Mutagenetix > Incidental Mutation

Incidental Mutation 'R9299:Cnot1'

704799

Institutional Source

Beutler Lab

Gene Symbol

Cnot1

Ensembl Gene

ENSMUSG00000036550

Gene Name

CCR4-NOT transcription complex, subunit 1

Synonyms

6030411K04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95719451-95807464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95741820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1460 (I1460M)

Ref Sequence

ENSEMBL: ENSMUSP00000063565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068452] [ENSMUST00000098473] [ENSMUST00000211887] [ENSMUST00000213006]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068452
AA Change: I1460M

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

SMART Domains

Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550
AA Change: I1460M

Domain	Start	End	E-Value	Type
low complexity region	181	189	N/A	INTRINSIC
low complexity region	687	698	N/A	INTRINSIC
low complexity region	779	796	N/A	INTRINSIC
PDB:4J8S\|A	798	999	1e-137	PDB
low complexity region	1011	1028	N/A	INTRINSIC
low complexity region	1031	1055	N/A	INTRINSIC
PDB:4CT4\|C	1056	1295	1e-148	PDB
low complexity region	1296	1308	N/A	INTRINSIC
low complexity region	1328	1345	N/A	INTRINSIC
Pfam:DUF3819	1381	1530	2.5e-56	PFAM
low complexity region	1634	1648	N/A	INTRINSIC
Pfam:Not1	1991	2305	2.4e-125	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098473
AA Change: I1465M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550
AA Change: I1465M

Domain	Start	End	E-Value	Type
low complexity region	181	189	N/A	INTRINSIC
Pfam:CNOT1_HEAT	500	656	2.4e-57	PFAM
low complexity region	687	698	N/A	INTRINSIC
low complexity region	779	796	N/A	INTRINSIC
Pfam:CNOT1_TTP_bind	812	1004	1.4e-87	PFAM
low complexity region	1016	1033	N/A	INTRINSIC
low complexity region	1036	1060	N/A	INTRINSIC
Pfam:CNOT1_CAF1_bind	1087	1313	5.7e-99	PFAM
low complexity region	1333	1350	N/A	INTRINSIC
Pfam:DUF3819	1387	1534	2.3e-57	PFAM
low complexity region	1639	1653	N/A	INTRINSIC
Pfam:Not1	1998	2357	5.7e-157	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211887
AA Change: I1458M

