Mutagenetix > Incidental Mutation

Incidental Mutation 'R9331:Ccnt1'

706872

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: 0.911) question?

Stock #

R9331 (G1)

Quality Score

99.0078

Status

Not validated

Chromosome

Chromosomal Location

98436570-98468340 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98441097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 724 (K724*)

Ref Sequence

ENSEMBL: ENSMUSP00000012104 (fasta)

Gene Model

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

AlphaFold

Q9QWV9

Predicted Effect

probably null
Transcript: ENSMUST00000012104
AA Change: K724*

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: K724*

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
AA Change: K724*

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: K724*

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,616,324 (GRCm39)	E922G	probably benign	Het
Abca8a	A	G	11: 109,917,154 (GRCm39)	L1615P	probably damaging	Het
Actrt3	T	C	3: 30,652,050 (GRCm39)	D348G	probably damaging	Het
Adam3	A	G	8: 25,177,951 (GRCm39)	M654T	probably benign	Het
Adamts8	A	T	9: 30,862,770 (GRCm39)	H325L	probably damaging	Het
Agpat2	A	G	2: 26,487,318 (GRCm39)	Y72H	probably benign	Het
Ap3m1	A	G	14: 21,095,666 (GRCm39)	Y55H	possibly damaging	Het
Cacna1a	C	T	8: 85,142,446 (GRCm39)	A58V	probably damaging	Het
Cacna1c	C	T	6: 119,084,909 (GRCm39)	V10I		Het
Cd72	T	A	4: 43,454,320 (GRCm39)	T38S	possibly damaging	Het
Crispld1	T	A	1: 17,832,454 (GRCm39)	I480K	probably damaging	Het
Diaph3	G	T	14: 87,378,461 (GRCm39)	Y30*	probably null	Het
Ei24	A	G	9: 36,701,217 (GRCm39)	I34T	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,511 (GRCm39)	S144N	probably damaging	Het
Fgf21	G	T	7: 45,263,614 (GRCm39)	Q155K	probably benign	Het
Gdap1l1	A	T	2: 163,295,664 (GRCm39)	R310S	probably benign	Het
Gm44501	G	A	17: 40,889,620 (GRCm39)	V45I	probably benign	Het
Gne	A	G	4: 44,066,845 (GRCm39)	L56P	probably damaging	Het
Hcn4	T	C	9: 58,767,705 (GRCm39)	S1089P	probably damaging	Het
Hexim1	C	T	11: 103,007,974 (GRCm39)	T76M	probably damaging	Het
Hkdc1	A	T	10: 62,236,114 (GRCm39)	L476*	probably null	Het
Hoxd8	CGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGC	2: 74,535,942 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,765,866 (GRCm39)	I407L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,699,878 (GRCm39)	Y78C	possibly damaging	Het
Kif20a	T	A	18: 34,762,562 (GRCm39)	C478*	probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Ltbp2	C	T	12: 84,922,965 (GRCm39)	R34Q	probably benign	Het
Mccc1	A	G	3: 36,014,238 (GRCm39)	V693A	probably damaging	Het
Muc5b	C	A	7: 141,411,475 (GRCm39)	Q1474K	unknown	Het
Nos1	T	C	5: 118,038,589 (GRCm39)	V474A	possibly damaging	Het
Nprl2	G	A	9: 107,421,955 (GRCm39)	V244M	probably damaging	Het
Npy2r	A	G	3: 82,448,068 (GRCm39)	S236P	probably damaging	Het
Or8b9	G	A	9: 37,766,710 (GRCm39)	V199I	probably benign	Het
Or8c10	A	G	9: 38,279,003 (GRCm39)	S44G	probably benign	Het
P2rx7	T	C	5: 122,818,961 (GRCm39)	L461P	probably benign	Het
Pacc1	T	C	1: 191,077,318 (GRCm39)		probably null	Het
Pde12	T	C	14: 26,389,828 (GRCm39)	I294V	probably benign	Het
Plcl1	T	C	1: 55,736,030 (GRCm39)	L457P	possibly damaging	Het
Plekho2	C	A	9: 65,463,866 (GRCm39)	A328S	probably benign	Het
Polg	T	C	7: 79,108,148 (GRCm39)	K556E	probably damaging	Het
Prl7a2	A	G	13: 27,849,062 (GRCm39)	S76P	probably damaging	Het
Ptar1	T	A	19: 23,671,707 (GRCm39)	C37S	probably benign	Het
Pwwp2b	G	A	7: 138,835,357 (GRCm39)	G266D	probably damaging	Het
Pygm	T	C	19: 6,448,129 (GRCm39)	F812L	probably damaging	Het
Smarcc2	A	T	10: 128,323,310 (GRCm39)	T982S	unknown	Het
Spata31e2	T	C	1: 26,722,790 (GRCm39)	R797G	probably benign	Het
Syne1	C	G	10: 5,073,666 (GRCm39)	V1226L	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmub1	T	C	5: 24,650,985 (GRCm39)	T225A	probably damaging	Het
Trmo	A	C	4: 46,387,642 (GRCm39)	C59W	possibly damaging	Het
Ttc6	C	A	12: 57,720,509 (GRCm39)	A925D	probably damaging	Het
Tubb1	A	G	2: 174,297,472 (GRCm39)	E27G	probably damaging	Het
Unkl	G	A	17: 25,450,723 (GRCm39)	C503Y	probably damaging	Het
Usp40	A	G	1: 87,901,828 (GRCm39)	I785T	probably damaging	Het
Vmn2r32	G	A	7: 7,467,402 (GRCm39)	Q709*	probably null	Het
Xaf1	T	C	11: 72,197,470 (GRCm39)	S149P	probably damaging	Het
Ythdc2	T	A	18: 44,970,499 (GRCm39)	V271E	possibly damaging	Het
Zfp386	C	T	12: 116,011,433 (GRCm39)		probably benign	Het
Zfp456	T	A	13: 67,514,389 (GRCm39)	E439V	probably damaging	Het

