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: 0.911) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98436570-98468340 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 98441394 bp (GRCm39)

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: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	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
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
R9331:Ccnt1	UTSW	15	98,441,097 (GRCm39)	nonsense	probably null
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'- AATTCAAATGCAGGGGCCTG -3'
(R):5'- GAGCAAACGCCCAAGTGATC -3'

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

Posted On

2017-02-10