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000211973

Predicted Effect

probably benign
Transcript: ENSMUST00000212415

Predicted Effect

probably damaging
Transcript: ENSMUST00000213006
AA Change: I1465M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Mice hmozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, decreased cardiac muscle contractility, prolonged QT interval and cardiac muscle cell death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	T	9: 57,256,509 (GRCm38)	R861S	possibly damaging	Het
Abca12	T	A	1: 71,319,883 (GRCm38)	N588I	possibly damaging	Het
Adamts9	A	G	6: 92,796,995 (GRCm38)	Y1727H	probably benign	Het
Ahnak	G	A	19: 9,012,460 (GRCm38)		probably benign	Het
Alad	C	T	4: 62,511,523 (GRCm38)		probably null	Het
Anapc15-ps	C	A	10: 95,673,215 (GRCm38)	D68Y	probably damaging	Het
Arhgap45	T	C	10: 80,026,731 (GRCm38)	S645P	possibly damaging	Het
Atp9a	A	T	2: 168,712,746 (GRCm38)	M1K	probably null	Het
B020004C17Rik	A	T	14: 57,016,773 (GRCm38)	I118F	probably damaging	Het
Capn13	T	A	17: 73,326,472 (GRCm38)		probably null	Het
Ccdc7a	T	C	8: 128,889,838 (GRCm38)	Q928R	probably benign	Het
Cdc42bpa	C	A	1: 180,144,508 (GRCm38)	L1292I	probably damaging	Het
Clec2e	A	C	6: 129,095,129 (GRCm38)	F96V	probably benign	Het
Cmklr1	G	C	5: 113,613,982 (GRCm38)	H319Q	probably benign	Het
Cyc1	T	C	15: 76,344,306 (GRCm38)	V45A	probably benign	Het
Cyp4a10	A	G	4: 115,519,750 (GRCm38)	M104V	probably benign	Het
Cyth1	C	T	11: 118,169,011 (GRCm38)		probably benign	Het
Dnhd1	T	A	7: 105,720,599 (GRCm38)	N4410K	probably benign	Het
Dok4	T	A	8: 94,866,841 (GRCm38)	T106S	probably benign	Het
Dph1	T	A	11: 75,179,796 (GRCm38)	Q339L	possibly damaging	Het
Dpy19l3	G	T	7: 35,725,327 (GRCm38)	S187*	probably null	Het
Eva1a	G	T	6: 82,092,066 (GRCm38)	A125S	probably damaging	Het
Fam24b	T	A	7: 131,326,220 (GRCm38)	Y80F	probably benign	Het
Frem2	T	C	3: 53,656,559 (GRCm38)	T176A	probably benign	Het
Gal3st3	A	T	19: 5,306,840 (GRCm38)	N81I	probably damaging	Het
Gm12888	G	A	4: 121,324,847 (GRCm38)	S16F	unknown	Het
Gm17018	C	A	19: 45,577,570 (GRCm38)	Q203K	probably damaging	Het
Hsf5	T	A	11: 87,635,944 (GRCm38)	C481S	probably benign	Het
Ifi211	T	A	1: 173,907,722 (GRCm38)	Q47L	probably damaging	Het
Il17re	A	T	6: 113,464,010 (GRCm38)	M202L	probably benign	Het
Krtap5-3	T	A	7: 142,202,530 (GRCm38)	H175Q	unknown	Het
Ksr2	G	A	5: 117,747,334 (GRCm38)		probably null	Het
Lrtm1	C	T	14: 29,021,757 (GRCm38)	P61S	probably damaging	Het
Ltk	A	T	2: 119,754,240 (GRCm38)	S487R	possibly damaging	Het
Mis18bp1	A	T	12: 65,138,764 (GRCm38)	D876E	possibly damaging	Het
Nalf1	T	C	8: 9,770,156 (GRCm38)	Y288C	probably damaging	Het
Or8b39	A	G	9: 38,085,489 (GRCm38)	T218A	probably benign	Het
Paqr7	A	G	4: 134,507,000 (GRCm38)	N56S	probably benign	Het
Pcdhb22	G	T	18: 37,518,832 (GRCm38)	E118*	probably null	Het
Pcdhb4	G	A	18: 37,309,211 (GRCm38)	A525T	probably benign	Het
Pik3cb	A	G	9: 99,061,791 (GRCm38)	F653S	probably damaging	Het
Pla2g4e	T	A	2: 120,171,723 (GRCm38)	D617V	probably damaging	Het
Plekha1	T	A	7: 130,909,618 (GRCm38)	C311S	possibly damaging	Het
Poteg	A	G	8: 27,450,259 (GRCm38)	Y156C	probably benign	Het
Rev3l	T	C	10: 39,848,003 (GRCm38)	S2644P	probably damaging	Het
Rnf40	T	A	7: 127,589,000 (GRCm38)	S2T	probably benign	Het
Rrp8	T	C	7: 105,734,177 (GRCm38)	D294G	probably damaging	Het
Slc6a21	T	C	7: 45,287,706 (GRCm38)	V252A		Het
Slx9	C	A	10: 77,515,701 (GRCm38)	A14S	possibly damaging	Het
Socs1	T	C	16: 10,784,714 (GRCm38)	D53G	possibly damaging	Het
St6galnac6	G	T	2: 32,612,333 (GRCm38)	R78L	probably benign	Het
Tbce	T	C	13: 14,019,813 (GRCm38)	K87R	probably benign	Het
Tep1	T	C	14: 50,844,531 (GRCm38)		probably benign	Het
Thada	T	C	17: 84,441,777 (GRCm38)	M589V	probably benign	Het
Thsd7a	A	G	6: 12,504,132 (GRCm38)	F341S		Het
Tmem82	A	T	4: 141,616,550 (GRCm38)	C136*	probably null	Het
Tmprss11a	A	T	5: 86,422,502 (GRCm38)	C199*	probably null	Het
Zbtb48	T	C	4: 152,020,690 (GRCm38)	N505S	possibly damaging	Het
Zfp385b	A	T	2: 77,415,771 (GRCm38)	V304E	probably damaging	Het

