Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Cnot8'

249088

Institutional Source

Beutler Lab

Gene Symbol

Cnot8

Ensembl Gene

ENSMUSG00000020515

Gene Name

CCR4-NOT transcription complex, subunit 8

Synonyms

1500015I04Rik, 1810022F04Rik

MMRRC Submission

040380-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R2418 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57994979-58009420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58006136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 222 (G222R)

Ref Sequence

ENSEMBL: ENSMUSP00000104471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020822] [ENSMUST00000108843] [ENSMUST00000134896] [ENSMUST00000172035]

AlphaFold

Q9D8X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020822
AA Change: G222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: G222R

Domain	Start	End	E-Value	Type
Pfam:CAF1	15	139	4.3e-15	PFAM
Pfam:CAF1	138	238	1.4e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108843
AA Change: G222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: G222R

Domain	Start	End	E-Value	Type
Pfam:CAF1	13	240	1.3e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133923

Predicted Effect

probably benign
Transcript: ENSMUST00000134896

SMART Domains

Protein: ENSMUSP00000116116
Gene: ENSMUSG00000020515

Domain	Start	End	E-Value	Type
Pfam:CAF1	13	75	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172035

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Meta Mutation Damage Score

0.8706

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acox3	A	G	5: 35,761,982 (GRCm39)	N442S	probably benign	Het
Acp5	C	A	9: 22,041,248 (GRCm39)	V60L	probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Btd	G	A	14: 31,363,093 (GRCm39)		probably null	Het
Cfap251	A	C	5: 123,392,331 (GRCm39)		probably benign	Het
Cfap74	T	A	4: 155,540,166 (GRCm39)		probably benign	Het
Col4a4	G	T	1: 82,510,657 (GRCm39)	A205E	unknown	Het
Cwf19l1	T	C	19: 44,119,911 (GRCm39)	T77A	probably benign	Het
Cyp2b9	A	G	7: 25,886,132 (GRCm39)	T100A	probably benign	Het
Ddx24	A	G	12: 103,383,996 (GRCm39)	L485P	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089 (GRCm38)	E272V	possibly damaging	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Fmo3	A	T	1: 162,794,527 (GRCm39)	I181K	probably benign	Het
Golga3	T	C	5: 110,349,734 (GRCm39)	I655T	probably damaging	Het
Hspa1l	A	T	17: 35,196,164 (GRCm39)	T68S	probably benign	Het
Itgax	C	T	7: 127,741,505 (GRCm39)	R839W	probably damaging	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,857,266 (GRCm39)	A318V	probably benign	Het
Krt78	T	C	15: 101,855,069 (GRCm39)	Y914C	probably benign	Het
Lactb2	T	C	1: 13,730,563 (GRCm39)	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Magi1	T	C	6: 93,722,891 (GRCm39)	D329G	probably damaging	Het
Map3k5	T	A	10: 19,986,603 (GRCm39)	V939E	probably benign	Het
Mcm8	C	T	2: 132,666,658 (GRCm39)	A233V	probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Mical2	G	T	7: 111,919,941 (GRCm39)		probably null	Het
Nudt13	A	G	14: 20,361,581 (GRCm39)	E219G	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Or52d3	A	T	7: 104,229,141 (GRCm39)	H96L	probably benign	Het
Or6b1	A	G	6: 42,814,983 (GRCm39)	H56R	probably benign	Het
Osbpl7	A	C	11: 96,950,004 (GRCm39)	D395A	probably benign	Het
Osbpl9	A	G	4: 108,923,415 (GRCm39)	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Pcnx4	T	A	12: 72,603,037 (GRCm39)	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838 (GRCm39)	P158S	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,695,511 (GRCm39)	Y187H	probably damaging	Het
Resp18	T	C	1: 75,248,955 (GRCm39)	*176W	probably null	Het
Rps6ka2	A	C	17: 7,566,738 (GRCm39)	Q665H	possibly damaging	Het
Rtn1	T	C	12: 72,351,052 (GRCm39)	T386A	probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,104,187 (GRCm39)	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,216,537 (GRCm39)	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,664,410 (GRCm39)	E6G	probably damaging	Het
Tchh	G	T	3: 93,352,936 (GRCm39)	R792L	unknown	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,250,143 (GRCm39)	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,638,842 (GRCm39)	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het

Other mutations in Cnot8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Cnot8	APN	11	58,002,188 (GRCm39)	missense	probably damaging	1.00
IGL01774:Cnot8	APN	11	58,006,133 (GRCm39)	missense	probably benign	0.01
IGL02877:Cnot8	APN	11	58,002,228 (GRCm39)	missense	probably benign	0.01
straws	UTSW	11	58,004,891 (GRCm39)	missense	probably damaging	1.00
R0465:Cnot8	UTSW	11	58,004,886 (GRCm39)	missense	probably damaging	0.99
R1802:Cnot8	UTSW	11	58,008,361 (GRCm39)	missense	probably benign	0.01
R2419:Cnot8	UTSW	11	58,006,136 (GRCm39)	missense	probably damaging	1.00
R5199:Cnot8	UTSW	11	58,006,100 (GRCm39)	nonsense	probably null
R5257:Cnot8	UTSW	11	58,008,348 (GRCm39)	missense	possibly damaging	0.94
R5317:Cnot8	UTSW	11	58,004,029 (GRCm39)	missense	probably damaging	1.00
R5351:Cnot8	UTSW	11	58,006,147 (GRCm39)	missense	probably damaging	1.00
R5702:Cnot8	UTSW	11	58,004,873 (GRCm39)	missense	possibly damaging	0.71
R6106:Cnot8	UTSW	11	58,004,816 (GRCm39)	missense	probably damaging	0.96
R6261:Cnot8	UTSW	11	58,004,877 (GRCm39)	missense	probably damaging	1.00
R6419:Cnot8	UTSW	11	58,004,891 (GRCm39)	missense	probably damaging	1.00
R6947:Cnot8	UTSW	11	58,008,331 (GRCm39)	missense	probably benign	0.03
R7070:Cnot8	UTSW	11	58,008,278 (GRCm39)	missense	probably benign	0.00
R7888:Cnot8	UTSW	11	58,002,137 (GRCm39)	missense	probably benign
Z1176:Cnot8	UTSW	11	58,003,916 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CAGGGTACTGTTTGGGAAGAAT -3'
(R):5'- CTCAGCCTCTGTAGATAGACTAAC -3'

Sequencing Primer
(F):5'- GAGTGAAGGTCTGAAAAATGGCTAC -3'
(R):5'- CATTCCTACTGTAGAAAGCAGAAG -3'

Posted On

2014-11-12