Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Cnot10'

200365

Institutional Source

Beutler Lab

Gene Symbol

Cnot10

Ensembl Gene

ENSMUSG00000056167

Gene Name

CCR4-NOT transcription complex, subunit 10

Synonyms

MMRRC Submission

039773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114585878-114640184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114597824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 616 (D616G)

Ref Sequence

ENSEMBL: ENSMUSP00000064840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070117] [ENSMUST00000215155] [ENSMUST00000217148]

AlphaFold

Q8BH15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070117
AA Change: D616G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: D616G

Domain	Start	End	E-Value	Type
Blast:TPR	27	60	2e-10	BLAST
coiled coil region	73	107	N/A	INTRINSIC
TPR	110	143	4.32e1	SMART
low complexity region	182	198	N/A	INTRINSIC
TPR	293	326	3.37e-2	SMART
TPR	355	388	6.75e1	SMART
low complexity region	496	508	N/A	INTRINSIC
TPR	643	676	7.87e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157300

Predicted Effect

probably benign
Transcript: ENSMUST00000215155

Predicted Effect

probably benign
Transcript: ENSMUST00000217148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217296

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,660,506 (GRCm38)	N37S	probably damaging	Het
9530053A07Rik	G	T	7: 28,157,854 (GRCm38)	C2209F	probably damaging	Het
Acad10	T	C	5: 121,647,836 (GRCm38)	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252 (GRCm38)	N260D	probably benign	Het
Adam24	T	C	8: 40,679,603 (GRCm38)	Y37H	probably benign	Het
Ahcy	G	A	2: 155,064,234 (GRCm38)	A229V	probably benign	Het
Ap3b2	A	G	7: 81,467,599 (GRCm38)	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,509,689 (GRCm38)	M1427K	probably damaging	Het
Btf3	C	T	13: 98,316,296 (GRCm38)	M1I	probably null	Het
Btg4	A	T	9: 51,116,610 (GRCm38)	I27L	probably benign	Het
Ccdc171	A	G	4: 83,620,839 (GRCm38)	Y366C	probably damaging	Het
Chd3	A	G	11: 69,355,654 (GRCm38)	Y1085H	probably damaging	Het
Crlf1	C	A	8: 70,500,906 (GRCm38)	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,673,077 (GRCm38)	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,493,157 (GRCm38)	S534P	probably damaging	Het
Eln	A	G	5: 134,729,184 (GRCm38)	V185A	unknown	Het
Epor	C	T	9: 21,959,771 (GRCm38)	G301D	probably damaging	Het
Fam83f	T	G	15: 80,692,267 (GRCm38)	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,537,102 (GRCm38)	T340S	probably benign	Het
Fez1	T	A	9: 36,843,733 (GRCm38)	D9E	probably damaging	Het
Fsip2	T	C	2: 82,989,912 (GRCm38)	F5330L	probably benign	Het
Glis1	G	A	4: 107,568,347 (GRCm38)	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,786,002 (GRCm38)		probably null	Het
Gpr158	A	G	2: 21,827,548 (GRCm38)	N1153S	probably benign	Het
Gramd4	T	C	15: 86,091,529 (GRCm38)		probably null	Het
Hhatl	T	A	9: 121,789,059 (GRCm38)	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,086,188 (GRCm38)	W422R	probably damaging	Het
Hspa5	T	C	2: 34,772,692 (GRCm38)	S87P	possibly damaging	Het
Il21	T	C	3: 37,227,662 (GRCm38)	H111R	probably benign	Het
Ip6k1	G	A	9: 108,040,984 (GRCm38)	G73S	probably benign	Het
Kdm5b	A	G	1: 134,618,017 (GRCm38)	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,156,142 (GRCm38)	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,845,234 (GRCm38)		probably benign	Het
Lrrc14b	A	G	13: 74,363,586 (GRCm38)	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 24,899,854 (GRCm38)	S1169P	probably damaging	Het
Me3	A	T	7: 89,851,833 (GRCm38)	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,816,244 (GRCm38)		probably null	Het
Nf1	T	C	11: 79,443,931 (GRCm38)	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350 (GRCm38)	G525S	probably damaging	Het
Nyap1	A	T	5: 137,733,125 (GRCm38)	S726T	probably damaging	Het
Padi4	A	G	4: 140,746,170 (GRCm38)	V652A	probably damaging	Het
Pclo	A	G	5: 14,676,510 (GRCm38)		probably benign	Het
Pgm2	G	A	4: 99,964,865 (GRCm38)		probably null	Het
Piezo2	A	G	18: 63,021,173 (GRCm38)	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624 (GRCm38)	D386E	probably damaging	Het
Ptk2	A	G	15: 73,242,406 (GRCm38)	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922 (GRCm38)	V154A	probably damaging	Het
Rassf4	T	C	6: 116,639,489 (GRCm38)	E287G	probably damaging	Het
Rnh1	C	T	7: 141,164,023 (GRCm38)	R174H	probably benign	Het
Scn9a	T	A	2: 66,487,594 (GRCm38)	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,305,813 (GRCm38)	A90E	probably benign	Het
Slc39a14	T	C	14: 70,318,744 (GRCm38)	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,784,858 (GRCm38)	M733R	probably benign	Het
Tmem248	A	G	5: 130,236,823 (GRCm38)	I156V	probably benign	Het
Traf2	T	C	2: 25,524,483 (GRCm38)	D339G	probably damaging	Het
Trappc11	A	G	8: 47,529,327 (GRCm38)		probably null	Het
Tuba8	T	A	6: 121,222,768 (GRCm38)	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,838,947 (GRCm38)	T376A	probably damaging	Het
Usp34	A	G	11: 23,364,103 (GRCm38)	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,061,472 (GRCm38)	F669I	probably damaging	Het
Wdr95	G	A	5: 149,595,396 (GRCm38)		probably null	Het
Wfdc8	T	G	2: 164,608,869 (GRCm38)		probably benign	Het
Zfp64	A	C	2: 168,926,318 (GRCm38)	V458G	probably benign	Het
Zfp868	C	T	8: 69,611,868 (GRCm38)	G272D	probably damaging	Het