Other mutations in Cnot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cnot1	APN	8	95,726,079 (GRCm38)	missense	probably damaging	1.00
IGL01340:Cnot1	APN	8	95,760,537 (GRCm38)	missense	probably damaging	1.00
IGL01457:Cnot1	APN	8	95,741,009 (GRCm38)	missense	probably damaging	1.00
IGL01505:Cnot1	APN	8	95,728,718 (GRCm38)	missense	probably damaging	0.98
IGL02401:Cnot1	APN	8	95,756,133 (GRCm38)	missense	possibly damaging	0.95
IGL02693:Cnot1	APN	8	95,773,485 (GRCm38)	missense	probably damaging	1.00
IGL02696:Cnot1	APN	8	95,745,017 (GRCm38)	missense	probably benign	0.00
IGL02754:Cnot1	APN	8	95,755,078 (GRCm38)	missense	probably benign	0.03
IGL03092:Cnot1	APN	8	95,769,615 (GRCm38)	intron	probably benign
IGL03174:Cnot1	APN	8	95,761,355 (GRCm38)	missense	probably damaging	1.00
IGL03310:Cnot1	APN	8	95,735,680 (GRCm38)	splice site	probably benign
IGL03371:Cnot1	APN	8	95,774,716 (GRCm38)	missense	possibly damaging	0.85
Affiliate	UTSW	8	95,765,125 (GRCm38)	missense	probably damaging	0.99
Barge	UTSW	8	95,734,129 (GRCm38)	missense	probably benign	0.13
Byproduct	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
Chairman	UTSW	8	95,765,027 (GRCm38)	missense	possibly damaging	0.95
cohort	UTSW	8	95,735,749 (GRCm38)	missense	probably damaging	0.99
Director	UTSW	8	95,765,062 (GRCm38)	missense	probably benign	0.15
kowloon	UTSW	8	95,788,658 (GRCm38)	missense	probably damaging	1.00
Quorum	UTSW	8	95,726,118 (GRCm38)	missense	probably damaging	1.00
tugboat	UTSW	8	95,773,618 (GRCm38)	missense	probably damaging	0.99
Xiao	UTSW	8	95,730,420 (GRCm38)	missense	probably damaging	1.00
BB001:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
BB003:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
BB011:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
BB013:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
R0008:Cnot1	UTSW	8	95,761,341 (GRCm38)	missense	probably damaging	1.00
R0008:Cnot1	UTSW	8	95,761,341 (GRCm38)	missense	probably damaging	1.00
R0091:Cnot1	UTSW	8	95,763,144 (GRCm38)	missense	probably damaging	1.00
R0335:Cnot1	UTSW	8	95,772,000 (GRCm38)	missense	probably benign	0.02
R0409:Cnot1	UTSW	8	95,748,855 (GRCm38)	missense	probably damaging	0.96
R0445:Cnot1	UTSW	8	95,760,208 (GRCm38)	missense	probably damaging	1.00
R1505:Cnot1	UTSW	8	95,728,667 (GRCm38)	missense	probably damaging	1.00
R1517:Cnot1	UTSW	8	95,743,213 (GRCm38)	missense	probably benign	0.38
R1640:Cnot1	UTSW	8	95,769,832 (GRCm38)	missense	probably damaging	0.98
R1737:Cnot1	UTSW	8	95,748,276 (GRCm38)	missense	probably damaging	0.98
R1755:Cnot1	UTSW	8	95,724,577 (GRCm38)	missense	probably damaging	1.00
R1901:Cnot1	UTSW	8	95,743,121 (GRCm38)	missense	possibly damaging	0.50
R1902:Cnot1	UTSW	8	95,743,121 (GRCm38)	missense	possibly damaging	0.50
R1903:Cnot1	UTSW	8	95,743,121 (GRCm38)	missense	possibly damaging	0.50
R1988:Cnot1	UTSW	8	95,741,944 (GRCm38)	missense	possibly damaging	0.89
