Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:Cnot11'

454890

Institutional Source

Beutler Lab

Gene Symbol

Cnot11

Ensembl Gene

ENSMUSG00000003135

Gene Name

CCR4-NOT transcription complex, subunit 11

Synonyms

2410015L18Rik, D1Bwg0212e

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39534992-39546889 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39537453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 179 (F179L)

Ref Sequence

ENSEMBL: ENSMUSP00000125638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003219] [ENSMUST00000161515] [ENSMUST00000195567]

AlphaFold

Q9CWN7

Predicted Effect

probably benign
Transcript: ENSMUST00000003219
AA Change: F179L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003219
Gene: ENSMUSG00000003135
AA Change: F179L

Domain	Start	End	E-Value	Type
low complexity region	25	55	N/A	INTRINSIC
low complexity region	62	73	N/A	INTRINSIC
low complexity region	234	257	N/A	INTRINSIC
Pfam:DUF2363	366	490	1.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160145

Predicted Effect

probably benign
Transcript: ENSMUST00000161515
AA Change: F179L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125638
Gene: ENSMUSG00000003135
AA Change: F179L

Domain	Start	End	E-Value	Type
low complexity region	25	55	N/A	INTRINSIC
low complexity region	62	73	N/A	INTRINSIC
low complexity region	234	257	N/A	INTRINSIC
Pfam:DUF2363	366	491	3.3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195567

SMART Domains

Protein: ENSMUSP00000141388
Gene: ENSMUSG00000003135

Domain	Start	End	E-Value	Type
Pfam:DUF2363	40	148	3.4e-44	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Adgrf5	A	G	17: 43,446,120	T497A	probably benign	Het
Ano5	T	C	7: 51,585,326	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,833,771	N722K	possibly damaging	Het
Atm	A	T	9: 53,495,955	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,433,987	T714A	possibly damaging	Het
BC051665	T	A	13: 60,784,500	M92L	probably benign	Het
Car3	G	A	3: 14,871,641	V255M	probably damaging	Het
Dctn1	A	G	6: 83,197,865	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,821,849	D420G	probably benign	Het
Gm5444	A	G	13: 4,771,684		noncoding transcript	Het
Hydin	A	T	8: 110,541,842	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,381,344	R119C	probably damaging	Het
Ighm	A	T	12: 113,421,602	L246Q	unknown	Het
Itpr3	A	G	17: 27,106,405	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,595,366	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,745,644		probably benign	Het
Myh11	T	C	16: 14,205,976	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,378,943	E21G	probably damaging	Het
Olfr1220	T	A	2: 89,097,910	I6F	probably benign	Het
Olfr273	T	A	4: 52,856,516		probably benign	Het
Plaa	A	G	4: 94,583,487	I375T	probably benign	Het
Pou2f1	C	T	1: 165,915,130	A65T	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,663,313	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,646,386	Y219*	probably null	Het
Slc35f3	G	T	8: 126,321,080	R53L	probably benign	Het
Slc44a5	T	C	3: 154,258,392	V465A	possibly damaging	Het
Slc9a5	A	G	8: 105,357,165	I446V	possibly damaging	Het
Slf1	A	T	13: 77,106,087	D204E	possibly damaging	Het
Sox5	T	A	6: 144,209,362	T3S	probably damaging	Het
Srr	G	A	11: 74,913,012	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,737,538	H150L	possibly damaging	Het
Tet2	A	G	3: 133,486,640	S678P	probably benign	Het
Tmem11	T	C	11: 60,864,858	K183E	probably damaging	Het
Upf1	T	C	8: 70,334,762		probably null	Het
Xpo6	A	T	7: 126,149,502		probably benign	Het
Zfp638	C	T	6: 83,977,065	S1384L	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Cnot11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Cnot11	APN	1	39544883	splice site	probably benign
R1087:Cnot11	UTSW	1	39540058	missense	probably benign	0.18
R1398:Cnot11	UTSW	1	39545180	missense	probably damaging	0.99
R3433:Cnot11	UTSW	1	39545187	splice site	probably null
R4134:Cnot11	UTSW	1	39537548	missense	probably benign	0.11
R4633:Cnot11	UTSW	1	39536218	missense	probably benign	0.00
R6841:Cnot11	UTSW	1	39540067	nonsense	probably null
R6931:Cnot11	UTSW	1	39539921	missense	probably damaging	0.99
R7290:Cnot11	UTSW	1	39539939	nonsense	probably null
R9251:Cnot11	UTSW	1	39542506	missense	probably damaging	0.98
R9508:Cnot11	UTSW	1	39542494	missense	probably damaging	0.99
RF007:Cnot11	UTSW	1	39542494	missense	probably damaging	0.99
Z1177:Cnot11	UTSW	1	39535848	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCATAGATCACAGAATCTCAAGCG -3'
(R):5'- AGGGGATCTCAAGAACCGAC -3'

Sequencing Primer
(F):5'- TCAATCAGCTGGAACTCAGTTAC -3'
(R):5'- CAAGAATGTCCCAATCACTGGC -3'

Posted On

2017-02-10