Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Cnot10'

590486

Institutional Source

Beutler Lab

Gene Symbol

Cnot10

Ensembl Gene

ENSMUSG00000056167

Gene Name

CCR4-NOT transcription complex, subunit 10

Synonyms

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114585878-114640184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114613637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 501 (S501G)

Ref Sequence

ENSEMBL: ENSMUSP00000064840 (fasta)

Gene Model

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

AlphaFold

Q8BH15

Predicted Effect

probably benign
Transcript: ENSMUST00000070117
AA Change: S501G

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

SMART Domains

Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: S501G

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: ENSMUST00000215155

Predicted Effect

probably benign
Transcript: ENSMUST00000216785

Predicted Effect

probably benign
Transcript: ENSMUST00000217148

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Cnot10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Cnot10	APN	9	114631855	missense	probably benign	0.19
IGL02004:Cnot10	APN	9	114622930	missense	probably damaging	1.00
IGL03297:Cnot10	APN	9	114598716	missense	possibly damaging	0.87
BB003:Cnot10	UTSW	9	114617815	missense	probably damaging	1.00
BB013:Cnot10	UTSW	9	114617815	missense	probably damaging	1.00
R0348:Cnot10	UTSW	9	114598770	missense	probably benign	0.10
R0390:Cnot10	UTSW	9	114629150	nonsense	probably null
R1256:Cnot10	UTSW	9	114610681	missense	probably damaging	1.00
R1471:Cnot10	UTSW	9	114591551	missense	probably benign	0.00
R1607:Cnot10	UTSW	9	114629095	nonsense	probably null
R1721:Cnot10	UTSW	9	114614999	missense	probably benign
R1741:Cnot10	UTSW	9	114597824	missense	possibly damaging	0.87
R2116:Cnot10	UTSW	9	114626436	missense	probably damaging	1.00
R4073:Cnot10	UTSW	9	114622947	missense	possibly damaging	0.91
R4074:Cnot10	UTSW	9	114622947	missense	possibly damaging	0.91
R4075:Cnot10	UTSW	9	114622947	missense	possibly damaging	0.91
R4365:Cnot10	UTSW	9	114631881	nonsense	probably null
R4383:Cnot10	UTSW	9	114631881	nonsense	probably null
R4385:Cnot10	UTSW	9	114631881	nonsense	probably null
R4398:Cnot10	UTSW	9	114631881	nonsense	probably null
R4423:Cnot10	UTSW	9	114617920	missense	probably damaging	1.00
R4859:Cnot10	UTSW	9	114627464	missense	probably damaging	1.00
R4916:Cnot10	UTSW	9	114629134	missense	possibly damaging	0.72
R4927:Cnot10	UTSW	9	114617944	missense	probably damaging	1.00
R5153:Cnot10	UTSW	9	114613735	missense	probably damaging	1.00
R5677:Cnot10	UTSW	9	114629093	missense	probably damaging	1.00
R5702:Cnot10	UTSW	9	114629010	missense	probably damaging	0.98
R5790:Cnot10	UTSW	9	114625917	splice site	probably null
R6190:Cnot10	UTSW	9	114632723	missense	probably damaging	1.00
R6353:Cnot10	UTSW	9	114597546	missense	probably damaging	1.00
R6463:Cnot10	UTSW	9	114625902	missense	probably damaging	1.00
R6819:Cnot10	UTSW	9	114615055	missense	probably benign	0.10
R6849:Cnot10	UTSW	9	114631936	missense	probably benign	0.01
R6875:Cnot10	UTSW	9	114615107	missense	probably benign	0.00
R7071:Cnot10	UTSW	9	114617719	splice site	probably null
R7408:Cnot10	UTSW	9	114631826	missense	probably benign	0.33
R7412:Cnot10	UTSW	9	114625903	missense	probably damaging	1.00
R7706:Cnot10	UTSW	9	114593438	missense	probably damaging	0.98
R7926:Cnot10	UTSW	9	114617815	missense	probably damaging	1.00
R8187:Cnot10	UTSW	9	114597488	nonsense	probably null
R8322:Cnot10	UTSW	9	114627469	missense	probably damaging	0.99
R8412:Cnot10	UTSW	9	114610670	missense	probably benign	0.11
R8904:Cnot10	UTSW	9	114601355	missense	probably benign	0.06
R9340:Cnot10	UTSW	9	114631829	missense	probably benign	0.01
R9691:Cnot10	UTSW	9	114591647	missense	probably damaging	1.00
X0062:Cnot10	UTSW	9	114615134	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCGATCAAGACCTTGCC -3'
(R):5'- CTTTGAAGTGATGGTCAGTCTTCAG -3'

Sequencing Primer
(F):5'- TTGAGTAAGAATGGCCCCCTTAGAC -3'
(R):5'- AGCCATTCCTGTAGCCAGTGTG -3'

Posted On

2019-10-24