Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Cnot6l'

515361

Institutional Source

Beutler Lab

Gene Symbol

Cnot6l

Ensembl Gene

ENSMUSG00000034724

Gene Name

CCR4-NOT transcription complex, subunit 6-like

Synonyms

MMRRC Submission

044531-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96070333-96164171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96128999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 110 (R110L)

Ref Sequence

ENSEMBL: ENSMUSP00000113821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000129646] [ENSMUST00000137207] [ENSMUST00000141383] [ENSMUST00000154500] [ENSMUST00000155901]

AlphaFold

Q8VEG6

Predicted Effect

probably benign
Transcript: ENSMUST00000036646

Predicted Effect

probably damaging
Transcript: ENSMUST00000113005
AA Change: R115L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: R115L

Domain	Start	End	E-Value	Type
LRR	55	77	4.34e-1	SMART
LRR	78	100	1.01e-1	SMART
LRR	101	124	7.55e-1	SMART
Pfam:Exo_endo_phos	192	529	7.3e-22	PFAM
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122003
AA Change: R110L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: R110L

Domain	Start	End	E-Value	Type
LRR	50	72	4.34e-1	SMART
LRR	73	95	1.01e-1	SMART
LRR	96	119	7.55e-1	SMART
Pfam:Exo_endo_phos	187	433	1.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129646
AA Change: R110L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123653
Gene: ENSMUSG00000034724
AA Change: R110L

Domain	Start	End	E-Value	Type
LRR	50	72	4.34e-1	SMART
LRR	73	95	1.01e-1	SMART
LRR	96	119	7.55e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137066

Predicted Effect

probably benign
Transcript: ENSMUST00000137207

SMART Domains

Protein: ENSMUSP00000121627
Gene: ENSMUSG00000034724

Domain	Start	End	E-Value	Type
LRR_TYP	50	73	6.67e-2	SMART
Pfam:LRR_1	75	87	6.9e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141383

SMART Domains

Protein: ENSMUSP00000114436
Gene: ENSMUSG00000034724

Domain	Start	End	E-Value	Type
LRR	50	72	4.34e-1	SMART
LRR_TYP	73	96	1.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154500

Predicted Effect

probably damaging
Transcript: ENSMUST00000155901
AA Change: R110L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: R110L

Domain	Start	End	E-Value	Type
LRR	50	72	4.34e-1	SMART
LRR	73	95	1.01e-1	SMART
LRR	96	119	7.55e-1	SMART
Pfam:Exo_endo_phos	187	524	2.2e-23	PFAM
low complexity region	527	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.2593

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,600,986	M148K	probably benign	Het
Aldoc	T	C	11: 78,325,742	I242T	probably benign	Het
Camta2	T	C	11: 70,672,041	T927A	probably damaging	Het
Ccdc105	G	A	10: 78,752,841	T45I	possibly damaging	Het
Ccdc30	T	C	4: 119,404,166	R25G	possibly damaging	Het
Cdh16	T	A	8: 104,621,543	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,626,120		probably null	Het
Col7a1	G	A	9: 108,975,393	S2264N	unknown	Het
Cspp1	A	G	1: 10,083,475		probably null	Het
Cul1	T	A	6: 47,502,439	L213Q	probably damaging	Het
Cuta	T	C	17: 26,938,454	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,700,690	N200K	probably damaging	Het
Dag1	C	A	9: 108,208,137	A602S	possibly damaging	Het
Gm4707	G	A	17: 71,459,243		probably benign	Het
Gm813	T	C	16: 58,613,910	E148G	possibly damaging	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,031,832	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,569,006	M408L	probably benign	Het
Hpse2	A	G	19: 43,388,202	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,991,327	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,517		probably null	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,680,688	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,371,830	Q62*	probably null	Het
Jakmip2	A	G	18: 43,571,179	S367P	possibly damaging	Het
Lrrc40	A	G	3: 158,058,696	D416G	probably damaging	Het
Mdm2	A	G	10: 117,692,721	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 75,125,769		probably null	Het
Myo1b	C	T	1: 51,774,307		probably null	Het
Notch2	A	G	3: 98,141,543	D1799G	probably damaging	Het
Obscn	C	T	11: 58,999,413	G7431D	unknown	Het
Obscn	A	T	11: 59,042,208	C4781S	probably damaging	Het
Olfr1351	C	A	10: 79,017,517	S65Y	probably damaging	Het
Olfr237-ps1	T	A	6: 43,153,965	I220N	probably damaging	Het
Pard3	T	A	8: 127,376,783	V411D	probably damaging	Het
Pfkl	T	C	10: 77,999,837	R246G	probably damaging	Het
Pgs1	T	C	11: 118,003,360	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,719,998	E15G	possibly damaging	Het
Pja2	A	G	17: 64,309,615	V95A	probably benign	Het
Ripor2	T	C	13: 24,677,845	I207T	possibly damaging	Het
Rps15	A	G	10: 80,293,986	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,352,059	E192*	probably null	Het
Slc23a4	T	A	6: 34,957,043	M42L	probably benign	Het
Snx25	T	A	8: 46,055,991	S373C	probably benign	Het
Sppl2a	A	T	2: 126,917,029		probably null	Het
Tpcn2	A	G	7: 145,269,749	S256P	possibly damaging	Het
Txk	C	T	5: 72,736,480		probably benign	Het
Ubr2	C	G	17: 46,957,315	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,294,675	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,935,297	A35E	probably benign	Het
Ush2a	A	G	1: 188,814,302	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,553,361	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,930,499	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,407,908	N715D	probably benign	Het
Zfp933	T	C	4: 147,825,868	S424G	probably benign	Het

