Mutagenetix > Incidental Mutations

Incidental Mutation 'R0049:Ccnt1'

15867

Institutional Source

Beutler Lab

Gene Symbol

Ccnt1

Ensembl Gene

ENSMUSG00000011960

Gene Name

cyclin T1

Synonyms

2810478G24Rik, CycT1

MMRRC Submission

038343-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98538689-98570923 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98565079 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 71 (M71V)

Ref Sequence

ENSEMBL: ENSMUSP00000126874 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000012104
AA Change: M71V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: M71V

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: ENSMUST00000130921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164565

Predicted Effect

probably benign
Transcript: ENSMUST00000168928
AA Change: M71V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960
AA Change: M71V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169707
AA Change: M71V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: M71V

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

Meta Mutation Damage Score

0.2191

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,638,308	H9L	possibly damaging	Het
Aars	T	A	8: 111,052,451	I739K	possibly damaging	Het
Acod1	T	A	14: 103,055,207	I389K	possibly damaging	Het
Akap1	C	A	11: 88,839,624		probably null	Het
Anxa7	T	C	14: 20,462,610	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,670,169	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,729,193		probably null	Het
Atp6v0a4	G	A	6: 38,082,081	R256C	probably damaging	Het
Camsap3	C	A	8: 3,598,772	S163R	probably benign	Het
Ccdc110	A	T	8: 45,942,626	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119		probably null	Het
Celsr2	T	A	3: 108,397,254	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,613,734	T498A	probably benign	Het
Clstn3	T	A	6: 124,459,853	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,051,277	V468A	probably benign	Het
Crmp1	T	G	5: 37,265,273	D141E	possibly damaging	Het
Cryz	C	A	3: 154,611,552	A136D	probably damaging	Het
Dcst2	T	C	3: 89,371,606	V550A	probably benign	Het
Dph6	A	G	2: 114,523,044	V221A	probably benign	Het
Ecm2	A	T	13: 49,524,446	K403*	probably null	Het
Eif3d	T	C	15: 77,959,724	N474S	probably benign	Het
F12	T	C	13: 55,426,317	D34G	probably benign	Het
Fam214b	A	T	4: 43,036,441	S97T	probably benign	Het
Fam228b	A	T	12: 4,748,117	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,375,663	D334E	possibly damaging	Het
Fras1	T	A	5: 96,776,622	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,593,847	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,269	D16E	probably benign	Het
Gm10648	T	C	7: 28,861,777		probably benign	Het
Gm6614	T	C	6: 141,990,421	T313A	probably benign	Het
Gorasp2	T	C	2: 70,690,723	S346P	possibly damaging	Het
Htt	A	C	5: 34,908,662	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,302,158	L8F	probably damaging	Het
Kif27	A	T	13: 58,303,564	D983E	probably damaging	Het
Kif3a	T	A	11: 53,590,733		probably benign	Het
Kif3c	A	C	12: 3,367,090	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,380,560		probably benign	Het
Maz	A	T	7: 127,024,586	D74E	probably damaging	Het
Med21	T	C	6: 146,650,234	S128P	probably damaging	Het
Mms19	A	C	19: 41,955,168	M374R	probably damaging	Het
Mrpl3	T	C	9: 105,055,673	V111A	probably benign	Het
Mtfr2	T	A	10: 20,348,412	Y31N	probably damaging	Het
Neb	A	C	2: 52,170,467	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,520,345	R137*	probably null	Het
Nr1i3	T	A	1: 171,214,413	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,251,304	V452A	probably damaging	Het
Olfr743	A	T	14: 50,533,694	K94M	probably damaging	Het
Pax3	A	G	1: 78,103,504	L415P	probably damaging	Het
Pcnt	G	T	10: 76,369,821		probably benign	Het
Peg3	G	T	7: 6,711,673	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,889,388	G120V	probably damaging	Het
Pomt1	T	A	2: 32,252,011	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,283,832	G532E	probably benign	Het
Pwp1	A	G	10: 85,885,616	T361A	possibly damaging	Het
Rab4a	A	T	8: 123,827,342	H5L	probably damaging	Het
Ramp1	T	C	1: 91,196,870	I51T	possibly damaging	Het
Raph1	G	T	1: 60,525,899	T143K	probably benign	Het
Rhpn1	A	G	15: 75,709,239	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,298,469	T283S	possibly damaging	Het
Ros1	T	A	10: 52,101,761	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,921,434	Q223R	probably null	Het
Rtp4	G	T	16: 23,612,929	M70I	probably benign	Het
Sag	C	A	1: 87,834,618	T335K	probably damaging	Het
Sgo1	C	T	17: 53,679,663	D167N	probably damaging	Het
St6gal1	G	T	16: 23,321,141	A21S	probably damaging	Het
Stard9	C	A	2: 120,699,819	L2186I	probably damaging	Het
Sun2	T	A	15: 79,727,609		probably benign	Het
Taf4	G	A	2: 179,924,091	T849M	probably damaging	Het
Taok2	G	A	7: 126,866,411	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582	I72V	probably damaging	Het
Trav1	T	A	14: 52,428,698	S52T	probably damaging	Het
Trim30a	C	T	7: 104,429,352		probably null	Het
Tro	T	C	X: 150,654,569	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,770,109	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,223,564	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,137,055	Q111*	probably null	Het
Vmn2r75	G	A	7: 86,148,101	Q835*	probably null	Het
Xcr1	T	A	9: 123,855,875	D274V	possibly damaging	Het
Ypel5	C	T	17: 72,846,337	T12I	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
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
R5870:Ccnt1	UTSW	15	98543513	nonsense	probably null
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

Posted On

2013-01-08