Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Cnot6l'

658410

Institutional Source

Beutler Lab

Gene Symbol

Cnot6l

Ensembl Gene

ENSMUSG00000034724

Gene Name

CCR4-NOT transcription complex, subunit 6-like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96070333-96164171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96077317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 506 (W506R)

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

probably damaging
Transcript: ENSMUST00000113005
AA Change: W511R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: W511R

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

probably damaging
Transcript: ENSMUST00000155901
AA Change: W506R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: W506R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 40,755,152	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,820,702	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,526,080	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,650,822	L272P	probably damaging	Het
Atp11b	G	T	3: 35,810,705	R559I	probably benign	Het
Bhmt	T	A	13: 93,620,092	I343F	probably benign	Het
Btbd7	A	T	12: 102,788,372	F712I	probably damaging	Het
Card14	T	C	11: 119,331,244	L455P	probably benign	Het
Cast	A	T	13: 74,798,716	H26Q	probably benign	Het
Clcn1	A	G	6: 42,307,199	N567S	probably damaging	Het
Dynap	T	A	18: 70,240,973	I161L	unknown	Het
Eif4g3	A	C	4: 138,165,928	T996P	probably damaging	Het
Exoc8	A	G	8: 124,897,110	Y173H	probably benign	Het
Fbll1	C	T	11: 35,798,080	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,385,000	F249L	probably benign	Het
Fxyd1	C	A	7: 31,053,104		probably benign	Het
Gm10130	T	C	2: 150,362,987	S74P	probably benign	Het
Grhl3	C	A	4: 135,549,238		probably null	Het
Grk4	A	G	5: 34,745,346	E414G	possibly damaging	Het
H2-Q5	A	G	17: 35,394,844	D123G		Het
H2-Q5	C	T	17: 35,394,969	R165*	probably null	Het
Hgf	A	T	5: 16,566,856	E160D	probably damaging	Het
Hist1h2bg	T	A	13: 23,571,706	S92T	probably benign	Het
Ifi211	T	C	1: 173,905,520	I192V	probably benign	Het
Klk1b22	T	C	7: 44,112,720	F7L	probably benign	Het
Lcmt1	C	A	7: 123,430,148	T331N	probably benign	Het
Lrrc36	A	T	8: 105,449,536	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,748,684	S520T	probably benign	Het
Nacc1	A	T	8: 84,676,716	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,209,657	V888E	probably damaging	Het
Oc90	C	T	15: 65,881,556	G305S	probably damaging	Het
Olfr556	T	A	7: 102,670,805	I295N	probably damaging	Het
Olfr559	A	G	7: 102,723,725	V255A	probably damaging	Het
Pappa2	T	A	1: 158,936,522	D473V	probably damaging	Het
Pou2f2	C	A	7: 25,100,198	G117C	probably damaging	Het
Prkci	A	G	3: 31,025,217	H68R	probably damaging	Het
Pygm	A	G	19: 6,390,362	K479E	probably damaging	Het
Qpct	A	G	17: 79,077,567	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,359,204	M1K	probably null	Het
Slc22a5	A	G	11: 53,867,643	S444P	probably damaging	Het
Snai3	G	A	8: 122,456,405	H134Y	probably benign	Het
Synpo	T	C	18: 60,602,972	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,072,964	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,190,534	Y233H		Het
Ttn	A	G	2: 76,918,991	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,804,615	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,454,751	M3I	probably benign	Het
Vmn2r61	T	A	7: 42,300,276	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,320	S2499P	probably damaging	Het
Ythdf3	A	G	3: 16,205,015	E442G	possibly damaging	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
R6382:Cnot6l	UTSW	5	96128999	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTCCATAGCGACAGATC -3'
(R):5'- TCTACAGTCAGAGTAACAGGTATCG -3'

Sequencing Primer
(F):5'- TAGCGACAGATCCCCGTCTC -3'
(R):5'- ACAGGTATCGGGAATTACAGGTTTTC -3'

Posted On

2021-01-18