Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Cnot6l'

490136

Institutional Source

Beutler Lab

Gene Symbol

Cnot6l

Ensembl Gene

ENSMUSG00000034724

Gene Name

CCR4-NOT transcription complex, subunit 6-like

Synonyms

4932442K20Rik

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R6166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96218192-96312030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96227799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 478 (D478G)

Ref Sequence

ENSEMBL: ENSMUSP00000119415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000155901]

AlphaFold

Q8VEG6

Predicted Effect

probably benign
Transcript: ENSMUST00000036646

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113005
AA Change: D483G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: D483G

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 benign
Transcript: ENSMUST00000122003

SMART Domains

Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724

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

noncoding transcript
Transcript: ENSMUST00000152490

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155901
AA Change: D478G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: D478G

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

0.2134

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	probably damaging	Het

Other mutations in Cnot6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Cnot6l	APN	5	96,234,105 (GRCm39)	missense	probably damaging	1.00
IGL02102:Cnot6l	APN	5	96,239,518 (GRCm39)	missense	probably damaging	0.98
BB005:Cnot6l	UTSW	5	96,278,927 (GRCm39)	missense	possibly damaging	0.95
BB015:Cnot6l	UTSW	5	96,278,927 (GRCm39)	missense	possibly damaging	0.95
R0443:Cnot6l	UTSW	5	96,239,604 (GRCm39)	splice site	probably benign
R0448:Cnot6l	UTSW	5	96,227,905 (GRCm39)	missense	probably benign	0.00
R1436:Cnot6l	UTSW	5	96,281,971 (GRCm39)	missense	probably damaging	1.00
R2198:Cnot6l	UTSW	5	96,227,800 (GRCm39)	missense	possibly damaging	0.79
R4240:Cnot6l	UTSW	5	96,225,221 (GRCm39)	missense	probably benign
R4506:Cnot6l	UTSW	5	96,234,033 (GRCm39)	missense	possibly damaging	0.93
R4624:Cnot6l	UTSW	5	96,225,070 (GRCm39)	missense	probably benign	0.05
R4627:Cnot6l	UTSW	5	96,225,070 (GRCm39)	missense	probably benign	0.05
R4629:Cnot6l	UTSW	5	96,225,070 (GRCm39)	missense	probably benign	0.05
R4868:Cnot6l	UTSW	5	96,230,882 (GRCm39)	missense	probably damaging	1.00
R4936:Cnot6l	UTSW	5	96,227,796 (GRCm39)	missense	probably damaging	1.00
R5597:Cnot6l	UTSW	5	96,278,978 (GRCm39)	missense	probably damaging	1.00
R5781:Cnot6l	UTSW	5	96,234,024 (GRCm39)	missense	probably benign	0.31
R6142:Cnot6l	UTSW	5	96,230,837 (GRCm39)	missense	probably benign	0.00
R6189:Cnot6l	UTSW	5	96,246,136 (GRCm39)	missense	probably benign	0.18
R6382:Cnot6l	UTSW	5	96,276,858 (GRCm39)	missense	probably damaging	0.99
R6515:Cnot6l	UTSW	5	96,309,537 (GRCm39)	intron	probably benign
R6773:Cnot6l	UTSW	5	96,242,158 (GRCm39)	missense	probably damaging	1.00
R7326:Cnot6l	UTSW	5	96,225,158 (GRCm39)	missense	probably benign	0.00
R7466:Cnot6l	UTSW	5	96,278,987 (GRCm39)	missense	probably benign	0.01
R7832:Cnot6l	UTSW	5	96,242,084 (GRCm39)	missense	possibly damaging	0.90
R7928:Cnot6l	UTSW	5	96,278,927 (GRCm39)	missense	possibly damaging	0.95
R8310:Cnot6l	UTSW	5	96,239,535 (GRCm39)	missense	probably benign
R8499:Cnot6l	UTSW	5	96,225,176 (GRCm39)	missense	probably damaging	1.00
R8698:Cnot6l	UTSW	5	96,225,149 (GRCm39)	missense	probably damaging	1.00
R9029:Cnot6l	UTSW	5	96,246,136 (GRCm39)	missense	probably benign	0.18
R9100:Cnot6l	UTSW	5	96,230,875 (GRCm39)	missense	probably damaging	1.00
R9377:Cnot6l	UTSW	5	96,276,826 (GRCm39)	missense	probably benign	0.01
R9485:Cnot6l	UTSW	5	96,230,858 (GRCm39)	missense	probably damaging	0.99
R9685:Cnot6l	UTSW	5	96,230,749 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCCCAACAAAGTTCCTTG -3'
(R):5'- ACGGTGGAGTAGCTGACAAC -3'

Sequencing Primer
(F):5'- CCTGCATGTATGTCTGTGAAAC -3'
(R):5'- GAGTAGCTGACAACCATAAAGACTTC -3'

Posted On

2017-10-10