Mutagenetix > Incidental Mutation

Incidental Mutation 'R6120:Cnot3'

485709

Institutional Source

Beutler Lab

Gene Symbol

Cnot3

Ensembl Gene

ENSMUSG00000035632

Gene Name

CCR4-NOT transcription complex, subunit 3

Synonyms

A930039N10Rik

MMRRC Submission

044268-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3648267-3664108 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 3648335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039098 (fasta)

Gene Model

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

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 null
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

noncoding transcript
Transcript: ENSMUST00000206331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206440

Predicted Effect

probably benign
Transcript: ENSMUST00000206287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206075

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.6%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,638,795 (GRCm39)	V398E	possibly damaging	Het
Ankef1	A	G	2: 136,392,296 (GRCm39)	N495S	probably benign	Het
Bpifb3	G	T	2: 153,773,363 (GRCm39)	V428L	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,230,785 (GRCm39)	L362S	probably benign	Het
Ccdc33	G	A	9: 57,993,883 (GRCm39)	P88S	probably damaging	Het
Cdk14	A	T	5: 4,944,029 (GRCm39)	D385E	probably damaging	Het
Chrna4	A	G	2: 180,666,599 (GRCm39)	L613P	probably damaging	Het
Csf1	T	A	3: 107,661,170 (GRCm39)	I116L	probably damaging	Het
Csrp2	G	T	10: 110,775,140 (GRCm39)	A192S	probably benign	Het
Dnah9	T	C	11: 66,038,225 (GRCm39)	T104A	probably benign	Het
Eml1	C	T	12: 108,493,983 (GRCm39)	P593S	probably damaging	Het
Entpd2	T	A	2: 25,289,478 (GRCm39)	I320N	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Fgfr2	G	T	7: 129,830,420 (GRCm39)	T186K	probably benign	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Gbf1	A	G	19: 46,267,760 (GRCm39)	I1203V	possibly damaging	Het
Gja1	T	A	10: 56,264,601 (GRCm39)	M320K	probably benign	Het
Gm5431	A	G	11: 48,785,608 (GRCm39)	Y256H	probably benign	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Greb1	T	G	12: 16,758,622 (GRCm39)	D698A	probably damaging	Het
Hook2	A	G	8: 85,724,754 (GRCm39)	E500G	probably damaging	Het
Kif13b	A	T	14: 64,989,007 (GRCm39)	N796I	probably damaging	Het
Kif1a	C	T	1: 92,952,296 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,087,612 (GRCm39)		probably null	Het
Mfsd1	C	T	3: 67,501,718 (GRCm39)	Q246*	probably null	Het
Mkrn3	A	G	7: 62,069,282 (GRCm39)	S170P	probably benign	Het
Ms4a6b	A	G	19: 11,499,059 (GRCm39)	M58V	probably benign	Het
Muc4	T	C	16: 32,577,169 (GRCm39)	V2223A	unknown	Het
Mycbp2	A	T	14: 103,513,323 (GRCm39)	V811D	probably benign	Het
Or5p59	A	T	7: 107,703,340 (GRCm39)	N275Y	probably damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or9g4b	T	C	2: 85,616,685 (GRCm39)	F277L	probably damaging	Het
Pcsk2	A	G	2: 143,643,031 (GRCm39)	E436G	probably damaging	Het
Pet100	T	G	8: 3,671,764 (GRCm39)		probably null	Het
Pira2	A	G	7: 3,844,553 (GRCm39)	Y493H	probably damaging	Het
Prkdc	C	A	16: 15,557,335 (GRCm39)	R2213S	probably benign	Het
Prmt2	A	G	10: 76,045,280 (GRCm39)	I342T	possibly damaging	Het
Psmc6	A	G	14: 45,586,130 (GRCm39)	E381G	possibly damaging	Het
Rrm1	G	A	7: 102,110,063 (GRCm39)		probably null	Het
Sema3c	A	G	5: 17,932,630 (GRCm39)	D711G	probably benign	Het
Sgcb	T	C	5: 73,798,153 (GRCm39)	E103G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,848 (GRCm39)	S957P	probably damaging	Het
Slc26a2	A	G	18: 61,332,489 (GRCm39)	V314A	possibly damaging	Het
Smarca5	G	T	8: 81,438,372 (GRCm39)	H655N	probably damaging	Het
Sspo	T	A	6: 48,442,510 (GRCm39)	S2002T	probably damaging	Het
Sync	T	C	4: 129,187,544 (GRCm39)	L192P	probably damaging	Het
Ush2a	T	C	1: 188,090,800 (GRCm39)	M477T	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vcam1	A	G	3: 115,918,049 (GRCm39)	V304A	probably damaging	Het
Vmn2r115	T	A	17: 23,565,003 (GRCm39)	W297R	probably damaging	Het
Vmn2r120	T	A	17: 57,832,973 (GRCm39)	M69L	probably benign	Het
Wdr11	A	G	7: 129,226,515 (GRCm39)	D771G	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
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
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'- TCTCGCTAGGAACCAATGGGG -3'
(R):5'- AGTCGAACCTGACGCTCAC -3'

Sequencing Primer
(F):5'- AATGGGGCGCGCCTAAC -3'
(R):5'- TATCGCGATAAGAGGGC -3'

Posted On

2017-08-16