Mutagenetix > Incidental Mutation

Incidental Mutation 'R6106:Cnot8'

485519

Institutional Source

Beutler Lab

Gene Symbol

Cnot8

Ensembl Gene

ENSMUSG00000020515

Gene Name

CCR4-NOT transcription complex, subunit 8

Synonyms

1500015I04Rik, 1810022F04Rik

MMRRC Submission

044256-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R6106 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57994979-58009420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58004816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 172 (S172P)

Ref Sequence

ENSEMBL: ENSMUSP00000104471 (fasta)

Gene Model

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

AlphaFold

Q9D8X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020822
AA Change: S172P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: S172P

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: S172P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: S172P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,879,838 (GRCm39)	E726G	probably damaging	Het
Adgrl4	A	G	3: 151,246,622 (GRCm39)	I641V	possibly damaging	Het
Apoa5	A	T	9: 46,181,931 (GRCm39)	R336*	probably null	Het
Bfsp2	T	A	9: 103,357,023 (GRCm39)	T135S	probably benign	Het
Calhm2	A	T	19: 47,121,501 (GRCm39)	Y223N	probably damaging	Het
Ccdc158	T	C	5: 92,775,325 (GRCm39)	E960G	probably benign	Het
Ccdc80	T	C	16: 44,917,073 (GRCm39)	S610P	probably benign	Het
Cdon	T	A	9: 35,366,704 (GRCm39)	Y193*	probably null	Het
Cept1	A	T	3: 106,410,992 (GRCm39)	H400Q	probably benign	Het
Cfap144	T	C	11: 58,687,427 (GRCm39)	E66G	probably damaging	Het
Clspn	T	A	4: 126,484,434 (GRCm39)	N1197K	probably benign	Het
Col14a1	T	C	15: 55,383,404 (GRCm39)	I1794T	probably damaging	Het
Cracdl	T	C	1: 37,652,493 (GRCm39)	T1105A	possibly damaging	Het
Fam193a	A	T	5: 34,616,374 (GRCm39)	T564S	possibly damaging	Het
Galnt1	G	A	18: 24,387,720 (GRCm39)	V154I	probably benign	Het
Gstcd	C	A	3: 132,704,675 (GRCm39)	E526D	probably benign	Het
Ighv1-42	A	C	12: 114,900,907 (GRCm39)	S59R	probably benign	Het
Morn3	A	G	5: 123,184,823 (GRCm39)	C6R	possibly damaging	Het
Nrdc	A	T	4: 108,901,782 (GRCm39)	K617M	probably damaging	Het
Or2aj4	A	G	16: 19,385,009 (GRCm39)	L208P	probably damaging	Het
Or51ai2	A	G	7: 103,587,400 (GRCm39)	H271R	probably benign	Het
Or8b36	T	A	9: 37,937,762 (GRCm39)	I220N	probably damaging	Het
Or8b49	T	C	9: 38,506,252 (GRCm39)	M245T	probably benign	Het
Pcdhb11	A	G	18: 37,556,056 (GRCm39)	N462S	probably damaging	Het
Pfpl	G	T	19: 12,406,825 (GRCm39)	D359Y	probably damaging	Het
Phyhip	T	C	14: 70,699,299 (GRCm39)	V34A	probably benign	Het
Pigu	A	T	2: 155,139,116 (GRCm39)	I313N	possibly damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Psg16	T	A	7: 16,829,091 (GRCm39)	F225Y	possibly damaging	Het
Setdb2	T	A	14: 59,660,898 (GRCm39)	K82*	probably null	Het
Sgms1	A	G	19: 32,101,825 (GRCm39)	S394P	possibly damaging	Het
Slc16a1	T	C	3: 104,560,310 (GRCm39)	L205P	probably benign	Het
Slc19a1	T	A	10: 76,880,603 (GRCm39)	I380N	probably damaging	Het
Snx32	A	G	19: 5,548,042 (GRCm39)	I131T	probably benign	Het
Sorbs3	T	C	14: 70,430,053 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,392 (GRCm39)	I215L	probably benign	Het
Tln2	C	T	9: 67,230,302 (GRCm39)	A84T	probably damaging	Het
Tomm34	A	G	2: 163,902,911 (GRCm39)	M133T	probably benign	Het
Usp43	A	G	11: 67,770,733 (GRCm39)	S634P	probably benign	Het
Vmn2r59	T	A	7: 41,661,749 (GRCm39)	R689*	probably null	Het
Vmn2r9	C	T	5: 108,992,902 (GRCm39)	R536Q	probably benign	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het
Zfhx2	T	A	14: 55,305,767 (GRCm39)		probably null	Het
Zfp1004	A	G	2: 150,034,725 (GRCm39)	K349E	probably damaging	Het
Zfp608	G	T	18: 55,120,944 (GRCm39)	H214Q	possibly damaging	Het
Zfp619	T	C	7: 39,184,558 (GRCm39)	V196A	probably benign	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
R2418:Cnot8	UTSW	11	58,006,136 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGGCTCTTACGGCTTTAC -3'
(R):5'- CAAAACAAGCCTGAGTGTGG -3'

Sequencing Primer
(F):5'- ACAAACTCTCAGGTTCTTGTGTG -3'
(R):5'- CAAGCCTGAGTGTGGGAGTC -3'

Posted On

2017-08-16