Mutagenetix > Incidental Mutation

Incidental Mutation 'R8310:Cnot6l'

641316

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 #

R8310 (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 96091676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 255 (D255E)

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 benign
Transcript: ENSMUST00000113005
AA Change: D260E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: D260E

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
AA Change: D255E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: D255E

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 benign
Transcript: ENSMUST00000155901
AA Change: D255E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: D255E

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

0.0861

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	G	13: 48,514,251	W10G	unknown	Het
Abca13	A	T	11: 9,378,269	K3447N	possibly damaging	Het
Agtr1a	T	G	13: 30,381,762	V270G	probably benign	Het
Apob	A	T	12: 8,009,033	H2505L	probably benign	Het
Babam1	T	A	8: 71,397,985	V86D	possibly damaging	Het
Cacna1s	C	A	1: 136,087,337	N654K	probably damaging	Het
Ccdc146	A	T	5: 21,301,471		probably benign	Het
Ccdc8	T	C	7: 16,995,401	S272P	probably damaging	Het
Cnksr1	T	C	4: 134,229,419	E510G	probably damaging	Het
Ddx1	A	C	12: 13,224,279		probably benign	Het
Dyrk1a	A	G	16: 94,691,791	T628A	probably benign	Het
Elavl1	A	T	8: 4,301,786	I110N	probably damaging	Het
Emilin2	C	G	17: 71,255,146	D954H	probably damaging	Het
Erich3	C	T	3: 154,704,949	T147I		Het
Galnt1	A	T	18: 24,271,629	H341L	probably damaging	Het
Gm14325	A	T	2: 177,831,799	C497S	probably damaging	Het
Gm4922	A	T	10: 18,783,788	N395K	probably benign	Het
Hsd17b2	G	A	8: 117,742,416	C189Y	probably damaging	Het
Kcnn1	A	T	8: 70,852,805	S254T	possibly damaging	Het
Lce1l	G	C	3: 92,850,459	P31A	unknown	Het
Lrpprc	A	G	17: 84,773,096	Y199H	probably damaging	Het
Lrrtm3	A	T	10: 64,089,708		probably null	Het
Mon2	G	T	10: 123,002,783	A1598E	probably damaging	Het
Myh3	A	T	11: 67,096,007		probably null	Het
Naa11	A	T	5: 97,391,878	D140E	probably damaging	Het
Nadk2	G	A	15: 9,103,332	R350Q	probably benign	Het
Npc1	T	C	18: 12,193,398	I1162V	probably damaging	Het
Olfr110	T	C	17: 37,499,257	I202T	probably benign	Het
Olfr1508	A	G	14: 52,463,823	M62T	probably damaging	Het
Otogl	A	T	10: 107,777,600	N2001K	possibly damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Pi4ka	A	G	16: 17,354,048		probably null	Het
Ppp2r5c	A	T	12: 110,545,825	T185S	possibly damaging	Het
Psd2	A	T	18: 35,979,713	S154C	probably damaging	Het
Rnasel	G	A	1: 153,754,988	V417M	possibly damaging	Het
Slc35g2	A	G	9: 100,552,788	S277P	probably damaging	Het
Slc36a2	A	T	11: 55,179,332	W140R	possibly damaging	Het
Slc6a12	A	G	6: 121,363,291	K512E	probably damaging	Het
Sox7	C	T	14: 63,943,826	S24L	probably benign	Het
Specc1	A	G	11: 62,132,345	K659E	probably damaging	Het
Stx18	T	A	5: 38,128,039		probably null	Het
Svs2	C	A	2: 164,238,171	G25W	probably damaging	Het
Syne1	A	G	10: 5,347,829	M1156T	probably benign	Het
Tars2	T	A	3: 95,750,959	I185F	probably benign	Het
Thsd7a	T	C	6: 12,396,613	I839V		Het
Vmn1r115	T	C	7: 20,844,894	N31S	probably damaging	Het
Vmn1r57	A	G	7: 5,221,025	D183G	probably damaging	Het
Wdr7	C	T	18: 63,735,685	T275I	probably damaging	Het
Ybx2	A	G	11: 69,940,368	E263G	probably damaging	Het
Zbtb6	G	T	2: 37,429,884	Q11K	probably benign	Het
Zfp329	A	T	7: 12,810,189	C469*	probably null	Het
Zfp868	A	T	8: 69,613,795	L40H	probably 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
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'- GCAACCTCATAAAAGCAGGG -3'
(R):5'- GCACATGTCAAACACAATTGCTTG -3'

Sequencing Primer
(F):5'- CCAGGAAGGGGGCTAACATTTG -3'
(R):5'- ACAATTGCTTGTGATAAGATTGCTGG -3'

Posted On

2020-07-28