Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Cnot10'

575161

Institutional Source

Beutler Lab

Gene Symbol

Cnot10

Ensembl Gene

ENSMUSG00000056167

Gene Name

CCR4-NOT transcription complex, subunit 10

Synonyms

MMRRC Submission

045493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7412 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114585878-114640184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114625903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 221 (Y221H)

Ref Sequence

ENSEMBL: ENSMUSP00000064840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070117] [ENSMUST00000213955] [ENSMUST00000215155] [ENSMUST00000216785] [ENSMUST00000217148]

AlphaFold

Q8BH15

Predicted Effect

probably damaging
Transcript: ENSMUST00000070117
AA Change: Y221H

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

SMART Domains

Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: Y221H

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 benign
Transcript: ENSMUST00000213955

Predicted Effect

probably damaging
Transcript: ENSMUST00000215155
AA Change: Y221H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216785
AA Change: Y221H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217148
AA Change: Y221H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,829 (GRCm38)	Y335*	probably null	Het
Alpk1	A	T	3: 127,672,494 (GRCm38)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,695,733 (GRCm38)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,626,136 (GRCm38)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,523,052 (GRCm38)	D1152N	probably benign	Het
Arvcf	A	G	16: 18,401,600 (GRCm38)	D642G	probably benign	Het
Astn1	T	G	1: 158,502,349 (GRCm38)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,902,010 (GRCm38)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,098,810 (GRCm38)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,759,018 (GRCm38)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,614,931 (GRCm38)	V84I	probably benign	Het
Col6a3	T	A	1: 90,828,133 (GRCm38)	I145F	probably damaging	Het
Crybg2	A	G	4: 134,074,123 (GRCm38)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,629,844 (GRCm38)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,261,720 (GRCm38)	T462I	probably damaging	Het
Dhx30	T	C	9: 110,092,898 (GRCm38)	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611 (GRCm38)		probably benign	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,620,239 (GRCm38)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,986,425 (GRCm38)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,619,623 (GRCm38)	C293F	possibly damaging	Het
Fech	A	T	18: 64,458,184 (GRCm38)	S390T	probably benign	Het
Fras1	A	G	5: 96,614,889 (GRCm38)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,571,969 (GRCm38)	D1364G	probably benign	Het
Ganab	T	C	19: 8,912,528 (GRCm38)	I652T	probably benign	Het
Gm21103	T	A	14: 6,301,955 (GRCm38)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,089,752 (GRCm38)		probably benign	Het
Gm5799	A	G	14: 43,544,538 (GRCm38)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,185,487 (GRCm38)	R184G	unknown	Het
Gmip	T	G	8: 69,820,499 (GRCm38)	D845E	probably benign	Het
Hspa9	T	C	18: 34,949,029 (GRCm38)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,894,871 (GRCm38)	F890L	probably benign	Het
Irag1	A	T	7: 110,923,756 (GRCm38)	V160D	probably benign	Het
Klrb1f	C	T	6: 129,056,345 (GRCm38)	R179*	probably null	Het
Nasp	A	G	4: 116,610,588 (GRCm38)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,722,851 (GRCm38)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,960,533 (GRCm38)	M1R	probably null	Het
Nf1	G	A	11: 79,473,414 (GRCm38)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,142,250 (GRCm38)	Q361*	probably null	Het
Opn1sw	A	T	6: 29,379,857 (GRCm38)	L126Q	probably damaging	Het
Or10ak16	A	T	4: 118,893,130 (GRCm38)	I16F	possibly damaging	Het
Or1af1	C	T	2: 37,219,762 (GRCm38)	T91I	possibly damaging	Het
Or1j4	T	C	2: 36,850,466 (GRCm38)	L140P	probably benign	Het
Or5au1	A	T	14: 52,035,853 (GRCm38)	L86*	probably null	Het
Or7g17	A	T	9: 18,856,789 (GRCm38)	I46F	possibly damaging	Het
Or8g50	T	C	9: 39,737,126 (GRCm38)	F104L	probably benign	Het
Osmr	A	G	15: 6,823,567 (GRCm38)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 127,016,564 (GRCm38)	T120A	probably benign	Het
Patj	A	G	4: 98,411,139 (GRCm38)	E166G	probably damaging	Het
Plk4	G	A	3: 40,812,178 (GRCm38)	V764I	probably benign	Het
Polr3h	G	A	15: 81,916,401 (GRCm38)		probably null	Het
Ptprb	T	A	10: 116,341,138 (GRCm38)	D989E	probably benign	Het
Sdk2	A	T	11: 113,868,083 (GRCm38)		probably null	Het
Setd1b	C	A	5: 123,152,576 (GRCm38)	R869S	unknown	Het
Sgcz	T	C	8: 37,523,411 (GRCm38)	I263V	probably benign	Het
Skint8	G	A	4: 111,928,561 (GRCm38)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,434,627 (GRCm38)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,249,089 (GRCm38)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,214,647 (GRCm38)		probably null	Het
Sptlc3	A	G	2: 139,589,617 (GRCm38)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,450,108 (GRCm38)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,261,648 (GRCm38)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,803,229 (GRCm38)	L110P	probably damaging	Het
Tex9	A	T	9: 72,486,778 (GRCm38)		probably null	Het
Tmem17	A	T	11: 22,518,645 (GRCm38)	T195S	probably benign	Het
Trcg1	T	A	9: 57,241,483 (GRCm38)	S113T	probably benign	Het
Trpa1	A	T	1: 14,884,198 (GRCm38)	F826I	probably benign	Het
Usp17lc	A	G	7: 103,418,368 (GRCm38)	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,474,213 (GRCm38)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 33,149,584 (GRCm38)	L290P		Het
Xpnpep1	G	C	19: 53,006,291 (GRCm38)	A302G	probably benign	Het
Xrn2	T	C	2: 147,049,346 (GRCm38)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,563,071 (GRCm38)	S649G	probably benign	Het
Zscan4b	T	C	7: 10,901,893 (GRCm38)	D169G	probably benign	Het
Zscan4b	C	T	7: 10,900,864 (GRCm38)	C484Y	probably damaging	Het

