	Het
Ift140	A	G	17: 25,311,889 (GRCm39)	I1271V	probably damaging	Het
Krt28	T	A	11: 99,265,626 (GRCm39)	I14L	probably benign	Het
Lrtm2	A	T	6: 119,294,458 (GRCm39)	D224E	probably damaging	Het
Map1s	G	A	8: 71,365,910 (GRCm39)	V272M	probably damaging	Het
Mast3	A	G	8: 71,233,866 (GRCm39)	Y960H	probably damaging	Het
Mettl25	G	T	10: 105,662,002 (GRCm39)	Q323K	probably benign	Het
Mlh3	A	T	12: 85,315,854 (GRCm39)	S111T	probably benign	Het
Muc17	A	G	5: 137,172,798 (GRCm39)	L85P		Het
Myh6	C	G	14: 55,181,835 (GRCm39)	R1822P	probably damaging	Het
Myof	C	T	19: 37,983,872 (GRCm39)	G144E	probably benign	Het
Nat8f2	A	G	6: 85,845,024 (GRCm39)	S113P	probably damaging	Het
Nlrp9a	A	T	7: 26,256,925 (GRCm39)	Y181F	probably benign	Het
Nup85	A	G	11: 115,457,468 (GRCm39)	I57V	probably benign	Het
Or4c99	T	A	2: 88,329,710 (GRCm39)	C94S	probably damaging	Het
Or5p79	C	T	7: 108,221,163 (GRCm39)	T48I	probably damaging	Het
Or7e170	T	A	9: 19,795,409 (GRCm39)	Y64F	possibly damaging	Het
Pcdhb2	A	G	18: 37,429,110 (GRCm39)	N361S	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Phf20	C	T	2: 156,129,913 (GRCm39)	T495M	probably benign	Het
Pitpnm1	T	C	19: 4,155,454 (GRCm39)	M368T	probably benign	Het
Pter	A	G	2: 13,005,700 (GRCm39)	D291G	probably damaging	Het
Rasgrp2	T	G	19: 6,454,781 (GRCm39)	V207G	probably damaging	Het
Rnd2	A	T	11: 101,362,011 (GRCm39)	Q188L	probably benign	Het
Sh3d19	T	A	3: 85,992,363 (GRCm39)	D130E	probably benign	Het
Slc7a2	A	T	8: 41,369,396 (GRCm39)	Y617F	probably damaging	Het
Snx29	T	C	16: 11,265,291 (GRCm39)	L165P	probably damaging	Het
St7	T	C	6: 17,848,080 (GRCm39)		probably null	Het
Tas2r115	A	G	6: 132,714,798 (GRCm39)	L51P	probably damaging	Het
Tead1	C	A	7: 112,456,135 (GRCm39)	P164Q	probably benign	Het
Thop1	A	G	10: 80,914,385 (GRCm39)	Y224C	probably damaging	Het
Twf1	T	C	15: 94,477,702 (GRCm39)	*351W	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Utp20	A	G	10: 88,662,466 (GRCm39)		probably null	Het
Vmn2r118	G	T	17: 55,915,057 (GRCm39)	L530I	probably benign	Het
Vmn2r30	A	T	7: 7,315,359 (GRCm39)	C825S	probably damaging	Het
Vps13d	A	T	4: 144,818,549 (GRCm39)	M3106K		Het
Wfdc15a	A	T	2: 164,041,671 (GRCm39)	C51S	probably damaging	Het
Zc3hc1	T	C	6: 30,375,951 (GRCm39)	D203G	probably damaging	Het
Zfhx2	G	T	14: 55,308,079 (GRCm39)	D932E	probably benign	Het
Zfp267	G	A	3: 36,219,182 (GRCm39)	G402S	probably damaging	Het

Other mutations in Cnot3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cnot3	APN	7	3,653,854 (GRCm39)	missense	probably damaging	1.00
IGL02231:Cnot3	APN	7	3,661,209 (GRCm39)	missense	probably benign	0.00
IGL02476:Cnot3	APN	7	3,661,067 (GRCm39)	missense	probably benign	0.01
IGL03102:Cnot3	APN	7	3,659,155 (GRCm39)	nonsense	probably null
IGL03181:Cnot3	APN	7	3,656,247 (GRCm39)	missense	probably damaging	1.00
secondary	UTSW	7	3,654,918 (GRCm39)	missense	probably damaging	1.00
R4531:Cnot3	UTSW	7	3,661,073 (GRCm39)	missense	probably benign
R4564:Cnot3	UTSW	7	3,656,257 (GRCm39)	missense	probably damaging	1.00
R5071:Cnot3	UTSW	7	3,653,860 (GRCm39)	missense	probably damaging	1.00
R5649:Cnot3	UTSW	7	3,661,082 (GRCm39)	missense	probably benign	0.08
R5869:Cnot3	UTSW	7	3,647,929 (GRCm39)	unclassified	probably benign
R6120:Cnot3	UTSW	7	3,648,335 (GRCm39)	splice site	probably null
R6759:Cnot3	UTSW	7	3,654,918 (GRCm39)	missense	probably damaging	1.00
R7305:Cnot3	UTSW	7	3,648,479 (GRCm39)	start gained	probably benign
R7369:Cnot3	UTSW	7	3,656,330 (GRCm39)	missense	possibly damaging	0.77
R7860:Cnot3	UTSW	7	3,658,565 (GRCm39)	splice site	probably null
R7957:Cnot3	UTSW	7	3,661,221 (GRCm39)	missense	probably benign
R8172:Cnot3	UTSW	7	3,661,724 (GRCm39)	missense	possibly damaging	0.64
R8693:Cnot3	UTSW	7	3,656,522 (GRCm39)	missense	probably benign	0.16
R8983:Cnot3	UTSW	7	3,654,328 (GRCm39)	missense	probably damaging	1.00
R9100:Cnot3	UTSW	7	3,661,192 (GRCm39)	missense	probably benign	0.01
R9388:Cnot3	UTSW	7	3,661,367 (GRCm39)	missense	possibly damaging	0.93
R9440:Cnot3	UTSW	7	3,656,560 (GRCm39)	missense	probably damaging	1.00
RF010:Cnot3	UTSW	7	3,659,068 (GRCm39)	missense	probably benign	0.01
Z1177:Cnot3	UTSW	7	3,654,494 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTTGGGGCTCCCTAAAG -3'
(R):5'- GCAGCCTCTCCCTGAATCTTAG -3'

Sequencing Primer
(F):5'- CTCCCTAAAGCAGGTTGAAGTGTG -3'
(R):5'- TTTAATTTGAGGGGGCCCAAGAC -3'

Posted On

2020-10-20