Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Ccnt1'

656387

Institutional Source

Beutler Lab

Gene Symbol

Ccnt1

Ensembl Gene

ENSMUSG00000011960

Gene Name

cyclin T1

Synonyms

2810478G24Rik, CycT1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98538689-98570923 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98565143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126874 (fasta)

Gene Model

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

AlphaFold

Q9QWV9

Predicted Effect

probably null
Transcript: ENSMUST00000012104

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960

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

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

probably null
Transcript: ENSMUST00000169707

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	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
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
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'- ACATTTGTCTTCTTACTCGGAAAGC -3'
(R):5'- GGATCGTCTTTGCAGAAGGC -3'

Sequencing Primer
(F):5'- TCATAGTTCAATAACAACGACCAATC -3'
(R):5'- AAGCCTGAGGTCGTATGCAGC -3'

Posted On

2020-11-02