Other mutations in Ccnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ccnt1	APN	15	98,462,990 (GRCm39)	missense	possibly damaging	0.75
IGL00900:Ccnt1	APN	15	98,452,514 (GRCm39)	missense	probably damaging	1.00
IGL01798:Ccnt1	APN	15	98,442,122 (GRCm39)	missense	probably benign	0.00
IGL02126:Ccnt1	APN	15	98,465,484 (GRCm39)	missense	probably damaging	1.00
IGL02341:Ccnt1	APN	15	98,444,664 (GRCm39)	missense	possibly damaging	0.92
Lifecycle	UTSW	15	98,463,005 (GRCm39)	nonsense	probably null
R0049:Ccnt1	UTSW	15	98,462,960 (GRCm39)	missense	probably benign	0.05
R0049:Ccnt1	UTSW	15	98,462,960 (GRCm39)	missense	probably benign	0.05
R1116:Ccnt1	UTSW	15	98,442,219 (GRCm39)	missense	probably damaging	1.00
R2063:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2065:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2066:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2068:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2180:Ccnt1	UTSW	15	98,441,481 (GRCm39)	missense	possibly damaging	0.74
R3917:Ccnt1	UTSW	15	98,441,940 (GRCm39)	missense	probably benign	0.00
R4805:Ccnt1	UTSW	15	98,442,189 (GRCm39)	missense	probably benign	0.00
R4830:Ccnt1	UTSW	15	98,441,332 (GRCm39)	missense	probably damaging	1.00
R4836:Ccnt1	UTSW	15	98,465,444 (GRCm39)	missense	probably damaging	0.96
R5320:Ccnt1	UTSW	15	98,442,124 (GRCm39)	missense	probably benign	0.35
R5740:Ccnt1	UTSW	15	98,442,381 (GRCm39)	missense	probably benign	0.01
R5870:Ccnt1	UTSW	15	98,441,394 (GRCm39)	nonsense	probably null
R6074:Ccnt1	UTSW	15	98,441,205 (GRCm39)	missense	probably damaging	1.00
R6413:Ccnt1	UTSW	15	98,441,850 (GRCm39)	missense	probably benign	0.01
R6610:Ccnt1	UTSW	15	98,462,982 (GRCm39)	missense	probably damaging	1.00
R7260:Ccnt1	UTSW	15	98,463,005 (GRCm39)	nonsense	probably null
R7752:Ccnt1	UTSW	15	98,441,797 (GRCm39)	missense	probably benign	0.00
R7901:Ccnt1	UTSW	15	98,441,797 (GRCm39)	missense	probably benign	0.00
R7988:Ccnt1	UTSW	15	98,463,024 (GRCm39)	splice site	probably null
R8699:Ccnt1	UTSW	15	98,462,995 (GRCm39)	missense	probably damaging	0.98
R8959:Ccnt1	UTSW	15	98,441,096 (GRCm39)	utr 3 prime	probably benign
R9143:Ccnt1	UTSW	15	98,441,688 (GRCm39)	missense	probably damaging	1.00
R9153:Ccnt1	UTSW	15	98,441,159 (GRCm39)	missense	probably benign	0.28
R9549:Ccnt1	UTSW	15	98,441,574 (GRCm39)	missense	probably damaging	0.99
R9684:Ccnt1	UTSW	15	98,446,566 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCAGATCGAATAACTGAGGCC -3'
(R):5'- ACACTGTGAATATGCTCCACTCC -3'

Sequencing Primer
(F):5'- GATCGAATAACTGAGGCCCTCCC -3'
(R):5'- GAATATGCTCCACTCCCTGCTTAG -3'

Posted On

2022-04-18