Other mutations in Cnot10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Cnot10	APN	9	114,631,855 (GRCm38)	missense	probably benign	0.19
IGL02004:Cnot10	APN	9	114,622,930 (GRCm38)	missense	probably damaging	1.00
IGL03297:Cnot10	APN	9	114,598,716 (GRCm38)	missense	possibly damaging	0.87
BB003:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
BB013:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
R0348:Cnot10	UTSW	9	114,598,770 (GRCm38)	missense	probably benign	0.10
R0390:Cnot10	UTSW	9	114,629,150 (GRCm38)	nonsense	probably null
R1256:Cnot10	UTSW	9	114,610,681 (GRCm38)	missense	probably damaging	1.00
R1471:Cnot10	UTSW	9	114,591,551 (GRCm38)	missense	probably benign	0.00
R1607:Cnot10	UTSW	9	114,629,095 (GRCm38)	nonsense	probably null
R1721:Cnot10	UTSW	9	114,614,999 (GRCm38)	missense	probably benign
R1741:Cnot10	UTSW	9	114,597,824 (GRCm38)	missense	possibly damaging	0.87
R2116:Cnot10	UTSW	9	114,626,436 (GRCm38)	missense	probably damaging	1.00
R4073:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4074:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4075:Cnot10	UTSW	9	114,622,947 (GRCm38)	missense	possibly damaging	0.91
R4365:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4383:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4385:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4398:Cnot10	UTSW	9	114,631,881 (GRCm38)	nonsense	probably null
R4423:Cnot10	UTSW	9	114,617,920 (GRCm38)	missense	probably damaging	1.00
R4859:Cnot10	UTSW	9	114,627,464 (GRCm38)	missense	probably damaging	1.00
R4916:Cnot10	UTSW	9	114,629,134 (GRCm38)	missense	possibly damaging	0.72
R4927:Cnot10	UTSW	9	114,617,944 (GRCm38)	missense	probably damaging	1.00
R5153:Cnot10	UTSW	9	114,613,735 (GRCm38)	missense	probably damaging	1.00
R5677:Cnot10	UTSW	9	114,629,093 (GRCm38)	missense	probably damaging	1.00
R5702:Cnot10	UTSW	9	114,629,010 (GRCm38)	missense	probably damaging	0.98
R5790:Cnot10	UTSW	9	114,625,917 (GRCm38)	splice site	probably null
R6190:Cnot10	UTSW	9	114,632,723 (GRCm38)	missense	probably damaging	1.00
R6353:Cnot10	UTSW	9	114,597,546 (GRCm38)	missense	probably damaging	1.00
R6463:Cnot10	UTSW	9	114,625,902 (GRCm38)	missense	probably damaging	1.00
R6819:Cnot10	UTSW	9	114,615,055 (GRCm38)	missense	probably benign	0.10
R6849:Cnot10	UTSW	9	114,631,936 (GRCm38)	missense	probably benign	0.01
R6875:Cnot10	UTSW	9	114,615,107 (GRCm38)	missense	probably benign	0.00
R7071:Cnot10	UTSW	9	114,617,719 (GRCm38)	splice site	probably null
R7408:Cnot10	UTSW	9	114,631,826 (GRCm38)	missense	probably benign	0.33
R7645:Cnot10	UTSW	9	114,613,637 (GRCm38)	missense	probably benign
R7706:Cnot10	UTSW	9	114,593,438 (GRCm38)	missense	probably damaging	0.98
R7926:Cnot10	UTSW	9	114,617,815 (GRCm38)	missense	probably damaging	1.00
R8187:Cnot10	UTSW	9	114,597,488 (GRCm38)	nonsense	probably null
R8322:Cnot10	UTSW	9	114,627,469 (GRCm38)	missense	probably damaging	0.99
R8412:Cnot10	UTSW	9	114,610,670 (GRCm38)	missense	probably benign	0.11
R8904:Cnot10	UTSW	9	114,601,355 (GRCm38)	missense	probably benign	0.06
R9340:Cnot10	UTSW	9	114,631,829 (GRCm38)	missense	probably benign	0.01
R9691:Cnot10	UTSW	9	114,591,647 (GRCm38)	missense	probably damaging	1.00
X0062:Cnot10	UTSW	9	114,615,134 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTTTGCGAACTGACAAATC -3'
(R):5'- AGAACTTTGAAGTAGCCTGTAGTG -3'

Sequencing Primer
(F):5'- TTTGCGAACTGACAAATCCTCACAG -3'
(R):5'- GGCCTGCAATACATGAAGCCTTAG -3'

Posted On

2019-10-07