R2051:Cnot1	UTSW	8	95,724,593 (GRCm38)	missense	possibly damaging	0.47
R2054:Cnot1	UTSW	8	95,739,841 (GRCm38)	missense	possibly damaging	0.55
R2072:Cnot1	UTSW	8	95,739,833 (GRCm38)	missense	possibly damaging	0.89
R2074:Cnot1	UTSW	8	95,739,833 (GRCm38)	missense	possibly damaging	0.89
R2075:Cnot1	UTSW	8	95,739,833 (GRCm38)	missense	possibly damaging	0.89
R2093:Cnot1	UTSW	8	95,775,358 (GRCm38)	missense	probably damaging	1.00
R2116:Cnot1	UTSW	8	95,726,153 (GRCm38)	missense	probably damaging	1.00
R2191:Cnot1	UTSW	8	95,761,426 (GRCm38)	missense	probably damaging	0.98
R2238:Cnot1	UTSW	8	95,769,521 (GRCm38)	missense	probably benign	0.04
R2239:Cnot1	UTSW	8	95,769,521 (GRCm38)	missense	probably benign	0.04
R2251:Cnot1	UTSW	8	95,763,186 (GRCm38)	missense	probably benign	0.00
R2252:Cnot1	UTSW	8	95,763,186 (GRCm38)	missense	probably benign	0.00
R2253:Cnot1	UTSW	8	95,763,186 (GRCm38)	missense	probably benign	0.00
R2315:Cnot1	UTSW	8	95,749,062 (GRCm38)	missense	probably damaging	1.00
R2431:Cnot1	UTSW	8	95,774,652 (GRCm38)	missense	probably damaging	1.00
R2988:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R2989:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R3108:Cnot1	UTSW	8	95,735,749 (GRCm38)	missense	probably damaging	0.99
R3109:Cnot1	UTSW	8	95,735,749 (GRCm38)	missense	probably damaging	0.99
R3114:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R3115:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R3153:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R3154:Cnot1	UTSW	8	95,744,278 (GRCm38)	missense	possibly damaging	0.80
R4112:Cnot1	UTSW	8	95,773,618 (GRCm38)	missense	probably damaging	0.99
R4359:Cnot1	UTSW	8	95,739,848 (GRCm38)	missense	probably damaging	1.00
R4382:Cnot1	UTSW	8	95,769,779 (GRCm38)	missense	probably damaging	0.97
R4747:Cnot1	UTSW	8	95,774,682 (GRCm38)	missense	probably benign	0.27
R4910:Cnot1	UTSW	8	95,733,231 (GRCm38)	missense	probably benign	0.43
R4913:Cnot1	UTSW	8	95,763,067 (GRCm38)	missense	possibly damaging	0.63
R4971:Cnot1	UTSW	8	95,721,626 (GRCm38)	missense	probably damaging	1.00
R5056:Cnot1	UTSW	8	95,741,008 (GRCm38)	missense	probably damaging	1.00
R5092:Cnot1	UTSW	8	95,752,768 (GRCm38)	missense	possibly damaging	0.91
R5101:Cnot1	UTSW	8	95,760,187 (GRCm38)	missense	possibly damaging	0.90
R5498:Cnot1	UTSW	8	95,757,355 (GRCm38)	missense	possibly damaging	0.92
R5719:Cnot1	UTSW	8	95,744,296 (GRCm38)	missense	possibly damaging	0.92
R5850:Cnot1	UTSW	8	95,734,147 (GRCm38)	nonsense	probably null
R5956:Cnot1	UTSW	8	95,754,978 (GRCm38)	critical splice donor site	probably null
R5981:Cnot1	UTSW	8	95,788,665 (GRCm38)	missense	probably damaging	1.00
R6093:Cnot1	UTSW	8	95,748,894 (GRCm38)	missense	probably benign	0.03
R6108:Cnot1	UTSW	8	95,730,420 (GRCm38)	missense	probably damaging	1.00
R6261:Cnot1	UTSW	8	95,741,921 (GRCm38)	missense	probably benign	0.00
R6632:Cnot1	UTSW	8	95,773,267 (GRCm38)	intron	probably benign
R6882:Cnot1	UTSW	8	95,720,426 (GRCm38)	missense	possibly damaging	0.85
