Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Cnot10'

380915

Institutional Source

Beutler Lab

Gene Symbol

Cnot10

Ensembl Gene

ENSMUSG00000056167

Gene Name

CCR4-NOT transcription complex, subunit 10

Synonyms

2600001P13Rik

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114414946-114469252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114447012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 355 (Y355N)

Ref Sequence

ENSEMBL: ENSMUSP00000064840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070117] [ENSMUST00000215155] [ENSMUST00000216785] [ENSMUST00000217148]

AlphaFold

Q8BH15

Predicted Effect

probably damaging
Transcript: ENSMUST00000070117
AA Change: Y355N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: Y355N

Domain	Start	End	E-Value	Type
Blast:TPR	27	60	2e-10	BLAST
coiled coil region	73	107	N/A	INTRINSIC
TPR	110	143	4.32e1	SMART
low complexity region	182	198	N/A	INTRINSIC
TPR	293	326	3.37e-2	SMART
TPR	355	388	6.75e1	SMART
low complexity region	496	508	N/A	INTRINSIC
TPR	643	676	7.87e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000215155
AA Change: Y355N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216785
AA Change: Y355N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000217148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217296

Meta Mutation Damage Score

0.7457

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably damaging	Het

Other mutations in Cnot10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Cnot10	APN	9	114,460,923 (GRCm39)	missense	probably benign	0.19
IGL02004:Cnot10	APN	9	114,451,998 (GRCm39)	missense	probably damaging	1.00
IGL03297:Cnot10	APN	9	114,427,784 (GRCm39)	missense	possibly damaging	0.87
BB003:Cnot10	UTSW	9	114,446,883 (GRCm39)	missense	probably damaging	1.00
BB013:Cnot10	UTSW	9	114,446,883 (GRCm39)	missense	probably damaging	1.00
R0348:Cnot10	UTSW	9	114,427,838 (GRCm39)	missense	probably benign	0.10
R0390:Cnot10	UTSW	9	114,458,218 (GRCm39)	nonsense	probably null
R1256:Cnot10	UTSW	9	114,439,749 (GRCm39)	missense	probably damaging	1.00
R1471:Cnot10	UTSW	9	114,420,619 (GRCm39)	missense	probably benign	0.00
R1607:Cnot10	UTSW	9	114,458,163 (GRCm39)	nonsense	probably null
R1721:Cnot10	UTSW	9	114,444,067 (GRCm39)	missense	probably benign
R1741:Cnot10	UTSW	9	114,426,892 (GRCm39)	missense	possibly damaging	0.87
R2116:Cnot10	UTSW	9	114,455,504 (GRCm39)	missense	probably damaging	1.00
R4073:Cnot10	UTSW	9	114,452,015 (GRCm39)	missense	possibly damaging	0.91
R4074:Cnot10	UTSW	9	114,452,015 (GRCm39)	missense	possibly damaging	0.91
R4075:Cnot10	UTSW	9	114,452,015 (GRCm39)	missense	possibly damaging	0.91
R4365:Cnot10	UTSW	9	114,460,949 (GRCm39)	nonsense	probably null
R4383:Cnot10	UTSW	9	114,460,949 (GRCm39)	nonsense	probably null
R4385:Cnot10	UTSW	9	114,460,949 (GRCm39)	nonsense	probably null
R4398:Cnot10	UTSW	9	114,460,949 (GRCm39)	nonsense	probably null
R4423:Cnot10	UTSW	9	114,446,988 (GRCm39)	missense	probably damaging	1.00
R4859:Cnot10	UTSW	9	114,456,532 (GRCm39)	missense	probably damaging	1.00
R4916:Cnot10	UTSW	9	114,458,202 (GRCm39)	missense	possibly damaging	0.72
R5153:Cnot10	UTSW	9	114,442,803 (GRCm39)	missense	probably damaging	1.00
R5677:Cnot10	UTSW	9	114,458,161 (GRCm39)	missense	probably damaging	1.00
R5702:Cnot10	UTSW	9	114,458,078 (GRCm39)	missense	probably damaging	0.98
R5790:Cnot10	UTSW	9	114,454,985 (GRCm39)	splice site	probably null
R6190:Cnot10	UTSW	9	114,461,791 (GRCm39)	missense	probably damaging	1.00
R6353:Cnot10	UTSW	9	114,426,614 (GRCm39)	missense	probably damaging	1.00
R6463:Cnot10	UTSW	9	114,454,970 (GRCm39)	missense	probably damaging	1.00
R6819:Cnot10	UTSW	9	114,444,123 (GRCm39)	missense	probably benign	0.10
R6849:Cnot10	UTSW	9	114,461,004 (GRCm39)	missense	probably benign	0.01
R6875:Cnot10	UTSW	9	114,444,175 (GRCm39)	missense	probably benign	0.00
R7071:Cnot10	UTSW	9	114,446,787 (GRCm39)	splice site	probably null
R7408:Cnot10	UTSW	9	114,460,894 (GRCm39)	missense	probably benign	0.33
R7412:Cnot10	UTSW	9	114,454,971 (GRCm39)	missense	probably damaging	1.00
R7645:Cnot10	UTSW	9	114,442,705 (GRCm39)	missense	probably benign
R7706:Cnot10	UTSW	9	114,422,506 (GRCm39)	missense	probably damaging	0.98
R7926:Cnot10	UTSW	9	114,446,883 (GRCm39)	missense	probably damaging	1.00
R8187:Cnot10	UTSW	9	114,426,556 (GRCm39)	nonsense	probably null
R8322:Cnot10	UTSW	9	114,456,537 (GRCm39)	missense	probably damaging	0.99
R8412:Cnot10	UTSW	9	114,439,738 (GRCm39)	missense	probably benign	0.11
R8904:Cnot10	UTSW	9	114,430,423 (GRCm39)	missense	probably benign	0.06
R9340:Cnot10	UTSW	9	114,460,897 (GRCm39)	missense	probably benign	0.01
R9691:Cnot10	UTSW	9	114,420,715 (GRCm39)	missense	probably damaging	1.00
X0062:Cnot10	UTSW	9	114,444,202 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTTCCATGTACCAAGTGTAG -3'
(R):5'- AGTGTCAAGTACTTGGGGAGC -3'

Sequencing Primer
(F):5'- TTTCCATGTACCAAGTGTAGAAGAGG -3'
(R):5'- TCAAGTACTTGGGGAGCTAGGC -3'

Posted On

2016-04-15