Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Ccnt1'

455156

Institutional Source

Beutler Lab

Gene Symbol

Ccnt1

Ensembl Gene

ENSMUSG00000011960

Gene Name

cyclin T1

Synonyms

2810478G24Rik, CycT1

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98538689-98570923 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 98543513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 625 (Q625*)

Ref Sequence

ENSEMBL: ENSMUSP00000126874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]

AlphaFold

Q9QWV9

Predicted Effect

probably null
Transcript: ENSMUST00000012104
AA Change: Q625*

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: Q625*

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
SCOP:d1jkw_2	152	257	1e-24	SMART
Blast:CYCLIN	155	243	2e-54	BLAST
low complexity region	308	326	N/A	INTRINSIC
coiled coil region	388	419	N/A	INTRINSIC
low complexity region	512	529	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC
low complexity region	706	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164294

Predicted Effect

probably benign
Transcript: ENSMUST00000168928

SMART Domains

Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
Blast:CYCLIN	155	182	3e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169674

Predicted Effect

probably null
Transcript: ENSMUST00000169707
AA Change: Q625*

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: Q625*

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
SCOP:d1jkw_2	152	257	1e-24	SMART
Blast:CYCLIN	155	243	2e-54	BLAST
low complexity region	308	326	N/A	INTRINSIC
coiled coil region	388	419	N/A	INTRINSIC
low complexity region	512	529	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC
low complexity region	706	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170452

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,418,368	V156A	probably damaging	Het
Ak6	C	A	13: 100,655,424	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,399,889	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,180,938	I874T	probably damaging	Het
Arid1a	T	C	4: 133,681,076	D2040G	unknown	Het
Atp1a3	T	G	7: 24,997,578	D220A	probably benign	Het
C2cd4c	A	T	10: 79,612,209	I368N	possibly damaging	Het
Cd177	T	A	7: 24,756,332	H255L	probably benign	Het
Cdipt	G	A	7: 126,978,922	V114M	probably benign	Het
Coro1b	T	A	19: 4,149,385	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,408,686	D158V	unknown	Het
Cts7	A	T	13: 61,355,731	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,195,709	L366*	probably null	Het
Dnah9	C	T	11: 66,085,210	A1338T	probably benign	Het
Dock7	T	C	4: 99,063,962	I424V	probably benign	Het
Dock8	G	T	19: 25,132,126	A891S	probably benign	Het
Elmod3	A	G	6: 72,594,738		probably null	Het
Eps15	G	A	4: 109,361,310	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744		probably null	Het
Fuz	A	G	7: 44,900,318	T407A	probably damaging	Het
Galr1	A	T	18: 82,406,072	F27I	probably benign	Het
Glt1d1	A	G	5: 127,677,280	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,690,521		probably benign	Het
Gm37610	A	G	6: 41,084,914		noncoding transcript	Het
Gm6658	G	T	8: 90,908,392		probably benign	Het
Gm9376	A	G	14: 118,267,377	T74A	possibly damaging	Het
Hadha	G	A	5: 30,144,286	S109F	possibly damaging	Het
Herc3	A	T	6: 58,916,450	Q899L	probably benign	Het
Ift172	C	T	5: 31,276,940	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,235,725	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,763,532	V10D	possibly damaging	Het
Med27	A	G	2: 29,389,811		probably null	Het
Med29	A	T	7: 28,392,497	V56E	probably damaging	Het
Mobp	A	G	9: 120,167,853	K17E	probably damaging	Het
Mrpl37	G	A	4: 107,066,722	T25I	probably benign	Het
Myh1	A	G	11: 67,201,979	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,472,629	I58F	possibly damaging	Het
Olfr589	A	G	7: 103,155,741	I2T	probably benign	Het
Olfr872	A	G	9: 20,260,578	D246G	probably benign	Het
Padi1	T	A	4: 140,826,581	D359V	probably benign	Het
Pcdh7	T	C	5: 57,720,411	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,570,361	K15N	probably damaging	Het
Phip	A	T	9: 82,908,677		probably benign	Het
Pot1a	G	A	6: 25,778,951	T48I	possibly damaging	Het
Ppic	T	C	18: 53,409,261	K125R	probably benign	Het
Ppm1j	T	C	3: 104,785,495	V440A	possibly damaging	Het
Prg4	T	A	1: 150,455,549	K458*	probably null	Het
Rd3	A	T	1: 191,985,300	M244L	probably benign	Het
Rflnb	A	G	11: 76,022,038	Y175H	probably benign	Het
Rnf157	T	A	11: 116,347,074	S574C	probably benign	Het
Sardh	A	G	2: 27,220,641		probably null	Het
Senp3	C	T	11: 69,678,222		probably null	Het
Siglec1	G	A	2: 131,072,847	R1450C	probably damaging	Het
Sim2	A	G	16: 94,123,334	H446R	probably damaging	Het
Spon1	T	C	7: 114,031,786	I444T	probably damaging	Het
Srebf1	T	A	11: 60,203,584	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,537,956	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,609,011	V163I	probably benign	Het
Surf1	G	T	2: 26,916,259		probably benign	Het
Synj2	A	G	17: 6,037,853	E1348G	probably benign	Het
Tc2n	A	T	12: 101,652,852	V349D	probably damaging	Het
Ten1	A	G	11: 116,214,925	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,194,281	D321G	probably damaging	Het
Ttll12	A	T	15: 83,577,036	M594K	probably damaging	Het
Ttn	T	A	2: 76,872,714		probably benign	Het
Usp28	C	T	9: 49,025,985	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,619,023	I822V	probably benign	Het
Wdr60	A	G	12: 116,256,245	S26P	possibly damaging	Het
Zc3hc1	A	T	6: 30,382,683	L88*	probably null	Het
Zfr	T	A	15: 12,160,615	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,171,671	L42R	probably benign	Het