R6966:Cnot1	UTSW	8	95,724,532 (GRCm38)	missense	probably damaging	1.00
R6985:Cnot1	UTSW	8	95,734,129 (GRCm38)	missense	probably benign	0.13
R7210:Cnot1	UTSW	8	95,788,658 (GRCm38)	missense	probably damaging	1.00
R7410:Cnot1	UTSW	8	95,733,159 (GRCm38)	missense	possibly damaging	0.77
R7623:Cnot1	UTSW	8	95,727,648 (GRCm38)	missense	probably damaging	1.00
R7624:Cnot1	UTSW	8	95,751,819 (GRCm38)	missense	probably damaging	1.00
R7695:Cnot1	UTSW	8	95,770,632 (GRCm38)	missense	probably benign	0.03
R7703:Cnot1	UTSW	8	95,760,098 (GRCm38)	critical splice donor site	probably null
R7771:Cnot1	UTSW	8	95,765,125 (GRCm38)	missense	probably damaging	0.99
R7800:Cnot1	UTSW	8	95,765,062 (GRCm38)	missense	probably benign	0.15
R7809:Cnot1	UTSW	8	95,751,778 (GRCm38)	missense	probably damaging	1.00
R7857:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
R7914:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
R7924:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
R7926:Cnot1	UTSW	8	95,745,647 (GRCm38)	frame shift	probably null
R7981:Cnot1	UTSW	8	95,763,169 (GRCm38)	missense	probably damaging	1.00
R8004:Cnot1	UTSW	8	95,752,752 (GRCm38)	missense	probably benign	0.03
R8061:Cnot1	UTSW	8	95,765,027 (GRCm38)	missense	possibly damaging	0.95
R8185:Cnot1	UTSW	8	95,761,351 (GRCm38)	missense	probably damaging	1.00
R8269:Cnot1	UTSW	8	95,751,761 (GRCm38)	missense	probably damaging	1.00
R8306:Cnot1	UTSW	8	95,747,021 (GRCm38)	missense	probably benign	0.05
R8322:Cnot1	UTSW	8	95,769,844 (GRCm38)	missense	probably benign	0.00
R8427:Cnot1	UTSW	8	95,734,324 (GRCm38)	missense	probably benign	0.01
R8723:Cnot1	UTSW	8	95,736,279 (GRCm38)	missense	probably benign	0.00
R8934:Cnot1	UTSW	8	95,765,067 (GRCm38)	missense	probably benign	0.04
R9025:Cnot1	UTSW	8	95,749,032 (GRCm38)	missense	probably benign
R9179:Cnot1	UTSW	8	95,773,426 (GRCm38)	missense	probably benign	0.16
R9280:Cnot1	UTSW	8	95,770,599 (GRCm38)	missense	probably benign	0.15
R9285:Cnot1	UTSW	8	95,726,118 (GRCm38)	missense	probably damaging	1.00
R9337:Cnot1	UTSW	8	95,741,820 (GRCm38)	missense	probably damaging	1.00
R9480:Cnot1	UTSW	8	95,770,710 (GRCm38)	missense	possibly damaging	0.94
R9548:Cnot1	UTSW	8	95,756,226 (GRCm38)	missense	probably benign	0.02
R9601:Cnot1	UTSW	8	95,756,207 (GRCm38)	missense	probably benign	0.02
R9629:Cnot1	UTSW	8	95,729,246 (GRCm38)	missense	probably damaging	0.98
R9752:Cnot1	UTSW	8	95,761,391 (GRCm38)	missense	probably damaging	1.00
R9764:Cnot1	UTSW	8	95,769,581 (GRCm38)	missense	probably benign	0.00
R9789:Cnot1	UTSW	8	95,729,144 (GRCm38)	missense	probably damaging	1.00
X0050:Cnot1	UTSW	8	95,743,098 (GRCm38)	splice site	probably null
Z1176:Cnot1	UTSW	8	95,748,277 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TTCAGTGCTAAGGAGTTTGCC -3'
(R):5'- TGGATCGCTCAATTAAGATTGC -3'

Sequencing Primer
(F):5'- CAGTGCTAAGGAGTTTGCCCTAAC -3'
(R):5'- TGCTATGACTACGTGCGAAC -3'

Posted On

2022-03-25