Mutagenetix > Incidental Mutation

Incidental Mutation 'R8172:Cnot3'

634192

Institutional Source

Beutler Lab

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

MMRRC Submission

067598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3648267-3664108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3661724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 672 (I672N)

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

possibly damaging
Transcript: ENSMUST00000038913
AA Change: I672N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: I672N

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: 99.3%
20x: 97.6%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	A	16: 34,977,427 (GRCm39)	L320Q	probably damaging	Het
Adgre4	A	T	17: 56,104,769 (GRCm39)	L278F	probably benign	Het
Agfg2	C	A	5: 137,665,431 (GRCm39)	R108L	probably damaging	Het
Arap2	A	T	5: 62,779,324 (GRCm39)		probably null	Het
Ascl2	G	T	7: 142,522,336 (GRCm39)	N37K	possibly damaging	Het
Baiap3	C	A	17: 25,463,096 (GRCm39)	D1043Y	probably damaging	Het
Cby2	T	A	14: 75,829,241 (GRCm39)		probably null	Het
Ccdc18	T	C	5: 108,311,640 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,646,433 (GRCm39)	D205V	probably damaging	Het
Cenpn	G	A	8: 117,658,333 (GRCm39)	G93D	probably benign	Het
Clpsl2	T	A	17: 28,768,556 (GRCm39)	S23R	possibly damaging	Het
Crygs	A	G	16: 22,625,292 (GRCm39)	Y50H	probably damaging	Het
Cyp4x1	T	C	4: 114,968,874 (GRCm39)	T403A	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Fam184b	C	T	5: 45,741,709 (GRCm39)	G174D	possibly damaging	Het
Fat2	T	A	11: 55,178,638 (GRCm39)	D1474V	probably damaging	Het
Flg2	T	A	3: 93,108,468 (GRCm39)	D165E	possibly damaging	Het
Fpr-rs7	A	T	17: 20,334,443 (GRCm39)	F16I	probably benign	Het
Gpr176	G	A	2: 118,114,615 (GRCm39)	T65I	probably damaging	Het
H2-Q10	C	T	17: 35,781,996 (GRCm39)	T206I	probably null	Het
Hadha	C	G	5: 30,350,285 (GRCm39)	A88P	probably damaging	Het
Hlcs	A	T	16: 94,068,485 (GRCm39)	L245Q	probably damaging	Het
Hnrnph1	T	C	11: 50,270,732 (GRCm39)	V113A	probably damaging	Het
Hsd3b7	G	A	7: 127,401,546 (GRCm39)	V224M	probably damaging	Het
Igha	T	C	12: 113,223,592 (GRCm39)	D88G		Het
Iqca1l	T	C	5: 24,748,608 (GRCm39)	M803V	probably benign	Het
Kdm7a	T	C	6: 39,125,965 (GRCm39)	K610R	probably benign	Het
Krt87	C	T	15: 101,383,284 (GRCm39)	C474Y	probably benign	Het
Lrrc74a	T	A	12: 86,788,530 (GRCm39)	L170H	probably damaging	Het
Lyg2	T	C	1: 37,946,748 (GRCm39)	T178A	probably benign	Het
Map2k2	T	A	10: 80,959,442 (GRCm39)		probably null	Het
Mast4	C	T	13: 103,089,633 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,216,529 (GRCm39)	D8E	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Oga	C	T	19: 45,765,339 (GRCm39)	R156H	probably damaging	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or4c105	A	T	2: 88,647,986 (GRCm39)	Q157L	probably damaging	Het
Poc1b	C	A	10: 98,980,338 (GRCm39)		probably null	Het
Proser1	T	A	3: 53,386,272 (GRCm39)	V718E	possibly damaging	Het
Ptgr2	T	A	12: 84,360,783 (GRCm39)	L351Q	possibly damaging	Het
Ptprf	A	G	4: 118,068,275 (GRCm39)	Y1754H	probably benign	Het
Scgb2b3	T	C	7: 31,058,476 (GRCm39)	K109R	possibly damaging	Het
Scn2a	A	T	2: 65,520,672 (GRCm39)	H556L	probably benign	Het
Scn7a	A	T	2: 66,506,191 (GRCm39)	M1566K	possibly damaging	Het
Slco5a1	A	T	1: 13,060,490 (GRCm39)	L77*	probably null	Het
Stk31	T	C	6: 49,394,261 (GRCm39)	F208L	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tbx4	A	G	11: 85,801,933 (GRCm39)	I189V	probably benign	Het
Tia1	T	A	6: 86,404,682 (GRCm39)	Y306N	probably benign	Het
Ttc21b	T	A	2: 66,082,500 (GRCm39)	Y33F	probably benign	Het
Usp47	T	A	7: 111,687,133 (GRCm39)	L677*	probably null	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
R8415:Cnot3	UTSW	7	3,661,687 (GRCm39)	missense	probably benign	0.01
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'- TGAACACTCTCCTGAAGGCAG -3'
(R):5'- GGAAACTGTACATGGCCTAGGG -3'

Sequencing Primer
(F):5'- CTGAAGGCAGGGCTGGAGC -3'
(R):5'- GCCTCTCCCTGAATCTTAGCAATTAG -3'

Posted On

2020-07-13