Other mutations in Cnot10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Cnot10	APN	9	114,631,855 (GRCm38)	missense	probably benign	0.19
IGL02004:Cnot10	APN	9	114,622,930 (GRCm38)	missense	probably damaging	1.00
IGL03297:Cnot10	APN	9	114,598,716 (GRCm38)	missense	possibly damaging	0.87
BB003:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
BB013:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
R0348:Cnot10	UTSW	9	114,598,770 (GRCm38)	missense	probably benign	0.10
R0390:Cnot10	UTSW	9	114,629,150 (GRCm38)	nonsense	probably null
R1256:Cnot10	UTSW	9	114,610,681 (GRCm38)	missense	probably damaging	1.00
R1471:Cnot10	UTSW	9	114,591,551 (GRCm38)	missense	probably benign	0.00
R1607:Cnot10	UTSW	9	114,629,095 (GRCm38)	nonsense	probably null
R1721:Cnot10	UTSW	9	114,614,999 (GRCm38)	missense	probably benign
R2116:Cnot10	UTSW	9	114,626,436 (GRCm38)	missense	probably damaging	1.00
R4073:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4074:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4075:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4365:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4383:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4385:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4398:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4423:Cnot10	UTSW	9	114,617,920 (GRCm38)	missense	probably damaging	1.00
R4859:Cnot10	UTSW	9	114,627,464 (GRCm38)	missense	probably damaging	1.00
R4916:Cnot10	UTSW	9	114,629,134 (GRCm38)	missense	possibly damaging	0.72
R4927:Cnot10	UTSW	9	114,617,944 (GRCm38)	missense	probably damaging	1.00
R5153:Cnot10	UTSW	9	114,613,735 (GRCm38)	missense	probably damaging	1.00
R5677:Cnot10	UTSW	9	114,629,093 (GRCm38)	missense	probably damaging	1.00
R5702:Cnot10	UTSW	9	114,629,010 (GRCm38)	missense	probably damaging	0.98
R5790:Cnot10	UTSW	9	114,625,917 (GRCm38)	splice site	probably null
R6190:Cnot10	UTSW	9	114,632,723 (GRCm38)	missense	probably damaging	1.00
R6353:Cnot10	UTSW	9	114,597,546 (GRCm38)	missense	probably damaging	1.00
R6463:Cnot10	UTSW	9	114,625,902 (GRCm38)	missense	probably damaging	1.00
R6819:Cnot10	UTSW	9	114,615,055 (GRCm38)	missense	probably benign	0.10
R6849:Cnot10	UTSW	9	114,631,936 (GRCm38)	missense	probably benign	0.01
R6875:Cnot10	UTSW	9	114,615,107 (GRCm38)	missense	probably benign	0.00
R7071:Cnot10	UTSW	9	114,617,719 (GRCm38)	splice site	probably null
R7408:Cnot10	UTSW	9	114,631,826 (GRCm38)	missense	probably benign	0.33
R7412:Cnot10	UTSW	9	114,625,903 (GRCm38)	missense	probably damaging	1.00
R7645:Cnot10	UTSW	9	114,613,637 (GRCm38)	missense	probably benign
R7706:Cnot10	UTSW	9	114,593,438 (GRCm38)	missense	probably damaging	0.98
R7926:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
R8187:Cnot10	UTSW	9	114,597,488 (GRCm38)	nonsense	probably null
R8322:Cnot10	UTSW	9	114,627,469 (GRCm38)	missense	probably damaging	0.99
R8412:Cnot10	UTSW	9	114,610,670 (GRCm38)	missense	probably benign	0.11
R8904:Cnot10	UTSW	9	114,601,355 (GRCm38)	missense	probably benign	0.06
R9340:Cnot10	UTSW	9	114,631,829 (GRCm38)	missense	probably benign	0.01
R9691:Cnot10	UTSW	9	114,591,647 (GRCm38)	missense	probably damaging	1.00
X0062:Cnot10	UTSW	9	114,615,134 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCACAGAACTGGGGTAGCACTGAG -3'
(R):5'- GGCAGTGAGGTTGCATCCTGATAC -3'

Sequencing Primer
(F):5'- CGGATGAAGGGGCTGTG -3'
(R):5'- GCATCCTGATACCTTTAGCAGAG -3'

Posted On

2014-05-23