Other mutations in Cnot6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Cnot6l	APN	5	96086246	missense	probably damaging	1.00
IGL02102:Cnot6l	APN	5	96091659	missense	probably damaging	0.98
BB005:Cnot6l	UTSW	5	96131068	missense	possibly damaging	0.95
BB015:Cnot6l	UTSW	5	96131068	missense	possibly damaging	0.95
R0443:Cnot6l	UTSW	5	96091745	splice site	probably benign
R0448:Cnot6l	UTSW	5	96080046	missense	probably benign	0.00
R1436:Cnot6l	UTSW	5	96134112	missense	probably damaging	1.00
R2198:Cnot6l	UTSW	5	96079941	missense	possibly damaging	0.79
R4240:Cnot6l	UTSW	5	96077362	missense	probably benign
R4506:Cnot6l	UTSW	5	96086174	missense	possibly damaging	0.93
R4624:Cnot6l	UTSW	5	96077211	missense	probably benign	0.05
R4627:Cnot6l	UTSW	5	96077211	missense	probably benign	0.05
R4629:Cnot6l	UTSW	5	96077211	missense	probably benign	0.05
R4868:Cnot6l	UTSW	5	96083023	missense	probably damaging	1.00
R4936:Cnot6l	UTSW	5	96079937	missense	probably damaging	1.00
R5597:Cnot6l	UTSW	5	96131119	missense	probably damaging	1.00
R5781:Cnot6l	UTSW	5	96086165	missense	probably benign	0.31
R6142:Cnot6l	UTSW	5	96082978	missense	probably benign	0.00
R6166:Cnot6l	UTSW	5	96079940	missense	possibly damaging	0.79
R6189:Cnot6l	UTSW	5	96098277	missense	probably benign	0.18
R6515:Cnot6l	UTSW	5	96161678	intron	probably benign
R6773:Cnot6l	UTSW	5	96094299	missense	probably damaging	1.00
R7326:Cnot6l	UTSW	5	96077299	missense	probably benign	0.00
R7466:Cnot6l	UTSW	5	96131128	missense	probably benign	0.01
R7832:Cnot6l	UTSW	5	96094225	missense	possibly damaging	0.90
R7928:Cnot6l	UTSW	5	96131068	missense	possibly damaging	0.95
R8310:Cnot6l	UTSW	5	96091676	missense	probably benign
R8499:Cnot6l	UTSW	5	96077317	missense	probably damaging	1.00
R8698:Cnot6l	UTSW	5	96077290	missense	probably damaging	1.00
R9029:Cnot6l	UTSW	5	96098277	missense	probably benign	0.18
R9100:Cnot6l	UTSW	5	96083016	missense	probably damaging	1.00
R9377:Cnot6l	UTSW	5	96128967	missense	probably benign	0.01
R9485:Cnot6l	UTSW	5	96082999	missense	probably damaging	0.99
R9685:Cnot6l	UTSW	5	96082890	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGCACCTTTAACAAATCCTTC -3'
(R):5'- TGTGCTACAGAATGAGTGAGTC -3'

Sequencing Primer
(F):5'- AACAAATCCTTCTCACTCTTTCAG -3'
(R):5'- GAATGACAAATGCAGACATT -3'

Posted On

2018-05-04