Mutagenetix > Incidental Mutation

Incidental Mutation 'R6261:Cnot8'

506713

Institutional Source

Beutler Lab

Gene Symbol

Cnot8

Ensembl Gene

ENSMUSG00000020515

Gene Name

CCR4-NOT transcription complex, subunit 8

Synonyms

1500015I04Rik, 1810022F04Rik

MMRRC Submission

044404-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R6261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57994979-58009420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58004877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 192 (I192N)

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: I192N

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

SMART Domains

Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: I192N

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: I192N

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

SMART Domains

Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: I192N

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

Meta Mutation Damage Score

0.8680

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	T	C	2: 164,636,979 (GRCm39)	D257G	probably damaging	Het
Adamtsl1	T	C	4: 86,255,115 (GRCm39)	V736A	probably benign	Het
Anln	A	G	9: 22,275,342 (GRCm39)	L521S	probably damaging	Het
Arfgap2	T	G	2: 91,100,627 (GRCm39)	S311A	probably benign	Het
Brdt	A	T	5: 107,496,369 (GRCm39)	E160D	probably benign	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Cd59a	G	C	2: 103,934,550 (GRCm39)	G6A	probably damaging	Het
Cd5l	C	T	3: 87,275,915 (GRCm39)	P295L	probably benign	Het
Cdhr17	T	C	5: 17,017,183 (GRCm39)		noncoding transcript	Het
Cnot1	A	G	8: 96,468,549 (GRCm39)	S1432P	probably benign	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Cuta	A	G	17: 27,158,301 (GRCm39)	L11P	possibly damaging	Het
Cyp2c39	G	A	19: 39,556,463 (GRCm39)	R433H	probably damaging	Het
Cyp4a12b	T	A	4: 115,271,740 (GRCm39)	Y150*	probably null	Het
Dcaf15	G	A	8: 84,825,734 (GRCm39)	A291V	probably benign	Het
Dcstamp	A	T	15: 39,618,131 (GRCm39)	H180L	possibly damaging	Het
Egfr	A	G	11: 16,839,964 (GRCm39)	I659M	probably benign	Het
Fzd8	A	G	18: 9,214,598 (GRCm39)	E560G	possibly damaging	Het
Gm5111	A	T	6: 48,566,526 (GRCm39)		probably benign	Het
Gm7945	T	C	14: 41,104,780 (GRCm39)	T214A	unknown	Het
Gpi1	T	C	7: 33,920,170 (GRCm39)	T168A	possibly damaging	Het
Gys2	T	C	6: 142,405,134 (GRCm39)	I218V	probably benign	Het
Gzmf	T	A	14: 56,443,949 (GRCm39)	I74L	probably benign	Het
Hacl1	G	A	14: 31,357,728 (GRCm39)	A70V	probably damaging	Het
Herc2	T	A	7: 55,846,820 (GRCm39)	L3590*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igfals	G	T	17: 25,100,339 (GRCm39)	V477F	possibly damaging	Het
Igkv8-28	A	T	6: 70,120,874 (GRCm39)	V23E	probably benign	Het
Isg20l2	T	A	3: 87,839,395 (GRCm39)	V202E	probably damaging	Het
Jakmip2	A	G	18: 43,708,599 (GRCm39)	I288T	probably benign	Het
Kansl3	A	G	1: 36,404,686 (GRCm39)	V88A	probably benign	Het
Kcna3	A	G	3: 106,945,266 (GRCm39)	T510A	possibly damaging	Het
Map2k5	G	T	9: 63,245,380 (GRCm39)	L140I	probably benign	Het
Map3k19	A	G	1: 127,750,336 (GRCm39)	I1005T	possibly damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Ms4a14	T	A	19: 11,281,384 (GRCm39)	E391D	probably benign	Het
Mtrf1l	A	G	10: 5,765,550 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,433,132 (GRCm39)	N1591S	probably damaging	Het
Nos1	G	A	5: 118,074,635 (GRCm39)	V1060M	probably benign	Het
Nsun5	C	T	5: 135,400,385 (GRCm39)	T142M	probably damaging	Het
Odc1	A	G	12: 17,600,655 (GRCm39)	E430G	probably benign	Het
Or8g36	C	A	9: 39,422,105 (GRCm39)	V304F	probably benign	Het
P2ry12	T	C	3: 59,125,328 (GRCm39)	I116V	probably null	Het
Patl1	T	A	19: 11,897,695 (GRCm39)	V94E	probably damaging	Het
Plin3	A	T	17: 56,588,488 (GRCm39)	Y255*	probably null	Het
Pou6f1	T	C	15: 100,477,827 (GRCm39)	T439A	probably damaging	Het
Prdm13	T	C	4: 21,678,366 (GRCm39)	K708R	probably damaging	Het
Prr14l	A	G	5: 32,986,748 (GRCm39)	S916P	possibly damaging	Het
Rab34	T	A	11: 78,082,028 (GRCm39)		probably null	Het
Rps7	A	G	12: 28,685,593 (GRCm39)	S21P	possibly damaging	Het
Scn9a	A	T	2: 66,314,240 (GRCm39)	L1815Q	probably damaging	Het
Sesn3	A	G	9: 14,232,459 (GRCm39)	Y244C	probably benign	Het
Slc15a2	A	G	16: 36,581,973 (GRCm39)	F284L	probably benign	Het
Slc25a44	C	T	3: 88,328,218 (GRCm39)	G72D	probably damaging	Het
Slco6d1	A	G	1: 98,427,588 (GRCm39)	T640A	probably benign	Het
Sspo	A	T	6: 48,439,125 (GRCm39)	E1591V	possibly damaging	Het
Tbata	C	A	10: 61,011,644 (GRCm39)	T60K	possibly damaging	Het
Tbc1d2	T	A	4: 46,637,692 (GRCm39)	T185S	possibly damaging	Het
Tlcd4	T	A	3: 121,028,708 (GRCm39)	I60F	possibly damaging	Het
Tmem87a	A	G	2: 120,234,502 (GRCm39)	S14P	possibly damaging	Het
Tnnt2	C	A	1: 135,778,292 (GRCm39)		probably null	Het
Trex1	A	G	9: 108,887,709 (GRCm39)	V94A	probably benign	Het
Ubtfl1	A	C	9: 18,320,592 (GRCm39)	D40A	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,935 (GRCm39)	Y296N	probably benign	Het
Zfp521	T	A	18: 13,977,684 (GRCm39)	N910Y	probably damaging	Het
Zfp53	A	G	17: 21,728,975 (GRCm39)	E336G	possibly 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
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
R6106:Cnot8	UTSW	11	58,004,816 (GRCm39)	missense	probably damaging	0.96
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'- CATCAGTGCTCTTTGAGAGGC -3'
(R):5'- GGTGCCAGAGTCACCAACAAAG -3'

Sequencing Primer
(F):5'- TGCTCTTTGAGAGGCCCAGC -3'
(R):5'- GCAAGCTCGATTAACATCCTCCTTAG -3'

Posted On

2018-03-15