Other mutations in Ccnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ccnt1	APN	15	98565109	missense	possibly damaging	0.75
IGL00900:Ccnt1	APN	15	98554633	missense	probably damaging	1.00
IGL01798:Ccnt1	APN	15	98544241	missense	probably benign	0.00
IGL02126:Ccnt1	APN	15	98567603	missense	probably damaging	1.00
IGL02341:Ccnt1	APN	15	98546783	missense	possibly damaging	0.92
Lifecycle	UTSW	15	98565124	nonsense	probably null
R0049:Ccnt1	UTSW	15	98565079	missense	probably benign	0.05
R0049:Ccnt1	UTSW	15	98565079	missense	probably benign	0.05
R1116:Ccnt1	UTSW	15	98544338	missense	probably damaging	1.00
R2063:Ccnt1	UTSW	15	98551942	missense	probably benign	0.25
R2065:Ccnt1	UTSW	15	98551942	missense	probably benign	0.25
R2066:Ccnt1	UTSW	15	98551942	missense	probably benign	0.25
R2068:Ccnt1	UTSW	15	98551942	missense	probably benign	0.25
R2180:Ccnt1	UTSW	15	98543600	missense	possibly damaging	0.74
R3917:Ccnt1	UTSW	15	98544059	missense	probably benign	0.00
R4805:Ccnt1	UTSW	15	98544308	missense	probably benign	0.00
R4830:Ccnt1	UTSW	15	98543451	missense	probably damaging	1.00
R4836:Ccnt1	UTSW	15	98567563	missense	probably damaging	0.96
R5320:Ccnt1	UTSW	15	98544243	missense	probably benign	0.35
R5740:Ccnt1	UTSW	15	98544500	missense	probably benign	0.01
R6074:Ccnt1	UTSW	15	98543324	missense	probably damaging	1.00
R6413:Ccnt1	UTSW	15	98543969	missense	probably benign	0.01
R6610:Ccnt1	UTSW	15	98565101	missense	probably damaging	1.00
R7260:Ccnt1	UTSW	15	98565124	nonsense	probably null
R7752:Ccnt1	UTSW	15	98543916	missense	probably benign	0.00
R7901:Ccnt1	UTSW	15	98543916	missense	probably benign	0.00
R7988:Ccnt1	UTSW	15	98565143	splice site	probably null
R8699:Ccnt1	UTSW	15	98565114	missense	probably damaging	0.98
R8959:Ccnt1	UTSW	15	98543215	utr 3 prime	probably benign
R9143:Ccnt1	UTSW	15	98543807	missense	probably damaging	1.00
R9153:Ccnt1	UTSW	15	98543278	missense	probably benign	0.28
R9331:Ccnt1	UTSW	15	98543216	nonsense	probably null
R9549:Ccnt1	UTSW	15	98543693	missense	probably damaging	0.99
R9684:Ccnt1	UTSW	15	98548685	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATTCAAATGCAGGGGCCTG -3'
(R):5'- GAGCAAACGCCCAAGTGATC -3'

Sequencing Primer
(F):5'- CCTGTGTGGGCTGAACC -3'
(R):5'- AAACCTACAGCTTGTCCAGTACTTTG -3'

Posted On

2017-02-10