Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Cnot6l'

605693

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 #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96070333-96164171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96094225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 213 (E213G)

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: E218G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: E218G

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: E213G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: E213G

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: ENSMUST00000155901
AA Change: E213G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: E213G

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,009,800	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,512,672	V95M	probably damaging	Het
Ano7	A	G	1: 93,394,473	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,578,305	T176I	possibly damaging	Het
Armc2	A	C	10: 41,966,796	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400	Y33F	probably benign	Het
Banp	A	G	8: 122,020,552	S447G	probably benign	Het
Car8	T	A	4: 8,238,860	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,218,675	P124S	probably damaging	Het
Cdc23	A	T	18: 34,647,019	D85E	probably benign	Het
Cntnap4	A	G	8: 112,757,481	T389A	probably benign	Het
Cramp1l	A	T	17: 24,983,222	C429S	probably damaging	Het
Crygn	T	C	5: 24,756,074	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,217,668	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,683,982	V61M	probably benign	Het
Dnaic1	A	G	4: 41,605,823	E271G	probably benign	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Emsy	G	A	7: 98,639,853	T79M	probably damaging	Het
Ergic1	A	G	17: 26,634,475	D145G	probably damaging	Het
Fah	A	G	7: 84,595,478	V229A	probably damaging	Het
Fam196b	A	G	11: 34,403,034	T359A	probably benign	Het
Fam76a	G	A	4: 132,902,031	T270I	probably damaging	Het
Fat4	A	T	3: 39,001,204	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,511,717	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gabbr2	A	T	4: 46,734,096	S541T	probably benign	Het
Gm7489	A	G	15: 53,886,006	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,263,872	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,518,699	T13S	probably benign	Het
Il23r	T	C	6: 67,423,862	T495A	probably benign	Het
Irf5	A	G	6: 29,535,462	T230A	probably benign	Het
Itga2b	A	T	11: 102,457,282	I831N	probably damaging	Het
Itgb4	A	G	11: 116,000,261	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,390,923	P605Q	probably benign	Het
Larp7	A	T	3: 127,544,267	M381K	possibly damaging	Het
Lfng	G	A	5: 140,612,833	G269D	probably benign	Het
Liph	T	C	16: 21,962,236	I335V	probably benign	Het
Map2k2	A	T	10: 81,118,206	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,987,060		probably null	Het
Nod2	A	G	8: 88,660,797		probably null	Het
Olfr1413	T	C	1: 92,573,497	F109L	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr610	A	C	7: 103,506,379	L189R	probably damaging	Het
Pcdh20	G	T	14: 88,469,707	F52L	probably null	Het
Pkhd1	A	T	1: 20,502,999	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,504,192	D412V	possibly damaging	Het
Pole	T	G	5: 110,317,797	M1197R	probably benign	Het
Pom121l2	C	T	13: 21,983,878	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,684,546	M497K	probably benign	Het
Rbm45	G	T	2: 76,376,453	V270F	possibly damaging	Het
Ros1	A	T	10: 52,144,861	F673I	probably damaging	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Scn4a	A	G	11: 106,322,015	I1388T	probably benign	Het
Sema3c	G	A	5: 17,694,847	V446I	probably damaging	Het
Six4	T	C	12: 73,112,634	Y176C	probably damaging	Het
Slc35a5	T	A	16: 45,144,207	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,693,063	I76T	probably damaging	Het
Slfn4	A	G	11: 83,186,593	D69G	probably damaging	Het
Smc6	T	C	12: 11,317,843	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,562,390	S9G	probably benign	Het
Stx8	T	A	11: 68,109,280	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,413,671	C232S	probably benign	Het
Susd4	G	A	1: 182,858,505	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539	P3350S	probably benign	Het
Tbx20	A	T	9: 24,773,812	S12T	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Umodl1	A	T	17: 30,973,692		probably null	Het
Vmn1r201	T	C	13: 22,475,368	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 20,846,671	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,385,923	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,293,830	R852W	probably damaging	Het
Wdr41	A	T	13: 95,015,193	N287I	probably benign	Het
Zfp202	A	G	9: 40,210,462	D285G	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCCTCAGTCAGCAATACAG -3'
(R):5'- ATGCATGCATATTCTTGATACTGAG -3'

Sequencing Primer
(F):5'- CAGTCAGCAATACAGTTACACTATG -3'
(R):5'- TGATACTGAGTAACAAAAAGTTGCC -3'

Posted On

2019-12-20